Related gene-specific medical variations for Gene (Select 2571) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065784	NM_000817.3(GAD1):c.1040C>T (p.Thr347Met)	GAD1 (T347M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 89	GUncertain significance
Select item 3064894	NM_000817.3(GAD1):c.703_706del (p.Arg234_Glu235insTer)	GAD1	Microsatellite (nonsense)	Developmental and epileptic encephalopathy 89	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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