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clinvar-variants-grch38-seqvars.jsonl
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clinvar-variants-grch38-seqvars.jsonl
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{"rcv": "RCV000000009", "vcv": "VCV000018396", "title": "NM_002036.4(ACKR1):c.265C>T (p.Arg89Cys) AND DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "outer_start": null, "inner_start": null, "start": 159205704, "stop": 159205704, "inner_stop": null, "outer_stop": null, "display_start": 159205704, "display_stop": 159205704, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 159205704, "reference_allele_vcf": "C", "alternate_allele_vcf": "T", "for_display_length": null}, "hgnc_ids": ["HGNC:4035"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000010", "vcv": "VCV000018397", "title": "NM_002036.4(ACKR1):c.286_299del (p.Trp96fs) AND DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE", "variant_type": "deletion", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "outer_start": null, "inner_start": null, "start": 159205719, "stop": 159205732, "inner_stop": null, "outer_stop": null, "display_start": 159205719, "display_stop": 159205732, "strand": null, "variant_length": 14, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 159205718, "reference_allele_vcf": "CCCTGGCTGGCCTGT", "alternate_allele_vcf": "C", "for_display_length": null}, "hgnc_ids": ["HGNC:4035"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000012", "vcv": "VCV000000002", "title": "NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer) AND Hereditary spastic paraplegia 48", "variant_type": "indel", "clinical_significance": "pathogenic", "review_status": "criteria provided, single submitter", "sequence_location": {"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "outer_start": null, "inner_start": null, "start": 4781213, "stop": 4781216, "inner_stop": null, "outer_stop": null, "display_start": 4781213, "display_stop": 4781216, "strand": null, "variant_length": 22, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 4781213, "reference_allele_vcf": "GGAT", "alternate_allele_vcf": "TGCTGTAAACTGTAACTGTAAA", "for_display_length": null}, "hgnc_ids": ["HGNC:22197"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000013", "vcv": "VCV000000003", "title": "NM_014855.3(AP5Z1):c.1413_1426del (p.Leu473fs) AND Hereditary spastic paraplegia 48", "variant_type": "deletion", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "outer_start": null, "inner_start": null, "start": 4787730, "stop": 4787743, "inner_stop": null, "outer_stop": null, "display_start": 4787730, "display_stop": 4787743, "strand": null, "variant_length": 14, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 4787729, "reference_allele_vcf": "GCTGCTGGACCTGCC", "alternate_allele_vcf": "G", "for_display_length": null}, "hgnc_ids": ["HGNC:22197"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000016", "vcv": "VCV000000006", "title": "NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser) AND Mitochondrial complex 1 deficiency, nuclear type 19", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh38", "chr": "11", "accession": "NC_000011.10", "outer_start": null, "inner_start": null, "start": 126277517, "stop": 126277517, "inner_stop": null, "outer_stop": null, "display_start": 126277517, "display_stop": 126277517, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 126277517, "reference_allele_vcf": "A", "alternate_allele_vcf": "G", "for_display_length": null}, "hgnc_ids": ["HGNC:26927"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000042", "vcv": "VCV000000025", "title": "NM_015600.4(ABHD12):c.-6898_191+7002delinsCC AND PHARC syndrome", "variant_type": "indel", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh38", "chr": "20", "accession": "NC_000020.11", "outer_start": null, "inner_start": null, "start": 25383511, "stop": 25397601, "inner_stop": null, "outer_stop": null, "display_start": 25383511, "display_stop": 25397601, "strand": null, "variant_length": 14091, "reference_allele": null, "alternate_allele": "GG", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": null, "reference_allele_vcf": null, "alternate_allele_vcf": null, "for_display_length": null}, "hgnc_ids": ["HGNC:15868"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000043", "vcv": "VCV000000026", "title": "NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter) AND PHARC syndrome", "variant_type": "duplication", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh38", "chr": "20", "accession": "NC_000020.11", "outer_start": null, "inner_start": null, "start": 25307980, "stop": 25307981, "inner_stop": null, "outer_stop": null, "display_start": 25307980, "display_stop": 25307981, "strand": null, "variant_length": 7, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 25307980, "reference_allele_vcf": "G", "alternate_allele_vcf": "GGCTCTTA", "for_display_length": null}, "hgnc_ids": ["HGNC:15868"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000049", "vcv": "VCV000000032", "title": "NM_138413.4(HOGA1):c.700+4G>T AND Primary hyperoxaluria type 3", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh38", "chr": "10", "accession": "NC_000010.11", "outer_start": null, "inner_start": null, "start": 97600167, "stop": 97600167, "inner_stop": null, "outer_stop": null, "display_start": 97600167, "display_stop": 97600167, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 97600167, "reference_allele_vcf": "G", "alternate_allele_vcf": "T", "for_display_length": null}, "hgnc_ids": ["HGNC:25155"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000057", "vcv": "VCV000000040", "title": "NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs) AND Microcephaly 2, primary, autosomal recessive, with or without cortical malformations", "variant_type": "deletion", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh38", "chr": "19", "accession": "NC_000019.10", "outer_start": null, "inner_start": null, "start": 36104569, "stop": 36104572, "inner_stop": null, "outer_stop": null, "display_start": 36104569, "display_stop": 36104572, "strand": null, "variant_length": 4, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 36104568, "reference_allele_vcf": "GTGCC", "alternate_allele_vcf": "G", "for_display_length": null}, "hgnc_ids": ["HGNC:24502"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000059", "vcv": "VCV000000042", "title": "NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser) AND Microcephaly 2, primary, autosomal recessive, with or without cortical malformations", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh38", "chr": "19", "accession": "NC_000019.10", "outer_start": null, "inner_start": null, "start": 36067415, "stop": 36067415, "inner_stop": null, "outer_stop": null, "display_start": 36067415, "display_stop": 36067415, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 36067415, "reference_allele_vcf": "G", "alternate_allele_vcf": "C", "for_display_length": null}, "hgnc_ids": ["HGNC:24502"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}