"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GABRB2"[ge - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 533532	NM_001371727.1(GABRB2):c.1530T>C (p.Tyr510=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability +1 more	GLikely benign
Select item 386175	NM_001371727.1(GABRB2):c.1383G>A (p.Ala461=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 391753	NM_001371727.1(GABRB2):c.1377T>C (p.His459=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 383240	NM_001371727.1(GABRB2):c.1349G>A (p.Ser450Asn)	GABRB2 (S450N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3026772	NM_001371727.1(GABRB2):c.1294C>T (p.Leu432=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 871622	NM_001371727.1(GABRB2):c.1197C>A (p.Asp399Glu)	GABRB2 (D399E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624117	NM_001371727.1(GABRB2):c.1192-6T>G	GABRB2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 464936	NM_001371727.1(GABRB2):c.1159C>T (p.Arg387Trp)	GABRB2 (R387W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 871623	NM_001371727.1(GABRB2):c.1105G>A (p.Gly369Arg)	GABRB2 (G369R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1644887	NM_001371727.1(GABRB2):c.1056G>A (p.Lys352=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2656019	NM_001371727.1(GABRB2):c.926T>C (p.Leu309Pro)	GABRB2 (L309P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421234	NM_001371727.1(GABRB2):c.902A>G (p.Tyr301Cys)	GABRB2 (Y301C)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 383407	NM_001371727.1(GABRB2):c.747A>T (p.Thr249=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2571237	NM_001371727.1(GABRB2):c.746C>G (p.Thr249Arg)	GABRB2 (T249R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 809831	NM_001371727.1(GABRB2):c.720A>G (p.Arg240=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 384749	NM_001371727.1(GABRB2):c.357T>C (p.Asp119=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 809832	NM_001371727.1(GABRB2):c.258C>T (p.Tyr86=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809833	NM_001371727.1(GABRB2):c.177C>T (p.Pro59=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	ADAM19, ADRA1B +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign

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Items: 20