GAB1[gene] and "single gene"[properties] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1267291	NM_002039.4(GAB1):c.-222C>T	GAB1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3052380	NM_002039.4(GAB1):c.51G>C (p.Pro17=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GBenign
Select item 2622505	NM_002039.4(GAB1):c.110G>A (p.Arg37His)	GAB1 (R37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288114	NM_002039.4(GAB1):c.175A>G (p.Ile59Val)	GAB1 (I59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545492	NM_002039.4(GAB1):c.347G>A (p.Gly116Glu)	GAB1 (G116E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 26	GPathogenic
Select item 1226118	NM_002039.4(GAB1):c.367+164dup	GAB1	Duplication (intron variant)	not provided	GBenign
Select item 3097744	NM_002039.4(GAB1):c.476C>A (p.Pro159His)	GAB1 (P159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529506	NM_002039.4(GAB1):c.497A>G (p.Asn166Ser)	GAB1 (N166S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097745	NM_002039.4(GAB1):c.502C>A (p.Pro168Thr)	GAB1 (P168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516854	NM_002039.4(GAB1):c.502C>T (p.Pro168Ser)	GAB1 (P168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557721	NM_002039.4(GAB1):c.581C>G (p.Pro194Arg)	GAB1 (P194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050643	NM_002039.4(GAB1):c.582C>T (p.Pro194=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GLikely benign
Select item 1278037	NM_002039.4(GAB1):c.1196-47G>A	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2614355	NM_002039.4(GAB1):c.1276C>A (p.His426Asn)	GAB1 (H426N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031712	NM_002039.4(GAB1):c.1392A>G (p.Thr464=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GLikely benign
Select item 2339411	NM_002039.4(GAB1):c.1451C>T (p.Ser484Leu)	GAB1 (S484L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066331	NM_002039.4(GAB1):c.1460_1462del (p.Met487_Gln488delinsLys)	GAB1	Deletion (inframe_indel)	Autosomal recessive nonsyndromic hearing loss 26	GUncertain significance
Select item 1263047	NM_002039.4(GAB1):c.1585+181C>T	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151721	GRCh38/hg38 4q31.21(chr4:143449949-143473442)x3	GAB1	Copy number gain	See cases	GLikely benign
Select item 1241571	NM_002039.4(GAB1):c.1586-1771_1586-1770del	GAB1	Deletion (intron variant)	not provided	GBenign
Select item 1239559	NM_002039.4(GAB1):c.1586-1770del	GAB1	Deletion (intron variant)	not provided	GBenign
Select item 3052468	NM_002039.4(GAB1):c.1586-1635C>T	GAB1	Single nucleotide variant (synonymous variant +1 more)	GAB1-related disorder	GBenign
Select item 1277018	NM_002039.4(GAB1):c.1586-139G>A	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177901	NM_002039.4(GAB1):c.1680-116A>G	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294745	NM_002039.4(GAB1):c.1680-54A>G	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2554604	NM_002039.4(GAB1):c.1775T>C (p.Met592Thr)	GAB1 (M592T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615681	NM_002039.4(GAB1):c.1800C>A (p.Asp600Glu)	GAB1 (D630E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466445	NM_002039.4(GAB1):c.1821C>A (p.Asn607Lys)	GAB1 (N607K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402109	NM_002039.4(GAB1):c.1829A>T (p.Asp610Val)	GAB1 (D610V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390119	NM_002039.4(GAB1):c.1848G>C (p.Met616Ile)	GAB1 (M616I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048227	NM_002039.4(GAB1):c.1890C>T (p.Leu630=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GBenign
Select item 3097743	NM_002039.4(GAB1):c.1921C>A (p.Arg641Ser)	GAB1 (R641S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045706	NM_002039.4(GAB1):c.2064G>A (p.Thr688=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GLikely benign

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Items: 33