ABLIM2[gene] and "single gene"[properties] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2555040	NM_001130083.2(ABLIM2):c.1913T>C (p.Leu638Pro)	ABLIM2 (L339P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618885	NM_001130083.2(ABLIM2):c.1804G>A (p.Val602Met)	ABLIM2 (V303M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401034	NM_001130083.2(ABLIM2):c.1787T>C (p.Val596Ala)	ABLIM2 (V482A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623406	NM_001130083.2(ABLIM2):c.1784G>A (p.Arg595His)	ABLIM2 (R561H +6 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 2361162	NM_001130083.2(ABLIM2):c.1768G>A (p.Val590Ile)	ABLIM2 (V291I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568361	NM_001130083.2(ABLIM2):c.1710C>A (p.Asp570Glu)	ABLIM2 (D271E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132109	NM_001130083.2(ABLIM2):c.1703G>A (p.Gly568Glu)	ABLIM2 (G269E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132106	NM_001130083.2(ABLIM2):c.1694C>A (p.Ala565Asp)	ABLIM2 (A479D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205593	NM_001130083.2(ABLIM2):c.1688A>G (p.Asn563Ser)	ABLIM2 (N563S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223842	NM_001130083.2(ABLIM2):c.1679G>A (p.Arg560Gln)	ABLIM2 (R526Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132103	NM_001130083.2(ABLIM2):c.1581C>A (p.Asp527Glu)	ABLIM2 (D441E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508841	NM_001130083.2(ABLIM2):c.1516A>G (p.Thr506Ala)	ABLIM2 (T207A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310119	NM_001130083.2(ABLIM2):c.1446G>T (p.Glu482Asp)	ABLIM2 (E183D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261363	NM_001130083.2(ABLIM2):c.1426G>T (p.Ala476Ser)	ABLIM2 (A402S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241064	NM_001130083.2(ABLIM2):c.1366C>G (p.Pro456Ala)	ABLIM2 (P423A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132091	NM_001130083.2(ABLIM2):c.1363G>T (p.Val455Phe)	ABLIM2 (V422F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354926	NM_001130083.2(ABLIM2):c.1363G>A (p.Val455Ile)	ABLIM2 (V422I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132087	NM_001130083.2(ABLIM2):c.1341G>C (p.Gln447His)	ABLIM2 (Q414H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513627	NM_001130083.2(ABLIM2):c.1322C>T (p.Pro441Leu)	ABLIM2 (P441L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132081	NM_001130083.2(ABLIM2):c.1303G>A (p.Val435Met)	ABLIM2 (V402M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295051	NM_001130083.2(ABLIM2):c.1271G>A (p.Ser424Asn)	ABLIM2 (S424N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606122	NM_001130083.2(ABLIM2):c.1181G>A (p.Ser394Asn)	ABLIM2 (S394N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520481	NM_001130083.2(ABLIM2):c.1124G>A (p.Arg375His)	ABLIM2 (R386H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601094	NM_001130083.2(ABLIM2):c.1064G>A (p.Arg355Gln)	ABLIM2 (R355Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398493	NM_001130083.2(ABLIM2):c.1027G>T (p.Asp343Tyr)	ABLIM2 (D100Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132194	NM_001130083.2(ABLIM2):c.979C>T (p.Arg327Cys)	ABLIM2 (R327C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511158	NM_001130083.2(ABLIM2):c.884C>T (p.Pro295Leu)	ABLIM2 (P295L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302069	NM_001130083.2(ABLIM2):c.863C>T (p.Ala288Val)	ABLIM2 (A288V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132187	NM_001130083.2(ABLIM2):c.774C>G (p.Ile258Met)	ABLIM2 (I15M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326052	NM_001130083.2(ABLIM2):c.763+5A>G	ABLIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326083	NM_001130083.2(ABLIM2):c.763+4C>T	ABLIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2280895	NM_001130083.2(ABLIM2):c.732G>A (p.Met244Ile)	ABLIM2 (M244I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391699	NM_001130083.2(ABLIM2):c.667G>A (p.Val223Met)	ABLIM2 (V223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654642	NM_001130083.2(ABLIM2):c.645T>C (p.Cys215=)	ABLIM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3132178	NM_001130083.2(ABLIM2):c.632G>A (p.Arg211His)	ABLIM2 (R211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132177	NM_001130083.2(ABLIM2):c.631C>T (p.Arg211Cys)	ABLIM2 (R211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219574	NM_001130083.2(ABLIM2):c.616G>A (p.Ala206Thr)	ABLIM2 (A206T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2395490	NM_001130083.2(ABLIM2):c.580A>C (p.Lys194Gln)	ABLIM2 (K194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531882	NM_001130083.2(ABLIM2):c.527G>T (p.Gly176Val)	ABLIM2 (G176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398260	NM_001130083.2(ABLIM2):c.512A>G (p.Lys171Arg)	ABLIM2 (K171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495971	NM_001130083.2(ABLIM2):c.469G>A (p.Gly157Ser)	ABLIM2 (G157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132164	NM_001130083.2(ABLIM2):c.445G>A (p.Gly149Ser)	ABLIM2 (G149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391121	NM_001130083.2(ABLIM2):c.430G>A (p.Ala144Thr)	ABLIM2 (A144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132154	NM_001130083.2(ABLIM2):c.424A>C (p.Ser142Arg)	ABLIM2 (S142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654643	NM_001130083.2(ABLIM2):c.418G>A (p.Val140Met)	ABLIM2 (V140M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3132146	NM_001130083.2(ABLIM2):c.348C>A (p.Phe116Leu)	ABLIM2 (F116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205703	NM_001130083.2(ABLIM2):c.331G>A (p.Val111Ile)	ABLIM2 (V111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397080	NM_001130083.2(ABLIM2):c.322G>A (p.Val108Met)	ABLIM2 (V108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654644	NM_001130083.2(ABLIM2):c.294G>T (p.Leu98=)	ABLIM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3132135	NM_001130083.2(ABLIM2):c.250T>G (p.Phe84Val)	ABLIM2 (F84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570373	NM_001130083.2(ABLIM2):c.238G>A (p.Gly80Ser)	ABLIM2 (G80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371399	NM_001130083.2(ABLIM2):c.209T>C (p.Ile70Thr)	ABLIM2 (I70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391918	NM_001130083.2(ABLIM2):c.181G>A (p.Gly61Ser)	ABLIM2 (G61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234495	NM_001130083.2(ABLIM2):c.110G>A (p.Arg37Gln)	ABLIM2 (R37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132175	NM_001130083.2(ABLIM2):c.59C>T (p.Thr20Met)	ABLIM2 (T20M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385148	NM_001130083.2(ABLIM2):c.38C>T (p.Pro13Leu)	ABLIM2 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 56