ClinVar for Gene (Select 60312) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3091765	NM_001134647.2(AFAP1):c.991G>A (p.Gly331Arg)	AFAP1 (G331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091761	NM_001134647.2(AFAP1):c.965A>C (p.Lys322Thr)	AFAP1 (K322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091741	NM_001134647.2(AFAP1):c.484C>T (p.Arg162Trp)	AFAP1 (R162W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091736	NM_001134647.2(AFAP1):c.468C>G (p.Ile156Met)	AFAP1 (I156M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091729	NM_001134647.2(AFAP1):c.398A>G (p.Lys133Arg)	AFAP1 (K133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091723	NM_001134647.2(AFAP1):c.342T>G (p.Asp114Glu)	AFAP1 (D114E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091720	NM_001134647.2(AFAP1):c.296C>T (p.Pro99Leu)	AFAP1 (P99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091715	NM_001134647.2(AFAP1):c.283G>C (p.Glu95Gln)	AFAP1 (E95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091712	NM_001134647.2(AFAP1):c.268C>T (p.Pro90Ser)	AFAP1 (P90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091702	NM_001134647.2(AFAP1):c.2396G>A (p.Gly799Glu)	AFAP1, AFAP1-AS1 (G715E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091697	NM_001134647.2(AFAP1):c.2374C>T (p.Pro792Ser)	AFAP1, AFAP1-AS1 (P708S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091683	NM_001134647.2(AFAP1):c.2232G>C (p.Lys744Asn)	AFAP1, AFAP1-AS1 (K660N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091674	NM_001134647.2(AFAP1):c.2132C>T (p.Ala711Val)	AFAP1, AFAP1-AS1 (A627V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091663	NM_001134647.2(AFAP1):c.2091G>C (p.Glu697Asp)	AFAP1, AFAP1-AS1 (E697D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3091656	NM_001134647.2(AFAP1):c.2039G>A (p.Arg680Gln)	AFAP1, AFAP1-AS1 (R596Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091650	NM_001134647.2(AFAP1):c.1838C>A (p.Thr613Asn)	AFAP1, AFAP1-AS1 (T529N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091644	NM_001134647.2(AFAP1):c.1765C>A (p.Leu589Ile)	AFAP1 (L589I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091640	NM_001134647.2(AFAP1):c.173G>C (p.Ser58Thr)	AFAP1 (S58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091625	NM_001134647.2(AFAP1):c.1610A>C (p.Tyr537Ser)	AFAP1 (Y537S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091619	NM_001134647.2(AFAP1):c.1502A>G (p.Tyr501Cys)	AFAP1 (Y501C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091610	NM_001134647.2(AFAP1):c.136G>A (p.Val46Met)	AFAP1 (V46M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091606	NM_001134647.2(AFAP1):c.1312G>T (p.Ala438Ser)	AFAP1 (A438S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 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
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685958	GRCh37/hg19 4p16.1(chr4:7810354-8620214)x3	ABLIM2, ACOX3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2654641	NM_001134647.2(AFAP1):c.1546G>A (p.Gly516Ser)	AFAP1 (G516S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654640	NM_001134647.2(AFAP1):c.2349C>T (p.Ala783=)	AFAP1, AFAP1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654639	NM_001134647.2(AFAP1):c.2436C>T (p.Asn812=)	AFAP1, AFAP1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624200	NM_001134647.2(AFAP1):c.51T>G (p.His17Gln)	AFAP1 (H17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622624	NM_001134647.2(AFAP1):c.2432A>G (p.Lys811Arg)	AFAP1, AFAP1-AS1 (K727R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619323	NM_001134647.2(AFAP1):c.384G>C (p.Glu128Asp)	AFAP1 (E128D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604165	NM_001134647.2(AFAP1):c.2372C>T (p.Ala791Val)	AFAP1, AFAP1-AS1 (A791V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602924	NM_001134647.2(AFAP1):c.2058C>T (p.Asn686=)	AFAP1, AFAP1-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2596372	NM_001134647.2(AFAP1):c.523G>A (p.Val175Ile)	AFAP1 (V175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593526	NM_001134647.2(AFAP1):c.1178G>T (p.Arg393Leu)	AFAP1 (R393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	MRFAP1L1, MSANTD1 +132 more	Copy number loss	not provided	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 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2537687	NM_001134647.2(AFAP1):c.2200G>C (p.Gly734Arg)	AFAP1, AFAP1-AS1 (G650R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526511	NM_001134647.2(AFAP1):c.865G>C (p.Val289Leu)	AFAP1 (V289L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522653	NM_001134647.2(AFAP1):c.2102A>G (p.Gln701Arg)	AFAP1, AFAP1-AS1 (Q617R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2519335	