Related gene-specific medical variations for Gene (Select 9846) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3097765	NM_080491.3(GAB2):c.875T>C (p.Val292Ala)	GAB2, USP35 (V254A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097764	NM_080491.3(GAB2):c.839G>T (p.Gly280Val)	GAB2, USP35 (G242V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097763	NM_080491.3(GAB2):c.701A>G (p.Asn234Ser)	GAB2, USP35 (N196S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097762	NM_080491.3(GAB2):c.676G>A (p.Ala226Thr)	GAB2, USP35 (A188T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097761	NM_080491.3(GAB2):c.663G>T (p.Met221Ile)	GAB2, USP35 (M221I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097759	NM_080491.3(GAB2):c.1903G>A (p.Val635Ile)	GAB2, USP35 (V597I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097758	NM_080491.3(GAB2):c.1801A>G (p.Asn601Asp)	GAB2, USP35 (N601D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097757	NM_080491.3(GAB2):c.1759A>G (p.Met587Val)	GAB2, USP35 (M587V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097755	NM_080491.3(GAB2):c.1666T>A (p.Phe556Ile)	GAB2, USP35 (F556I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097754	NM_080491.3(GAB2):c.1435A>G (p.Met479Val)	GAB2, LOC130006497 +1 more (M441V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097752	NM_080491.3(GAB2):c.1205G>A (p.Arg402Gln)	GAB2, USP35 (R364Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097751	NM_080491.3(GAB2):c.1183A>G (p.Met395Val)	GAB2, USP35 (M357V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097750	NM_080491.3(GAB2):c.1166G>A (p.Arg389His)	GAB2, USP35 (R351H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097749	NM_080491.3(GAB2):c.1123A>G (p.Ile375Val)	GAB2, USP35 (I337V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642200	NM_080491.3(GAB2):c.1066C>G (p.Pro356Ala)	GAB2, USP35 (P318A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2537721	NM_080491.3(GAB2):c.1349A>T (p.Asp450Val)	GAB2, LOC130006497 +1 more (D412V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530254	NM_080491.3(GAB2):c.1298T>C (p.Phe433Ser)	GAB2, USP35 (F433S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510846	NM_080491.3(GAB2):c.1499G>A (p.Arg500Gln)	GAB2, USP35 (R500Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494657	NM_080491.3(GAB2):c.754C>T (p.Pro252Ser)	GAB2, USP35 (P214S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485484	NM_080491.3(GAB2):c.871G>A (p.Asp291Asn)	GAB2, USP35 (D253N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456192	NM_080491.3(GAB2):c.976A>T (p.Ile326Phe)	GAB2, USP35 (I288F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396292	NM_080491.3(GAB2):c.1583T>C (p.Leu528Pro)	GAB2, USP35 (L490P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383545	NM_080491.3(GAB2):c.1883G>A (p.Arg628His)	GAB2, USP35 (R590H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323734	NM_080491.3(GAB2):c.1706C>A (p.Thr569Asn)	GAB2, USP35 (T531N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318395	NM_080491.3(GAB2):c.911G>C (p.Arg304Thr)	GAB2, USP35 (R266T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314502	NM_080491.3(GAB2):c.1060C>T (p.Arg354Cys)	GAB2, USP35 (R316C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261243	NM_080491.3(GAB2):c.1883G>C (p.Arg628Pro)	GAB2, USP35 (R628P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258291	NM_080491.3(GAB2):c.941T>C (p.Met314Thr)	GAB2, USP35 (M314T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253365	NM_080491.3(GAB2):c.1367A>G (p.Asn456Ser)	GAB2, LOC130006497 +1 more (N456S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212487	NM_080491.3(GAB2):c.767G>A (p.Arg256Gln)	GAB2, USP35 (R256Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787094	NM_080491.3(GAB2):c.1947G>A (p.Glu649=)	GAB2, USP35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722439	NM_080491.3(GAB2):c.1658+8C>T	GAB2, USP35	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 718663	NM_080491.3(GAB2):c.950C>T (p.Pro317Leu)	GAB2, USP35 (P279L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713425	NM_080491.3(GAB2):c.2022C>T (p.Ala674=)	GAB2, USP35	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign

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Links from Gene

Items: 34