ABLIM1[gene] and "single gene"[properties] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2369375	NM_002313.7(ABLIM1):c.2251G>A (p.Glu751Lys)	ABLIM1 (E691K +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132001	NM_002313.7(ABLIM1):c.2249G>T (p.Arg750Leu)	ABLIM1 (R326L +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131996	NM_002313.7(ABLIM1):c.2197A>G (p.Arg733Gly)	ABLIM1 (R309G +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276832	NM_002313.7(ABLIM1):c.2170A>G (p.Thr724Ala)	ABLIM1 (T410A +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219253	NM_002313.7(ABLIM1):c.2081G>T (p.Gly694Val)	ABLIM1 (G305V +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264403	NM_002313.7(ABLIM1):c.2033A>G (p.Tyr678Cys)	ABLIM1 (Y254C +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131979	NM_002313.7(ABLIM1):c.2024A>G (p.Tyr675Cys)	ABLIM1 (Y312C +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547094	NM_002313.7(ABLIM1):c.1997G>C (p.Arg666Pro)	ABLIM1 (R268P +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212186	NM_002313.7(ABLIM1):c.1997G>A (p.Arg666Gln)	ABLIM1 (R317Q +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131976	NM_002313.7(ABLIM1):c.1894T>C (p.Ser632Pro)	ABLIM1 (S281P +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516134	NM_002313.7(ABLIM1):c.1883G>A (p.Arg628Gln)	ABLIM1 (R230Q +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387001	NM_002313.7(ABLIM1):c.1882C>T (p.Arg628Trp)	ABLIM1 (R277W +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528529	NM_002313.7(ABLIM1):c.1742A>G (p.Asp581Gly)	ABLIM1 (D192G +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131963	NM_002313.7(ABLIM1):c.1690A>T (p.Ile564Phe)	ABLIM1 (I241F +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131960	NM_002313.7(ABLIM1):c.1681A>T (p.Thr561Ser)	ABLIM1 (T451S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131956	NM_002313.7(ABLIM1):c.1621T>G (p.Ser541Ala)	ABLIM1 (S541A +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250259	NM_002313.7(ABLIM1):c.1516G>A (p.Ala506Thr)	ABLIM1 (A164T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360950	NM_002313.7(ABLIM1):c.1471C>A (p.Pro491Thr)	ABLIM1 (P203T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366865	NM_002313.7(ABLIM1):c.1459G>A (p.Gly487Ser)	ABLIM1 (G171S +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375043	NM_002313.7(ABLIM1):c.1415G>A (p.Arg472His)	ABLIM1 (R395H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229063	NM_002313.7(ABLIM1):c.1409C>T (p.Thr470Met)	ABLIM1 (T182M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459666	NM_002313.7(ABLIM1):c.1387C>T (p.Arg463Cys)	ABLIM1 (R121C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378203	NM_002313.7(ABLIM1):c.1381T>G (p.Tyr461Asp)	ABLIM1 (Y309D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536344	NM_002313.7(ABLIM1):c.1343A>T (p.His448Leu)	ABLIM1 (H388L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492150	NM_002313.7(ABLIM1):c.1334G>A (p.Arg445Gln)	ABLIM1 (R103Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131943	NM_002313.7(ABLIM1):c.1285A>T (p.Thr429Ser)	ABLIM1 (T113S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131941	NM_002313.7(ABLIM1):c.1283G>A (p.Arg428Lys)	ABLIM1 (R352K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131938	NM_002313.7(ABLIM1):c.1216T>C (p.Tyr406His)	ABLIM1 (Y330H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281368	NM_002313.7(ABLIM1):c.1100C>T (p.Ser367Leu)	ABLIM1 (S290L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588585	NM_002313.7(ABLIM1):c.1082G>C (p.Gly361Ala)	ABLIM1 (G285A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464292	NM_002313.7(ABLIM1):c.1079C>G (p.Pro360Arg)	ABLIM1 (P208R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247604	NM_002313.7(ABLIM1):c.948G>C (p.Gln316His)	ABLIM1 (Q164H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457210	NM_002313.7(ABLIM1):c.916C>T (p.Pro306Ser)	ABLIM1 (P246S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307488	NM_002313.7(ABLIM1):c.901G>A (p.Asp301Asn)	ABLIM1 (D225N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398116	NM_002313.7(ABLIM1):c.812C>T (p.Pro271Leu)	ABLIM1 (P119L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245532	NM_002313.7(ABLIM1):c.695A>G (p.Asp232Gly)	ABLIM1 (D172G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640865	NC_000010.11:g.114571296CTG[3]	ABLIM1	Microsatellite (genic upstream transcript variant)	not provided	GLikely benign
Select item 2556127	NM_002313.7(ABLIM1):c.671G>A (p.Ser224Asn)	ABLIM1 (S224N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396316	NM_002313.7(ABLIM1):c.566G>A (p.Arg189His)	ABLIM1 (R129H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132027	NM_002313.7(ABLIM1):c.489G>C (p.Glu163Asp)	ABLIM1 (E103D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397345	NM_002313.7(ABLIM1):c.478G>A (p.Gly160Ser)	ABLIM1 (G83S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132020	NM_002313.7(ABLIM1):c.463G>A (p.Gly155Arg)	ABLIM1 (G95R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132018	NM_002313.7(ABLIM1):c.457A>G (p.Met153Val)	ABLIM1 (M153V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132013	NM_002313.7(ABLIM1):c.455G>A (p.Arg152Gln)	ABLIM1 (R75Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223085	NM_002313.7(ABLIM1):c.409T>C (p.Phe137Leu)	ABLIM1 (F137L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246733	NM_002313.7(ABLIM1):c.253C>G (p.Pro85Ala)	ABLIM1 (P85A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275398	NM_002313.7(ABLIM1):c.223T>C (p.Cys75Arg)	ABLIM1 (C75R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372841	NM_002313.7(ABLIM1):c.217C>T (p.Arg73Cys)	ABLIM1 (R73C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621254	NM_002313.7(ABLIM1):c.176A>G (p.His59Arg)	ABLIM1 (H59R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367109	NM_002313.7(ABLIM1):c.164C>G (p.Ala55Gly)	ABLIM1 (A55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132058	NM_002313.7(ABLIM1):c.95C>T (p.Ser32Leu)	ABLIM1 (S32L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 686791	GRCh37/hg19 10q25.3(chr10:116322646-116572153)x3	ABLIM1	Copy number gain	not provided	GUncertain significance
Select item 563722	GRCh37/hg19 10q25.3(chr10:116322646-116572153)x3	ABLIM1	Copy number gain	not provided	GLikely benign

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Items: 53