GAD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60252	GRCh38/hg38 2q31.1(chr2:170101430-171243609)x1	ERICH2, ERICH2-DT +27 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 152844	GRCh38/hg38 2q31.1(chr2:170800982-170918434)x3	GAD1, LOC122847314 +3 more	Copy number gain	See cases	GUncertain significance
Select item 332212	NM_000817.2(GAD1):c.-397T>G	GAD1, LOC129935083	Single nucleotide variant (genic upstream transcript variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 892920	NM_000817.2(GAD1):c.-395G>T	GAD1, LOC129935083	Single nucleotide variant (genic upstream transcript variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 892921	NM_000817.2(GAD1):c.-292C>T	GAD1	Single nucleotide variant (genic upstream transcript variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 332213	NM_000817.2(GAD1):c.-288T>C	GAD1	Single nucleotide variant (genic upstream transcript variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 893728	NM_000817.2(GAD1):c.-276C>T	GAD1	Single nucleotide variant (genic upstream transcript variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 332214	NM_000817.2(GAD1):c.-255G>A	GAD1	Single nucleotide variant (genic upstream transcript variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 332215	NM_000817.2(GAD1):c.-244G>A	GAD1	Single nucleotide variant (genic upstream transcript variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GBenign
Select item 893729	NM_000817.2(GAD1):c.-226T>C	GAD1, LOC132088794	Single nucleotide variant (genic upstream transcript variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 332216	NM_000817.3(GAD1):c.-176G>C	GAD1, LOC132088794	Single nucleotide variant (5 prime UTR variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 332217	NM_000817.3(GAD1):c.-170G>A	GAD1, LOC132088794	Single nucleotide variant (5 prime UTR variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 332219	NM_000817.3(GAD1):c.-161G>T	GAD1, LOC132088794	Single nucleotide variant (5 prime UTR variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 332218	NM_000817.3(GAD1):c.-161G>A	GAD1, LOC132088794	Single nucleotide variant (5 prime UTR variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 332220	NM_000817.3(GAD1):c.-158G>A	GAD1, LOC132088794	Single nucleotide variant (5 prime UTR variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GBenign
Select item 332221	NM_000817.3(GAD1):c.-147G>A	GAD1, LOC132088794	Single nucleotide variant (5 prime UTR variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GBenign
Select item 893994	NM_000817.3(GAD1):c.-91G>C	GAD1, LOC132088794	Single nucleotide variant (5 prime UTR variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1233523	NM_000817.3(GAD1):c.-63-343T>C	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 332222	NM_000817.3(GAD1):c.-53C>A	GAD1	Single nucleotide variant (5 prime UTR variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 332223	NM_000817.3(GAD1):c.-41_-40insCT	GAD1	Insertion (5 prime UTR variant)	Cerebral palsy spastic quadriplegic	GUncertain significance
Select item 893995	NM_000817.3(GAD1):c.-39A>C	GAD1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 332224	NM_000817.3(GAD1):c.-29A>G	GAD1	Single nucleotide variant (5 prime UTR variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 332225	NM_000817.3(GAD1):c.17C>T (p.Pro6Leu)	GAD1 (P6L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2818999	NM_000817.3(GAD1):c.18A>G (p.Pro6=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 648983	NM_000817.3(GAD1):c.34T>A (p.Ser12Thr)	GAD1 (S12T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 5060	NM_000817.3(GAD1):c.35C>G (p.Ser12Cys)	GAD1 (S12C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2826230	NM_000817.3(GAD1):c.38C>T (p.Ser13Leu)	GAD1 (S13L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 753837	NM_000817.3(GAD1):c.39G>T (p.Ser13=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2050550	NM_000817.3(GAD1):c.51G>A (p.Ala17=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1445585	NM_000817.3(GAD1):c.54C>A (p.Asp18Glu)	GAD1 (D18E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2651534	NM_000817.3(GAD1):c.59A>G (p.Asn20Ser)	GAD1 (N20S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2123370	NM_000817.3(GAD1):c.61A>G (p.Thr21Ala)	GAD1 (T21A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 560641	NM_000817.3(GAD1):c.80C>A (p.Thr27Lys)	GAD1 (T27K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GBenign/Likely benign
Select item 1232558	NM_000817.3(GAD1):c.82+198A>G	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233820	NM_000817.3(GAD1):c.83-218C>T	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2988059	NM_000817.3(GAD1):c.83-7del	GAD1	Deletion (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2976348	NM_000817.3(GAD1):c.83-5C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1327515	NM_000817.3(GAD1):c.87C>G (p.Tyr29Ter)	GAD1	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 89	GPathogenic
