ATP6V0D1-DT[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 2394581	NM_001138.2(AGRP):c.391C>T (p.Arg131Cys)	AGRP, ATP6V0D1-DT (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357224	NM_001138.2(AGRP):c.377T>A (p.Met126Lys)	AGRP, ATP6V0D1-DT (M126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404398	NM_001138.2(AGRP):c.358C>T (p.Arg120Cys)	AGRP, ATP6V0D1-DT (R120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777021	NM_001138.2(AGRP):c.333C>G (p.Arg111=)	AGRP, ATP6V0D1-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2339750	NM_001138.2(AGRP):c.295G>A (p.Val99Met)	AGRP, ATP6V0D1-DT (V99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097179	NM_001138.2(AGRP):c.286G>A (p.Gly96Arg)	AGRP, ATP6V0D1-DT (G96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049092	NM_001138.2(AGRP):c.264A>G (p.Val88=)	AGRP, ATP6V0D1-DT	Single nucleotide variant (synonymous variant)	Obesity	GUncertain significance
Select item 7329	NM_001138.2(AGRP):c.199G>A (p.Ala67Thr)	AGRP, ATP6V0D1-DT (A67T)	Single nucleotide variant (missense variant)	Inherited obesity	GBenign
Select item 2324907	NM_001138.2(AGRP):c.180A>C (p.Glu60Asp)	AGRP, ATP6V0D1-DT (E60D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532887	NM_001138.2(AGRP):c.142C>T (p.Arg48Trp)	AGRP, ATP6V0D1-DT (R48W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280192	NM_001138.2(AGRP):c.123G>A (p.Glu41=)	AGRP, ATP6V0D1-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3276573	NM_001138.2(AGRP):c.113T>G (p.Leu38Arg)	AGRP, ATP6V0D1-DT (L38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476779	NM_001138.2(AGRP):c.69G>A (p.Met23Ile)	AGRP, ATP6V0D1-DT (M23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097174	NM_001138.2(AGRP):c.14C>T (p.Ala5Val)	AGRP, ATP6V0D1-DT (A5V)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 26