GAD2[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 59666	GRCh38/hg38 10p12.1(chr10:25484473-26963308)x3	ABI1, ANKRD26 +38 more	Copy number gain	See cases	GPathogenic
Select item 2540114	NM_001134366.2(GAD2):c.70G>C (p.Gly24Arg)	GAD2 (G24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385672	NM_001134366.2(GAD2):c.121G>A (p.Gly41Arg)	GAD2 (G41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486403	NM_001134366.2(GAD2):c.157G>A (p.Glu53Lys)	GAD2 (E53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097902	NM_001134366.2(GAD2):c.173G>C (p.Ser58Thr)	GAD2 (S58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320254	NM_001134366.2(GAD2):c.178G>A (p.Gly60Arg)	GAD2 (G60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362850	NM_001134366.2(GAD2):c.188C>A (p.Pro63His)	GAD2 (P63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771432	NM_001134366.2(GAD2):c.225C>T (p.Cys75=)	GAD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2261246	NM_001134366.2(GAD2):c.264C>A (p.Asn88Lys)	GAD2 (N88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484751	NM_001134366.2(GAD2):c.278A>C (p.His93Pro)	GAD2 (H93P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594008	NM_001134366.2(GAD2):c.304G>A (p.Asp102Asn)	GAD2 (D102N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097903	NM_001134366.2(GAD2):c.372A>C (p.Lys124Asn)	GAD2 (K124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257103	NM_001134366.2(GAD2):c.379G>A (p.Asp127Asn)	GAD2 (D127N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782118	NM_001134366.2(GAD2):c.458C>A (p.Pro153Gln)	GAD2 (P153Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 718079	NM_001134366.2(GAD2):c.520+8C>T	GAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3280445	NM_001134366.2(GAD2):c.550A>G (p.Thr184Ala)	GAD2 (T184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097904	NM_001134366.2(GAD2):c.566T>C (p.Val189Ala)	GAD2 (V189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097905	NM_001134366.2(GAD2):c.590C>A (p.Thr197Lys)	GAD2 (T197K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230250	NM_001134366.2(GAD2):c.610A>G (p.Met204Val)	GAD2 (M204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771433	NM_001134366.2(GAD2):c.683T>C (p.Ile228Thr)	GAD2 (I228T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774469	NM_001134366.2(GAD2):c.695G>A (p.Gly232Glu)	GAD2 (G232E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713603	NM_001134366.2(GAD2):c.705C>T (p.Gly235=)	GAD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740078	NM_001134366.2(GAD2):c.789G>A (p.Lys263=)	GAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713281	NM_001134366.2(GAD2):c.805G>A (p.Ala269Thr)	GAD2 (A269T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2344359	NM_001134366.2(GAD2):c.814A>T (p.Arg272Trp)	GAD2 (R272W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519229	NM_001134366.2(GAD2):c.857A>G (p.Lys286Arg)	GAD2 (K286R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280439	NM_001134366.2(GAD2):c.881T>C (p.Ile294Thr)	GAD2 (I294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280444	NM_001134366.2(GAD2):c.953G>A (p.Arg318Lys)	GAD2 (R318K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788279	NM_001134366.2(GAD2):c.976-10G>A	GAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3097906	NM_001134366.2(GAD2):c.983T>C (p.Val328Ala)	GAD2 (V328A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280441	NM_001134366.2(GAD2):c.1037C>G (p.Pro346Arg)	GAD2 (P346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789610	NM_001134366.2(GAD2):c.1107G>A (p.Gly369=)	GAD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3097896	NM_001134366.2(GAD2):c.1113A>C (p.Leu371Phe)	GAD2 (L371F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280446	NM_001134366.2(GAD2):c.1172C>T (p.Thr391Met)	GAD2 (T391M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232365	NM_001134366.2(GAD2):c.1237G>A (p.Gly413Arg)	GAD2 (G413R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373677	NM_001134366.2(GAD2):c.1246C>G (p.Gln416Glu)	GAD2 (Q416E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097897	NM_001134366.2(GAD2):c.1348G>A (p.Val450Ile)	GAD2 (V450I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097898	NM_001134366.2(GAD2):c.1432G>A (p.Ala478Thr)	GAD2 (A478T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622210	NM_001134366.2(GAD2):c.1477A>G (p.Met493Val)	GAD2 (M493V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097900	NM_001134366.2(GAD2):c.1538T>G (p.Leu513Trp)	GAD2 (L513W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280442	NM_001134366.2(GAD2):c.1541G>A (p.Arg514His)	GAD2 (R514H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280447	NM_001134366.2(GAD2):c.1549G>A (p.Glu517Lys)	GAD2 (E517K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097901	NM_001134366.2(GAD2):c.1573C>T (p.Arg525Cys)	GAD2 (R525C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459350	NM_001134366.2(GAD2):c.1580C>T (p.Ser527Leu)	GAD2 (S527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267480	NM_001134366.2(GAD2):c.1694C>T (p.Ala565Val)	GAD2 (A565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347134	NM_001134366.2(GAD2):c.1724T>C (p.Ile575Thr)	GAD2 (I575T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261720	NM_001134366.2(GAD2):c.1738C>T (p.Arg580Cys)	GAD2 (R580C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280440	NM_001134366.2(GAD2):c.1747C>A (p.Gln583Lys)	GAD2 (Q583K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063151	GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1	ABI1, ACBD5 +20 more	Copy number loss	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 443842	GRCh37/hg19 10p12.1(chr10:24628319-26747630)x1	APBB1IP, ARHGAP21 +7 more	Copy number loss	See cases	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 61