GABRR2[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 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
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	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 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 3024363	GRCh38/hg38 6q15(chr6:88638119-89726639)	LOC129389578, LOC129996811 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 153743	GRCh38/hg38 6q15(chr6:89007799-89705596)x3	ANKRD6, GABRR1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 740854	NM_002043.5(GABRR2):c.1386A>T (p.Ser462=)	GABRR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2489634	NM_002043.5(GABRR2):c.1319C>T (p.Ala440Val)	GABRR2 (A440V)	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 730202	NM_002043.5(GABRR2):c.1298G>A (p.Arg433His)	GABRR2 (R433H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1286404	NM_002043.5(GABRR2):c.1289C>T (p.Thr430Met)	GABRR2 (T430M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2408617	NM_002043.5(GABRR2):c.1108C>T (p.Leu370Phe)	GABRR2 (L370F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776595	NM_002043.5(GABRR2):c.1055A>G (p.Gln352Arg)	GABRR2 (Q352R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2609524	NM_002043.5(GABRR2):c.998T>G (p.Val333Gly)	GABRR2 (V333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720650	NM_002043.5(GABRR2):c.990C>T (p.Val330=)	GABRR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2248237	NM_002043.5(GABRR2):c.947C>T (p.Pro316Leu)	GABRR2 (P316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2270080	NM_002043.5(GABRR2):c.860G>A (p.Arg287His)	GABRR2 (R287H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 746780	NM_002043.5(GABRR2):c.816C>T (p.Ala272=)	GABRR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2279106	NM_002043.5(GABRR2):c.766A>T (p.Thr256Ser)	GABRR2 (T256S)	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 2312371	NM_002043.5(GABRR2):c.628T>A (p.Trp210Arg)	GABRR2 (W210R)	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 2689105	NM_002043.5(GABRR2):c.568C>T (p.Gln190Ter)	GABRR2 (Q190*)	Single nucleotide variant (nonsense)	not provided	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 2343807	NM_002043.5(GABRR2):c.383G>A (p.Arg128Gln)	GABRR2 (R128Q)	Single nucleotide variant (missense variant)	not specified	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 3097877	NM_002043.5(GABRR2):c.265G>A (p.Asp89Asn)	GABRR2, LOC129996820 (D89N)	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 3280427	NM_002043.5(GABRR2):c.233C>T (p.Pro78Leu)	GABRR2 (P78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280428	NM_002043.5(GABRR2):c.230T>C (p.Ile77Thr)	GABRR2 (I77T)	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 2255890	NM_002043.5(GABRR2):c.211G>T (p.Ala71Ser)	GABRR2 (A71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714316	NM_002043.5(GABRR2):c.186C>T (p.Asp62=)	GABRR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3280429	NM_002043.5(GABRR2):c.103C>T (p.Pro35Ser)	GABRR2 (P35S)	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 2311073	NM_002043.5(GABRR2):c.70A>G (p.Lys24Glu)	GABRR2 (K24E)	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 2351499	NM_002043.5(GABRR2):c.23T>C (p.Ile8Thr)	GABRR2 (I8T)	Single nucleotide variant (missense 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 2471759	NM_002043.5(GABRR2):c.-71T>A	GABRR2	Single nucleotide variant (5 prime UTR variant)	not specified	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 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)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +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 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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

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Items: 66