ABLIM1[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	LOC130004765, LOC130004766 +109 more	Copy number loss	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
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 2365309	NM_002313.7(ABLIM1):c.991G>A (p.Val331Ile)	ABLIM1, LOC126861051 (V271I +5 more)	Single nucleotide variant (missense variant)	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 146484	GRCh38/hg38 10q25.3(chr10:114584882-115096595)x3	ABLIM1, ATRNL1 +18 more	Copy number gain	See cases	GLikely benign
Select item 57171	GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1	ABLIM1, ATRNL1 +45 more	Copy number loss	See cases	GPathogenic
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 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 687953	GRCh37/hg19 10q25.3(chr10:116139681-116522804)x3	ABLIM1, AFAP1L2	Copy number gain	not provided	GUncertain significance
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 686791	GRCh37/hg19 10q25.3(chr10:116322646-116572153)x3	ABLIM1	Copy number gain	not provided	GUncertain significance
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563722	GRCh37/hg19 10q25.3(chr10:116322646-116572153)x3	ABLIM1	Copy number gain	not provided	GLikely benign
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 85