ABLIM2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 144199	GRCh38/hg38 4p16.1(chr4:7580779-8153342)x3	ABLIM2, AFAP1 +19 more	Copy number gain	See cases	GUncertain significance
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 3327753	NM_001130083.2(ABLIM2):c.1873G>A (p.Glu625Lys)	ABLIM2 (E326K +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)	not specified	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 3327215	NM_001130083.2(ABLIM2):c.1535A>T (p.Asp512Val)	ABLIM2 (D512V +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 3327929	NM_001130083.2(ABLIM2):c.1372A>G (p.Thr458Ala)	ABLIM2 (T425A +2 more)	Single nucleotide variant (missense variant +1 more)	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 3327662	NM_001130083.2(ABLIM2):c.1280G>A (p.Gly427Asp)	ABLIM2 (G427D +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 3327593	NM_001130083.2(ABLIM2):c.1081C>T (p.Arg361Trp)	ABLIM2 (R129W +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 3326834	NM_001130083.2(ABLIM2):c.1045G>A (p.Glu349Lys)	ABLIM2 (E106K +1 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 3327305	NM_001130083.2(ABLIM2):c.878G>T (p.Gly293Val)	ABLIM2 (G50V +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 3327500	NM_001130083.2(ABLIM2):c.724G>A (p.Gly242Ser)	ABLIM2 (G242S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327844	NM_001130083.2(ABLIM2):c.697C>T (p.Pro233Ser)	ABLIM2 (P233S)	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 3327115	NM_001130083.2(ABLIM2):c.313G>A (p.Asp105Asn)	ABLIM2 (D105N)	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 3327403	NM_001130083.2(ABLIM2):c.175G>A (p.Glu59Lys)	ABLIM2 (E59K)	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
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic

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