4808[geneid] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 1326288	NM_005599.3(NHLH2):c.235C>T (p.Arg79Cys)	NHLH2 (R79C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2534333	NM_005599.3(NHLH2):c.154A>G (p.Ser52Gly)	NHLH2 (S52G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534332	NM_005599.3(NHLH2):c.119C>A (p.Pro40Gln)	NHLH2 (P40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326269	NM_005599.3(NHLH2):c.91G>A (p.Val31Met)	NHLH2 (V31M)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 2456367	NM_005599.3(NHLH2):c.35A>G (p.Asp12Gly)	NHLH2 (D12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332371	NM_005599.3(NHLH2):c.31T>G (p.Ser11Ala)	NHLH2 (S11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326268	NM_005599.3(NHLH2):c.26C>T (p.Ala9Val)	NHLH2 (A9V)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 1326289	NM_005599.3(NHLH2):c.25G>T (p.Ala9Ser)	NHLH2 (A9S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 3247900	NC_000001.10:g.(?_116243862)_(116947066_?)dup	ATP1A1, CASQ2 +4 more	Duplication	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2423983	NC_000001.10:g.(?_116310909)_(116947066_?)dup	ATP1A1, CASQ2 +4 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 686539	GRCh37/hg19 1p13.1(chr1:116105961-116397171)x3	CASQ2, NHLH2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441881	GRCh37/hg19 1p13.2-13.1(chr1:116065879-116693221)x3	CASQ2, LINC01649 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 20