Select item 930848	NM_000817.3(GAD1):c.92C>T (p.Thr31Ile)	GAD1 (T31I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1976313	NM_000817.3(GAD1):c.103G>A (p.Val35Met)	GAD1 (V35M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 332226	NM_000817.3(GAD1):c.111T>C (p.His37=)	GAD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1990324	NM_000817.3(GAD1):c.114A>T (p.Gly38=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1623951	NM_000817.3(GAD1):c.145+9C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2732402	NM_000817.3(GAD1):c.145+15C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1615010	NM_000817.3(GAD1):c.146-19C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1367717	NM_000817.3(GAD1):c.146-16G>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1578977	NM_000817.3(GAD1):c.146-15C>A	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 894403	NM_000817.3(GAD1):c.147C>T (p.Gly49=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1943865	NM_000817.3(GAD1):c.167G>T (p.Ser56Ile)	GAD1 (S56I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1428005	NM_000817.3(GAD1):c.177G>C (p.Glu59Asp)	GAD1 (E59D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1706356	NM_000817.3(GAD1):c.184C>T (p.Arg62Cys)	GAD1 (R62C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1120819	NM_000817.3(GAD1):c.198C>T (p.Ala66=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1522846	NM_000817.3(GAD1):c.203A>G (p.Lys68Arg)	GAD1 (K68R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1585311	NM_000817.3(GAD1):c.213A>G (p.Gln71=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1392861	NM_000817.3(GAD1):c.236G>A (p.Cys79Tyr)	GAD1 (C79Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2231604	NM_000817.3(GAD1):c.238G>C (p.Glu80Gln)	GAD1 (E80Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026752	NM_000817.3(GAD1):c.243C>G (p.Asn81Lys)	GAD1 (N81K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429193	NM_000817.3(GAD1):c.249C>A (p.Asp83Glu)	GAD1 (D83E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GUncertain significance
Select item 1412048	NM_000817.3(GAD1):c.251G>A (p.Arg84Gln)	GAD1 (R84Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2651535	NM_000817.3(GAD1):c.260G>A (p.Arg87His)	GAD1 (R87H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894404	NM_000817.3(GAD1):c.264C>G (p.Phe88Leu)	GAD1 (F88L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2571101	NM_000817.3(GAD1):c.265C>G (p.Arg89Gly)	GAD1 (R89G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 332227	NM_000817.3(GAD1):c.265C>T (p.Arg89Trp)	GAD1 (R89W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 648089	NM_000817.3(GAD1):c.266G>A (p.Arg89Gln)	GAD1 (R89Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 332228	NM_000817.3(GAD1):c.268C>T (p.Arg90Cys)	GAD1 (R90C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 965587	NM_000817.3(GAD1):c.269G>A (p.Arg90His)	GAD1 (R90H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2284930	NM_000817.3(GAD1):c.304+3A>G	GAD1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1663893	NM_000817.3(GAD1):c.304+14C>G	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2852928	NM_000817.3(GAD1):c.304+18C>G	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2739557	NM_000817.3(GAD1):c.304+20C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1251721	NM_000817.3(GAD1):c.304+185T>G	GAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1602530	NM_000817.3(GAD1):c.305-10C>T	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1563164	NM_000817.3(GAD1):c.315G>T (p.Pro105=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 765517	NM_000817.3(GAD1):c.321G>A (p.Lys107=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1347173	NM_000817.3(GAD1):c.326G>C (p.Gly109Ala)	GAD1 (G109A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1496682	NM_000817.3(GAD1):c.331G>A (p.Glu111Lys)	GAD1 (E111K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2651536	NM_000817.3(GAD1):c.354G>A (p.Leu118=)	GAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3097894	NM_000817.3(GAD1):c.361G>T (p.Val121Leu)	GAD1 (V121L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 332229	NM_000817.3(GAD1):c.380A>T (p.Tyr127Phe)	GAD1 (Y127F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1144043	NM_000817.3(GAD1):c.381T>C (p.Tyr127=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1430282	NM_000817.3(GAD1):c.382G>A (p.Val128Ile)	GAD1 (V128I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 1484164	NM_000817.3(GAD1):c.385C>A (p.Arg129Ser)	GAD1 (R129S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2263016	NM_000817.3(GAD1):c.386G>A (p.Arg129His)	GAD1 (R129H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 332230	NM_000817.3(GAD1):c.399T>C (p.Asp133=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +2 more	GConflicting classifications of pathogenicity
Select item 2730151	NM_000817.3(GAD1):c.405C>T (p.Ser135=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2961335	NM_000817.3(GAD1):c.429C>T (p.His143=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1506964	NM_000817.3(GAD1):c.449G>T (p.Gly150Val)	GAD1 (G150V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2740902	NM_000817.3(GAD1):c.477T>C (p.Ser159=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1507693	NM_000817.3(GAD1):c.484C>G (p.Pro162Ala)	GAD1 (P162A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GUncertain significance
Select item 2059747	NM_000817.3(GAD1):c.486C>T (p.Pro162=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2148595	NM_000817.3(GAD1):c.493C>T (p.Leu165=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 2129735	NM_000817.3(GAD1):c.548-2A>C	GAD1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely pathogenic
Select item 1618071	NM_000817.3(GAD1):c.591T>C (p.Ile197=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign
Select item 1441787	NM_000817.3(GAD1):c.624G>A (p.Thr208=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely benign

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