ClinVar for Gene (Select 2569) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280426	NM_002042.5(GABRR1):c.1277A>C (p.Gln426Pro)	GABRR1 (Q426P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280425	NM_002042.5(GABRR1):c.36T>A (p.Phe12Leu)	GABRR1 (F12L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3280424	NM_002042.5(GABRR1):c.1348A>T (p.Ile450Phe)	GABRR1 (I363F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280423	NM_002042.5(GABRR1):c.1429A>G (p.Ile477Val)	GABRR1 (I390V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280421	NM_002042.5(GABRR1):c.481G>A (p.Val161Met)	GABRR1 (V144M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097876	NM_002042.5(GABRR1):c.812T>C (p.Leu271Pro)	GABRR1 (L254P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097875	NM_002042.5(GABRR1):c.724C>T (p.Arg242Trp)	GABRR1 (R242W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097874	NM_002042.5(GABRR1):c.697G>T (p.Gly233Cys)	GABRR1 (G233C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097873	NM_002042.5(GABRR1):c.589A>G (p.Met197Val)	GABRR1 (M110V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097872	NM_002042.5(GABRR1):c.451A>C (p.Lys151Gln)	GABRR1 (K134Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097871	NM_002042.5(GABRR1):c.1385T>C (p.Ile462Thr)	GABRR1 (I375T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097870	NM_002042.5(GABRR1):c.1093G>A (p.Val365Ile)	GABRR1 (V278I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097869	NM_002042.5(GABRR1):c.1063G>A (p.Val355Met)	GABRR1 (V355M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097868	NM_002042.5(GABRR1):c.1012G>A (p.Val338Ile)	GABRR1 (V251I +2 more)	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 2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	AKIRIN2, ANKRD6 +24 more	Copy number loss	not provided	GPathogenic
Select item 2619737	NM_002042.5(GABRR1):c.1267A>T (p.Met423Leu)	GABRR1 (M336L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615682	NM_002042.5(GABRR1):c.611G>A (p.Arg204Gln)	GABRR1 (R117Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611692	NM_002042.5(GABRR1):c.1109C>T (p.Thr370Ile)	GABRR1 (T353I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596674	NM_002042.5(GABRR1):c.1273G>A (p.Val425Met)	GABRR1 (V425M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540364	NM_002042.5(GABRR1):c.919C>T (p.Arg307Cys)	GABRR1 (R307C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537137	NM_002042.5(GABRR1):c.980T>C (p.Ile327Thr)	GABRR1 (I327T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484380	NM_002042.5(GABRR1):c.1202A>G (p.Tyr401Cys)	GABRR1 (Y314C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475185	NM_002042.5(GABRR1):c.986C>T (p.Thr329Met)	GABRR1 (T242M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399601	NM_002042.5(GABRR1):c.832C>T (p.Arg278Cys)	GABRR1 (R191C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369209	NM_002042.5(GABRR1):c.1009C>T (p.Arg337Cys)	GABRR1 (R250C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364298	NM_002042.5(GABRR1):c.725G>A (p.Arg242Gln)	GABRR1 (R225Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331149	NM_002042.5(GABRR1):c.1184C>T (p.Ala395Val)	GABRR1 (A308V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314802	NM_002042.5(GABRR1):c.248A>C (p.Asp83Ala)	GABRR1 (D83A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306577	NM_002042.5(GABRR1):c.487T>C (p.Ser163Pro)	GABRR1 (S163P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304960	NM_002042.5(GABRR1):c.165G>T (p.Lys55Asn)	GABRR1 (K55N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2261244	NM_002042.5(GABRR1):c.1052G>A (p.Ser351Asn)	GABRR1 (S264N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258748	NM_002042.5(GABRR1):c.254A>G (p.Asp85Gly)	GABRR1 (D68G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217560	NM_002042.5(GABRR1):c.494G>A (p.Arg165His)	GABRR1 (R148H +2 more)	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)	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 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 782004	NM_002042.5(GABRR1):c.525C>T (p.Asn175=)	GABRR1	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)	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 441948	GRCh37/hg19 6q15(chr6:89717153-90408813)x3	ANKRD6, GABRR1 +8 more	Copy number gain	See cases	GUncertain significance
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 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	LOC129996876, LOC129996877 +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	SMIM8, SNHG5 +247 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 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 54