"Ambry Genetics"[submitter] AND "GAD1"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1428005	NM_000817.3(GAD1):c.177G>C (p.Glu59Asp)	GAD1 (E59D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +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 2231604	NM_000817.3(GAD1):c.238G>C (p.Glu80Gln)	GAD1 (E80Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 965587	NM_000817.3(GAD1):c.269G>A (p.Arg90His)	GAD1 (R90H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +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 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 2263016	NM_000817.3(GAD1):c.386G>A (p.Arg129His)	GAD1 (R129H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287061	NM_000817.3(GAD1):c.646T>C (p.Tyr216His)	GAD1 (Y216H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287661	NM_000817.3(GAD1):c.661G>C (p.Val221Leu)	GAD1 (V221L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229890	NM_000817.3(GAD1):c.661G>A (p.Val221Met)	GAD1 (V221M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 332231	NM_000817.3(GAD1):c.682A>C (p.Ile228Leu)	GAD1 (I228L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2244143	NM_000817.3(GAD1):c.751+5dup	GAD1	Duplication (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3097895	NM_000817.3(GAD1):c.775A>G (p.Ser259Gly)	GAD1 (S259G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331980	NM_000817.3(GAD1):c.781A>G (p.Met261Val)	GAD1 (M261V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 660060	NM_000817.3(GAD1):c.1002+4T>G	GAD1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2312159	NM_000817.3(GAD1):c.1156C>T (p.His386Tyr)	GAD1 (H386Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097892	NM_000817.3(GAD1):c.1160G>A (p.Arg387His)	GAD1 (R387H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291474	NM_000817.3(GAD1):c.1168C>T (p.Leu390Phe)	GAD1 (L390F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 332237	NM_000817.3(GAD1):c.1252G>T (p.Val418Phe)	GAD1 (V418F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2265946	NM_000817.3(GAD1):c.1263+1G>A	GAD1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 3280438	NM_000817.3(GAD1):c.1271T>C (p.Leu424Pro)	GAD1 (L424P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 648176	NM_000817.3(GAD1):c.1611+5G>A	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +2 more	GConflicting classifications of pathogenicity
Select item 2739739	NM_000817.3(GAD1):c.1672C>G (p.Pro558Ala)	GAD1 (P558A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2543627	NM_000817.3(GAD1):c.1675C>A (p.Gln559Lys)	GAD1 (Q559K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468981	NM_000817.3(GAD1):c.1688C>T (p.Ala563Val)	GAD1 (A563V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 29