ClinVar for MedGen (Select 1637031) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431951	NM_005458.8(GABBR2):c.932T>C (p.Met311Thr)	GABBR2 (M311T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor language and loss of hand skills	GUncertain significance
Select item 1805927	NM_005458.8(GABBR2):c.1987T>G (p.Tyr663Asp)	GABBR2 (Y663D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor language and loss of hand skills	GUncertain significance
Select item 1709440	NM_005458.8(GABBR2):c.493G>T (p.Asp165Tyr)	GABBR2 (D165Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor language and loss of hand skills	GLikely pathogenic
Select item 1709159	NM_005458.8(GABBR2):c.107C>T (p.Ala36Val)	GABBR2 (A36V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor language and loss of hand skills	GUncertain significance
Select item 1691275	NM_005458.8(GABBR2):c.2084G>A (p.Ser695Asn)	GABBR2 (S695N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor language and loss of hand skills +1 more	GLikely pathogenic
Select item 1684757	NM_005458.8(GABBR2):c.33GCC[5] (p.Pro20del)	GABBR2 (P20del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with poor language and loss of hand skills +1 more	GUncertain significance
Select item 1679636	NM_005458.8(GABBR2):c.*1906T>C	GABBR2	Single nucleotide variant (3 prime UTR variant)	Neurodevelopmental disorder with poor language and loss of hand skills +1 more	GUncertain significance
Select item 1496079	NM_005458.8(GABBR2):c.121G>T (p.Gly41Cys)	GABBR2 (G41C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor language and loss of hand skills +3 more	GUncertain significance
Select item 1268189	NM_005458.8(GABBR2):c.2005-22C>T	GABBR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1167958	NM_005458.8(GABBR2):c.375T>G (p.Pro125=)	GABBR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1167956	NM_005458.8(GABBR2):c.2052C>T (p.Pro684=)	GABBR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1167955	NM_005458.8(GABBR2):c.2413-4G>C	GABBR2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1023217	NM_005458.8(GABBR2):c.1662+1G>A	GABBR2	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with poor language and loss of hand skills +3 more	GUncertain significance
Select item 1015213	NM_005458.8(GABBR2):c.131G>A (p.Arg44Gln)	GABBR2 (R44Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 985861	NM_005458.8(GABBR2):c.635G>A (p.Arg212Gln)	GABBR2, LOC126860700 (R212Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 964522	NM_005458.8(GABBR2):c.2412+3A>G	GABBR2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 59 +3 more	GConflicting classifications of pathogenicity
Select item 496592	NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr)	GABBR2 (A707T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GLikely pathogenic
Select item 446211	NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr)	GABBR2 (A567T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor language and loss of hand skills +5 more	GPathogenic