GAB2[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	CHORDC1, GDPD4 +474 more	Copy number loss	See cases	GPathogenic
Select item 713425	NM_080491.3(GAB2):c.2022C>T (p.Ala674=)	GAB2, USP35	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 787094	NM_080491.3(GAB2):c.1947G>A (p.Glu649=)	GAB2, USP35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2383545	NM_080491.3(GAB2):c.1883G>A (p.Arg628His)	GAB2, USP35 (R590H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261243	NM_080491.3(GAB2):c.1883G>C (p.Arg628Pro)	USP35, GAB2 (R628P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323734	NM_080491.3(GAB2):c.1706C>A (p.Thr569Asn)	GAB2, USP35 (T531N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2396292	NM_080491.3(GAB2):c.1583T>C (p.Leu528Pro)	GAB2, USP35 (L490P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510846	NM_080491.3(GAB2):c.1499G>A (p.Arg500Gln)	GAB2, USP35 (R500Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2530254	NM_080491.3(GAB2):c.1298T>C (p.Phe433Ser)	GAB2, USP35 (F433S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2314502	NM_080491.3(GAB2):c.1060C>T (p.Arg354Cys)	GAB2, USP35 (R316C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456192	NM_080491.3(GAB2):c.976A>T (p.Ile326Phe)	GAB2, USP35 (I288F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2258291	NM_080491.3(GAB2):c.941T>C (p.Met314Thr)	USP35, GAB2 (M314T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318395	NM_080491.3(GAB2):c.911G>C (p.Arg304Thr)	GAB2, USP35 (R266T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485484	NM_080491.3(GAB2):c.871G>A (p.Asp291Asn)	GAB2, USP35 (D253N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212487	NM_080491.3(GAB2):c.767G>A (p.Arg256Gln)	GAB2, USP35 (R256Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494657	NM_080491.3(GAB2):c.754C>T (p.Pro252Ser)	GAB2, USP35 (P214S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 2550484	NM_080491.3(GAB2):c.592T>A (p.Cys198Ser)	GAB2 (C198S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617270	NM_080491.3(GAB2):c.464A>G (p.Glu155Gly)	GAB2 (E117G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404438	NM_080491.3(GAB2):c.419C>T (p.Ser140Phe)	GAB2 (S102F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340446	NM_080491.3(GAB2):c.407A>T (p.His136Leu)	GAB2 (H136L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776895	NM_080491.3(GAB2):c.404G>T (p.Gly135Val)	GAB2 (G135V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 791316	NM_080491.3(GAB2):c.402C>T (p.Ala134=)	GAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2315292	NM_080491.3(GAB2):c.271A>G (p.Ser91Gly)	GAB2 (S53G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224170	NM_080491.3(GAB2):c.242A>G (p.Gln81Arg)	GAB2 (Q81R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392622	NM_080491.3(GAB2):c.175C>G (p.Arg59Gly)	GAB2 (R59G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600338	NM_080491.3(GAB2):c.133G>A (p.Val45Ile)	GAB2 (V7I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 1808749	GRCh37/hg19 11q14.1(chr11:77211136-78014355)x3	AAMDC, ALG8 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 41