ClinVar for Gene (Select 84740) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274232	NM_001134647.2(AFAP1):c.2177G>A (p.Ser726Asn)	AFAP1, AFAP1-AS1 (S642N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274196	NM_001134647.2(AFAP1):c.2162C>T (p.Thr721Met)	AFAP1, AFAP1-AS1 (T637M +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 provided +1 more	GLikely benign
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 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 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 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 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 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 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 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 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 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 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	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 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	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 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 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 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	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 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 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 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 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 144199	GRCh38/hg38 4p16.1(chr4:7580779-8153342)x3	ABLIM2, AFAP1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	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 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	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 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	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 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 56