GABRR1[gene] - ClinVar

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

Search results

Items: 54

	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)	ANKRD6, GABRR1 +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 782004	NM_002042.5(GABRR1):c.525C>T (p.Asn175=)	GABRR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 441948	GRCh37/hg19 6q15(chr6:89717153-90408813)x3	ANKRD6, GABRR1 +8 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54