H1-10[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	ABTB1, ACAD11 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 3103472	NM_006026.4(H1-10):c.572C>T (p.Ala191Val)	H1-10 (A191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103470	NM_006026.4(H1-10):c.461C>G (p.Ser154Cys)	H1-10 (S154C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476914	NM_006026.4(H1-10):c.455C>T (p.Ala152Val)	H1-10 (A152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103469	NM_006026.4(H1-10):c.445C>T (p.Pro149Ser)	H1-10 (P149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103468	NM_006026.4(H1-10):c.418A>C (p.Thr140Pro)	H1-10 (T140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103467	NM_006026.4(H1-10):c.406G>C (p.Ala136Pro)	H1-10, LOC129937545 (A136P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522581	NM_006026.4(H1-10):c.406G>A (p.Ala136Thr)	H1-10, LOC129937545 (A136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103466	NM_006026.4(H1-10):c.403A>G (p.Thr135Ala)	H1-10, LOC129937545 (T135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103465	NM_006026.4(H1-10):c.344A>G (p.Lys115Arg)	H1-10, LOC129937545 (K115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615508	NM_006026.4(H1-10):c.221C>G (p.Ala74Gly)	H1-10 (A74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103464	NM_006026.4(H1-10):c.172A>G (p.Arg58Gly)	H1-10 (R58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103462	NM_006026.4(H1-10):c.126G>C (p.Lys42Asn)	H1-10 (K42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103461	NM_006026.4(H1-10):c.107G>A (p.Arg36Lys)	H1-10 (R36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520365	NM_006026.4(H1-10):c.97T>C (p.Ser33Pro)	H1-10 (S33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103471	NM_006026.4(H1-10):c.49A>C (p.Met17Leu)	H1-10 (M17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612237	NM_006026.4(H1-10):c.23C>T (p.Ala8Val)	H1-10 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103463	NM_006026.4(H1-10):c.13C>T (p.Leu5Phe)	H1-10 (L5F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ISY1-RAB43, ITGB5 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 830616	NC_000003.12:g.(?_129170453)_(129551340_?)dup	CNBP, COPG1 +7 more	Duplication	not provided	GUncertain significance
Select item 562815	GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1	ALG1L2, CFAP92 +17 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

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Items: 30