ClinVar for Gene (Select 181) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
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 3097174	NM_001138.2(AGRP):c.14C>T (p.Ala5Val)	AGRP, ATP6V0D1-DT (A5V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	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 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 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	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 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 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 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 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
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 1049092	NM_001138.2(AGRP):c.264A>G (p.Val88=)	AGRP, ATP6V0D1-DT	Single nucleotide variant (synonymous variant)	Obesity	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
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 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
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 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 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 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 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 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 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 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	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 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 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 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 7329	NM_001138.2(AGRP):c.199G>A (p.Ala67Thr)	AGRP, ATP6V0D1-DT (A67T)	Single nucleotide variant (missense variant)	Inherited obesity	GBenign

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Links from Gene

Items: 44