ClinVar for Gene (Select 2570) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3097880	NM_002043.5(GABRR2):c.914C>T (p.Thr305Ile)	GABRR2 (T305I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097879	NM_002043.5(GABRR2):c.470T>C (p.Met157Thr)	GABRR2 (M157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097878	NM_002043.5(GABRR2):c.406C>G (p.Pro136Ala)	GABRR2 (P136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097877	NM_002043.5(GABRR2):c.265G>A (p.Asp89Asn)	GABRR2, LOC129996820 (D89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024363	GRCh38/hg38 6q15(chr6:88638119-89726639)	LOC129389578, LOC129996811 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2689105	NM_002043.5(GABRR2):c.568C>T (p.Gln190Ter)	GABRR2 (Q190*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2689104	NM_002043.5(GABRR2):c.322T>C (p.Trp108Arg)	GABRR2 (W108R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	AKIRIN2, ANKRD6 +24 more	Copy number loss	not provided	GPathogenic
Select item 2609524	NM_002043.5(GABRR2):c.998T>G (p.Val333Gly)	GABRR2 (V333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608102	NM_002043.5(GABRR2):c.223C>G (p.Pro75Ala)	GABRR2 (P75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607768	NM_002043.5(GABRR2):c.859C>T (p.Arg287Cys)	GABRR2 (R287C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561431	NM_002043.5(GABRR2):c.152G>A (p.Arg51Gln)	GABRR2 (R51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551265	NM_002043.5(GABRR2):c.37T>C (p.Cys13Arg)	GABRR2 (C13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547545	NM_002043.5(GABRR2):c.1253A>G (p.Asn418Ser)	GABRR2 (N418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489634	NM_002043.5(GABRR2):c.1319C>T (p.Ala440Val)	GABRR2 (A440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471759	NM_002043.5(GABRR2):c.-71T>A	GABRR2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2462607	NM_002043.5(GABRR2):c.-59G>A	GABRR2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2462047	NM_002043.5(GABRR2):c.952G>A (p.Val318Ile)	GABRR2 (V318I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412072	NM_002043.5(GABRR2):c.80G>A (p.Arg27Gln)	GABRR2 (R27Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408617	NM_002043.5(GABRR2):c.1108C>T (p.Leu370Phe)	GABRR2 (L370F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356381	NM_002043.5(GABRR2):c.757A>G (p.Ile253Val)	GABRR2 (I253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351499	NM_002043.5(GABRR2):c.23T>C (p.Ile8Thr)	GABRR2 (I8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343807	NM_002043.5(GABRR2):c.383G>A (p.Arg128Gln)	GABRR2 (R128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312371	NM_002043.5(GABRR2):c.628T>A (p.Trp210Arg)	GABRR2 (W210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311073	NM_002043.5(GABRR2):c.70A>G (p.Lys24Glu)	GABRR2 (K24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303929	NM_002043.5(GABRR2):c.599C>T (p.Ala200Val)	GABRR2 (A200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279106	NM_002043.5(GABRR2):c.766A>T (p.Thr256Ser)	GABRR2 (T256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270080	NM_002043.5(GABRR2):c.860G>A (p.Arg287His)	GABRR2 (R287H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255890	NM_002043.5(GABRR2):c.211G>T (p.Ala71Ser)	GABRR2 (A71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255851	NM_002043.5(GABRR2):c.1376T>C (p.Ile459Thr)	GABRR2 (I459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255845	NM_002043.5(GABRR2):c.1300A>G (p.Ile434Val)	GABRR2 (I434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248237	NM_002043.5(GABRR2):c.947C>T (p.Pro316Leu)	GABRR2 (P316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246854	NM_002043.5(GABRR2):c.263T>C (p.Leu88Pro)	GABRR2, LOC129996820 (L88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228592	NM_002043.5(GABRR2):c.767C>T (p.Thr256Met)	GABRR2 (T256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527264	GRCh37/hg19 6q15(chr6:89720586-90415315)	ANKRD6, GABRR1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1340233	GRCh37/hg19 6q15-16.1(chr6:90008961-93761490)x1	ANKRD6, BACH2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 1286404	NM_002043.5(GABRR2):c.1289C>T (p.Thr430Met)	GABRR2 (T430M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 776595	NM_002043.5(GABRR2):c.1055A>G (p.Gln352Arg)	GABRR2 (Q352R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 746780	NM_002043.5(GABRR2):c.816C>T (p.Ala272=)	GABRR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740854	NM_002043.5(GABRR2):c.1386A>T (p.Ser462=)	GABRR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730202	NM_002043.5(GABRR2):c.1298G>A (p.Arg433His)	GABRR2 (R433H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 720650	NM_002043.5(GABRR2):c.990C>T (p.Val330=)	GABRR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714316	NM_002043.5(GABRR2):c.186C>T (p.Asp62=)	GABRR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689259	GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3	ANKRD6, BACH2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688276	GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1	AKIRIN2, ANKRD6 +26 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442688	GRCh37/hg19 6q15-16.1(chr6:89941373-95634177)x3	ANKRD6, BACH2 +9 more	Copy number gain	See cases	GLikely benign
Select item 441948	GRCh37/hg19 6q15(chr6:89717153-90408813)x3	ANKRD6, GABRR1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 375645	NM_002043.5(GABRR2):c.1003G>A (p.Val335Met)	GABRR2 (V335M)	Single nucleotide variant (missense variant)	Progressive sensorineural hearing impairment	GUncertain significance
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	LOC129996748, LOC129996749 +299 more	Copy number loss	See cases	GPathogenic
Select item 153743	GRCh38/hg38 6q15(chr6:89007799-89705596)x3	ANKRD6, GABRR1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	LOC121740658, LOC123775380 +247 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	RARS2, RNGTT +153 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 63