AFAP1L1[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 3091867	NM_152406.4(AFAP1L1):c.68A>G (p.His23Arg)	AFAP1L1 (H23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091880	NM_152406.4(AFAP1L1):c.86C>T (p.Thr29Ile)	AFAP1L1 (T29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407132	NM_152406.4(AFAP1L1):c.104T>C (p.Met35Thr)	AFAP1L1 (M35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274306	NM_152406.4(AFAP1L1):c.175A>C (p.Thr59Pro)	AFAP1L1 (T59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537162	NM_152406.4(AFAP1L1):c.248T>A (p.Leu83His)	AFAP1L1 (L83H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550622	NM_152406.4(AFAP1L1):c.286G>A (p.Gly96Arg)	AFAP1L1 (G96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091846	NM_152406.4(AFAP1L1):c.317G>T (p.Arg106Leu)	AFAP1L1 (R106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519069	NM_152406.4(AFAP1L1):c.347C>T (p.Pro116Leu)	AFAP1L1 (P116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274296	NM_152406.4(AFAP1L1):c.362C>T (p.Pro121Leu)	AFAP1L1 (P121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274276	NM_152406.4(AFAP1L1):c.367C>T (p.Pro123Ser)	AFAP1L1 (P123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367449	NM_152406.4(AFAP1L1):c.406G>A (p.Gly136Ser)	AFAP1L1 (G136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329184	NM_152406.4(AFAP1L1):c.418G>A (p.Glu140Lys)	AFAP1L1 (E140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091855	NM_152406.4(AFAP1L1):c.424A>G (p.Ile142Val)	AFAP1L1 (I142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222580	NM_152406.4(AFAP1L1):c.458C>T (p.Ser153Leu)	AFAP1L1 (S153L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274264	NM_152406.4(AFAP1L1):c.511G>A (p.Val171Met)	AFAP1L1 (V171M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3091862	NM_152406.4(AFAP1L1):c.520G>A (p.Glu174Lys)	AFAP1L1 (E174K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253961	NM_152406.4(AFAP1L1):c.620A>C (p.Gln207Pro)	AFAP1L1 (Q174P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091872	NM_152406.4(AFAP1L1):c.695G>A (p.Arg232His)	AFAP1L1 (R199H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091876	NM_152406.4(AFAP1L1):c.746T>C (p.Leu249Pro)	AFAP1L1 (L216P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316838	NM_152406.4(AFAP1L1):c.913G>A (p.Glu305Lys)	AFAP1L1 (E272K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091888	NM_152406.4(AFAP1L1):c.935G>A (p.Arg312Gln)	AFAP1L1 (R279Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091894	NM_152406.4(AFAP1L1):c.989C>T (p.Pro330Leu)	AFAP1L1 (P330L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547916	NM_152406.4(AFAP1L1):c.994C>T (p.Leu332Phe)	AFAP1L1 (L299F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091769	NM_152406.4(AFAP1L1):c.1096C>T (p.Arg366Trp)	AFAP1L1 (R333W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599505	NM_152406.4(AFAP1L1):c.1187G>A (p.Arg396His)	AFAP1L1 (R396H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091773	NM_152406.4(AFAP1L1):c.1201T>C (p.Ser401Pro)	AFAP1L1 (S401P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274286	NM_152406.4(AFAP1L1):c.1319T>C (p.Leu440Pro)	AFAP1L1 (L407P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592094	NM_152406.4(AFAP1L1):c.1424G>A (p.Arg475Gln)	AFAP1L1 (R442Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598039	NM_152406.4(AFAP1L1):c.1550C>T (p.Pro517Leu)	AFAP1L1 (P484L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354750	NM_152406.4(AFAP1L1):c.1565A>G (p.Tyr522Cys)	AFAP1L1 (Y522C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340364	NM_152406.4(AFAP1L1):c.1675G>A (p.Asp559Asn)	AFAP1L1 (D559N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274253	NM_152406.4(AFAP1L1):c.1702G>A (p.Glu568Lys)	AFAP1L1 (E535K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091786	NM_152406.4(AFAP1L1):c.1723G>A (p.Gly575Arg)	AFAP1L1 (G542R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358847	NM_152406.4(AFAP1L1):c.1738C>T (p.Arg580Cys)	AFAP1L1 (R580C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091796	NM_152406.4(AFAP1L1):c.1744G>A (p.Ala582Thr)	AFAP1L1 (A549T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352563	NM_152406.4(AFAP1L1):c.1771C>T (p.Arg591Cys)	AFAP1L1 (R591C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292032	NM_152406.4(AFAP1L1):c.1781C>T (p.Pro594Leu)	AFAP1L1 (P594L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296490	NM_152406.4(AFAP1L1):c.1785G>C (p.Gln595His)	AFAP1L1 (Q562H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592667	NM_152406.4(AFAP1L1):c.1841G>A (p.Arg614Gln)	AFAP1L1 (R614Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375561	NM_152406.4(AFAP1L1):c.1874A>G (p.Glu625Gly)	AFAP1L1 (E592G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412137	NM_152406.4(AFAP1L1):c.1904C>T (p.Thr635Met)	AFAP1L1 (T635M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321972	NM_152406.4(AFAP1L1):c.1909C>T (p.Arg637Trp)	AFAP1L1 (R637W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229690	NM_152406.4(AFAP1L1):c.2001A>C (p.Glu667Asp)	AFAP1L1 (E634D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091823	NM_152406.4(AFAP1L1):c.2021C>T (p.Ala674Val)	AFAP1L1 (A641V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466305	NM_152406.4(AFAP1L1):c.2048G>A (p.Arg683Gln)	AFAP1L1 (R683Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480506	NM_152406.4(AFAP1L1):c.2077G>A (p.Val693Met)	AFAP1L1 (V693M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262426	NM_152406.4(AFAP1L1):c.2123G>A (p.Gly708Glu)	AFAP1L1 (G675E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091835	NM_152406.4(AFAP1L1):c.2144C>T (p.Pro715Leu)	AFAP1L1 (P715L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393438	NM_152406.4(AFAP1L1):c.2245G>A (p.Val749Ile)	AFAP1L1 (V716I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425319	NC_000005.9:g.(?_147774340)_(149681936_?)del	ABLIM3, ADRB2 +23 more	Deletion	not provided	GUncertain significance
Select item 1808574	GRCh37/hg19 5q32(chr5:147164969-149315489)x1	ABLIM3, ADRB2 +23 more	Copy number loss	not provided	GPathogenic
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCNH, CCNI2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 64