NM_001134647.2(AFAP1):c.1738A>G (p.Asn580Asp)	AFAP1 (N580D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517555	NM_001134647.2(AFAP1):c.1172C>T (p.Pro391Leu)	AFAP1 (P391L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509800	NM_001134647.2(AFAP1):c.1487G>A (p.Gly496Glu)	AFAP1 (G496E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489683	NM_001134647.2(AFAP1):c.26G>C (p.Arg9Pro)	AFAP1 (R9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487441	NM_001134647.2(AFAP1):c.1633A>G (p.Ile545Val)	AFAP1 (I545V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468643	NM_001134647.2(AFAP1):c.253C>G (p.Pro85Ala)	AFAP1 (P85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462484	NM_001134647.2(AFAP1):c.1514C>T (p.Pro505Leu)	AFAP1 (P505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460264	NM_001134647.2(AFAP1):c.2350G>A (p.Val784Ile)	AFAP1, AFAP1-AS1 (V784I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459538	NM_001134647.2(AFAP1):c.989T>G (p.Leu330Arg)	AFAP1 (L330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410119	NM_001134647.2(AFAP1):c.691G>A (p.Val231Ile)	AFAP1 (V231I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402626	NM_001134647.2(AFAP1):c.317C>T (p.Pro106Leu)	AFAP1 (P106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391529	NM_001134647.2(AFAP1):c.2119C>T (p.Arg707Trp)	AFAP1, AFAP1-AS1 (R707W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382839	NM_001134647.2(AFAP1):c.1643G>T (p.Arg548Leu)	AFAP1 (R548L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369400	NM_001134647.2(AFAP1):c.2389T>A (p.Cys797Ser)	AFAP1, AFAP1-AS1 (C713S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360215	NM_001134647.2(AFAP1):c.863T>C (p.Val288Ala)	AFAP1 (V288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331374	NM_001134647.2(AFAP1):c.1094G>A (p.Arg365His)	AFAP1 (R365H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317762	NM_001134647.2(AFAP1):c.716A>G (p.Gln239Arg)	AFAP1 (Q239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311373	NM_001134647.2(AFAP1):c.2047A>G (p.Ile683Val)	AFAP1, AFAP1-AS1 (I599V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292980	NM_001134647.2(AFAP1):c.1871C>T (p.Ala624Val)	AFAP1, AFAP1-AS1 (A540V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267115	NM_001134647.2(AFAP1):c.1730C>A (p.Ser577Tyr)	AFAP1 (S577Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245770	NM_001134647.2(AFAP1):c.499G>C (p.Gly167Arg)	AFAP1 (G167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245707	NM_001134647.2(AFAP1):c.2218G>T (p.Ala740Ser)	AFAP1, AFAP1-AS1 (A656S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240552	NM_001134647.2(AFAP1):c.2093A>G (p.Lys698Arg)	AFAP1, AFAP1-AS1 (K614R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232666	NM_001134647.2(AFAP1):c.2345C>T (p.Ala782Val)	AFAP1, AFAP1-AS1 (A698V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218351	NM_001134647.2(AFAP1):c.1214A>G (p.His405Arg)	AFAP1 (H405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217642	NM_001134647.2(AFAP1):c.1423A>G (p.Arg475Gly)	AFAP1 (R475G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1807874	GRCh37/hg19 4p16.1(chr4:7432891-7817872)x1	AFAP1, PSAPL1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1340188	GRCh37/hg19 4p16.1(chr4:7792998-8731855)x3	ABLIM2, ACOX3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 980672	GRCh37/hg19 4p16.1(chr4:7587545-7837907)x3	AFAP1, SORCS2	Copy number gain	not provided	GUncertain significance
Select item 980670	GRCh37/hg19 4p16.1(chr4:7508812-7912732)x3	SORCS2, AFAP1	Copy number gain	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814531	GRCh37/hg19 4p16.1(chr4:7832164-7927680)x1	AFAP1	Copy number loss	not provided	GUncertain significance
Select item 814530	GRCh37/hg19 4p16.1(chr4:7728036-7802993)x1	SORCS2, AFAP1	Copy number loss	not provided	GUncertain significance
Select item 814529	GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1	ABLIM2, ACOX3 +65 more	Copy number loss	not provided	GLikely pathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 730676	NM_001134647.2(AFAP1):c.2115G>A (p.Glu705=)	AFAP1, AFAP1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 708393	NM_001134647.2(AFAP1):c.645C>T (p.His215=)	AFAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686244	GRCh37/hg19 4p16.1(chr4:7336953-8620214)x3	ABLIM2, ACOX3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 685188	GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1	ABLIM2, ACOX3 +69 more	Copy number loss	not provided	GPathogenic
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic

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