ClinVar for Gene (Select 222487) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271784	NM_170776.5(ADGRG3):c.961C>G (p.Leu321Val)	ADGRG3 (L321V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271774	NM_170776.5(ADGRG3):c.1268G>A (p.Arg423His)	ADGRG3 (R303H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271768	NM_170776.5(ADGRG3):c.902A>G (p.Lys301Arg)	ADGRG3 (K181R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271760	NM_170776.5(ADGRG3):c.1210G>A (p.Gly404Ser)	ADGRG3 (G404S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271749	NM_170776.5(ADGRG3):c.1267C>T (p.Arg423Cys)	ADGRG3 (R303C +1 more)	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 3086181	NM_170776.5(ADGRG3):c.670A>C (p.Thr224Pro)	ADGRG3 (T224P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086178	NM_170776.5(ADGRG3):c.526G>A (p.Val176Met)	ADGRG3 (V176M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086155	NM_170776.5(ADGRG3):c.290A>G (p.Gln97Arg)	ADGRG3 (Q97R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086144	NM_170776.5(ADGRG3):c.161G>T (p.Cys54Phe)	ADGRG3 (C54F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086117	NM_170776.5(ADGRG3):c.1361T>C (p.Val454Ala)	ADGRG3 (V334A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086104	NM_170776.5(ADGRG3):c.112A>T (p.Met38Leu)	ADGRG3 (M38L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2646561	NM_170776.5(ADGRG3):c.1635C>T (p.Ser545=)	ADGRG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617586	NM_170776.5(ADGRG3):c.1507G>A (p.Val503Ile)	ADGRG3 (V503I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595581	NM_170776.5(ADGRG3):c.1406G>A (p.Arg469Gln)	ADGRG3 (R349Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591729	NM_170776.5(ADGRG3):c.1303G>A (p.Val435Ile)	ADGRG3 (V315I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568524	NM_170776.5(ADGRG3):c.554G>A (p.Ser185Asn)	ADGRG3 (S65N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557751	NM_170776.5(ADGRG3):c.154A>G (p.Thr52Ala)	ADGRG3 (T52A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2527040	NM_170776.5(ADGRG3):c.523G>A (p.Gly175Ser)	ADGRG3 (G55S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477100	NM_170776.5(ADGRG3):c.506G>T (p.Gly169Val)	ADGRG3 (G169V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473957	NM_170776.5(ADGRG3):c.178G>A (p.Asp60Asn)	ADGRG3 (D60N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2463090	NM_170776.5(ADGRG3):c.704C>A (p.Thr235Lys)	ADGRG3 (T235K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460611	NM_170776.5(ADGRG3):c.1636G>A (p.Ala546Thr)	ADGRG3 (A426T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459823	NM_170776.5(ADGRG3):c.370G>A (p.Glu124Lys)	ADGRG3 (E124K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456482	NM_170776.5(ADGRG3):c.724A>T (p.Thr242Ser)	ADGRG3 (T122S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	NLRC5, PLLP +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 2388257	NM_170776.5(ADGRG3):c.539G>A (p.Arg180His)	ADGRG3 (R60H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383968	NM_170776.5(ADGRG3):c.1022G>C (p.Arg341Pro)	ADGRG3 (R221P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380433	NM_170776.5(ADGRG3):c.118G>A (p.Asp40Asn)	ADGRG3 (D40N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2378836	NM_170776.5(ADGRG3):c.163A>G (p.Arg55Gly)	ADGRG3 (R55G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2368533	NM_170776.5(ADGRG3):c.760C>A (p.Leu254Met)	ADGRG3 (L134M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365159	NM_170776.5(ADGRG3):c.1448C>T (p.Ser483Leu)	ADGRG3 (S483L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341757	NM_170776.5(ADGRG3):c.446G>A (p.Arg149His)	ADGRG3 (R29H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339793	NM_170776.5(ADGRG3):c.138C>G (p.Asp46Glu)	ADGRG3 (D46E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2338405	NM_170776.5(ADGRG3):c.424C>T (p.Pro142Ser)	ADGRG3 (P22S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330409	NM_170776.5(ADGRG3):c.137A>G (p.Asp46Gly)	ADGRG3 (D46G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2330408	NM_170776.5(ADGRG3):c.1153G>A (p.Val385Met)	ADGRG3 (V265M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311372	NM_170776.5(ADGRG3):c.832G>A (p.Val278Ile)	ADGRG3 (V158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294924	NM_170776.5(ADGRG3):c.1021C>T (p.Arg341Trp)	ADGRG3 (R341W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291628	NM_170776.5(ADGRG3):c.1312T>C (p.Tyr438His)	ADGRG3 (Y318H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286324	NM_170776.5(ADGRG3):c.350C>T (p.Pro117Leu)	ADGRG3 (P117L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2281031	NM_170776.5(ADGRG3):c.500G>A (p.Arg167Gln)	ADGRG3 (R167Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257314	NM_170776.5(ADGRG3):c.406A>T (p.Ser136Cys)	ADGRG3 (S16C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240067	NM_170776.5(ADGRG3):c.839T>C (p.Met280Thr)	ADGRG3 (M160T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238303	NM_170776.5(ADGRG3):c.992C>T (p.Ser331Leu)	ADGRG3 (S331L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227659	NM_170776.5(ADGRG3):c.314A>G (p.Glu105Gly)	ADGRG3 (E105G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219178	NM_170776.5(ADGRG3):c.757G>A (p.Ala253Thr)	ADGRG3 (A133T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207146	NM_170776.5(ADGRG3):c.1582A>G (p.Ser528Gly)	ADGRG3 (S528G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205966	NM_170776.5(ADGRG3):c.50C>T (p.Pro17Leu)	ADGRG3 (P17L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
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 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 980679	GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1	CCL17, ADGRG1 +28 more	Copy number loss	not provided	GUncertain significance
Select item 808175	GRCh37/hg19 16q21(chr16:57499814-58032169)x3	ADGRG1, ADGRG3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564334	GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1	ADGRG1, ADGRG3 +35 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 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
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 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	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

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Links from Gene

Items: 74