"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GAD1"[gene - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2651534	NM_000817.3(GAD1):c.59A>G (p.Asn20Ser)	GAD1 (N20S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 2571101	NM_000817.3(GAD1):c.265C>G (p.Arg89Gly)	GAD1 (R89G)	Single nucleotide variant (missense variant)	not provided	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 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 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 332231	NM_000817.3(GAD1):c.682A>C (p.Ile228Leu)	GAD1 (I228L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2651537	NM_000817.3(GAD1):c.750T>C (p.Pro250=)	GAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 332232	NM_000817.3(GAD1):c.807G>A (p.Pro269=)	GAD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2651538	NM_000817.3(GAD1):c.822G>A (p.Lys274=)	GAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 660060	NM_000817.3(GAD1):c.1002+4T>G	GAD1	Single nucleotide variant (intron variant)	GAD1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 332235	NM_000817.3(GAD1):c.1173C>T (p.Asn391=)	GAD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2060824	NM_000817.3(GAD1):c.1224C>T (p.Gly408=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GLikely benign
Select item 332236	NM_000817.3(GAD1):c.1251C>T (p.Leu417=)	GAD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332237	NM_000817.3(GAD1):c.1252G>T (p.Val418Phe)	GAD1 (V418F)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 332240	NM_000817.3(GAD1):c.1473T>C (p.Tyr491=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +2 more	GBenign/Likely benign
Select item 2651539	NM_000817.3(GAD1):c.1476C>G (p.Ala492=)	GAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 332242	NM_000817.3(GAD1):c.1612-3A>G	GAD1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +1 more	GLikely benign
Select item 2651540	NM_000817.3(GAD1):c.1686G>A (p.Lys562=)	GAD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1081605	NM_000817.3(GAD1):c.1773C>A (p.Gly591=)	GAD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 23