ClinVar for Gene (Select 23150) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 2653962	NM_015123.3(FRMD4B):c.885A>G (p.Gln295=)	FRMD4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620702	NM_015123.3(FRMD4B):c.1529A>G (p.Gln510Arg)	FRMD4B (Q510R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602774	NM_015123.3(FRMD4B):c.1838C>A (p.Pro613His)	FRMD4B (P613H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601328	NM_015123.3(FRMD4B):c.1924A>G (p.Met642Val)	FRMD4B (M642V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599956	NM_015123.3(FRMD4B):c.2390A>G (p.Gln797Arg)	FRMD4B (Q797R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596861	NM_015123.3(FRMD4B):c.3013G>C (p.Gly1005Arg)	FRMD4B (G1005R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595841	NM_015123.3(FRMD4B):c.1354T>G (p.Cys452Gly)	FRMD4B (C452G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591028	NM_015123.3(FRMD4B):c.872G>A (p.Arg291Gln)	FRMD4B (R291Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569070	NM_015123.3(FRMD4B):c.1882T>C (p.Ser628Pro)	FRMD4B (S628P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558259	NM_015123.3(FRMD4B):c.2296T>A (p.Ser766Thr)	FRMD4B (S766T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531714	NM_015123.3(FRMD4B):c.1445G>A (p.Gly482Asp)	FRMD4B (G482D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518202	NM_015123.3(FRMD4B):c.2347G>C (p.Ala783Pro)	FRMD4B (A783P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491116	NM_015123.3(FRMD4B):c.1350G>T (p.Lys450Asn)	FRMD4B (K450N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461868	NM_015123.3(FRMD4B):c.2546G>A (p.Arg849His)	FRMD4B (R849H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455360	NM_015123.3(FRMD4B):c.2603A>T (p.Asn868Ile)	FRMD4B (N868I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409955	NM_015123.3(FRMD4B):c.2732A>G (p.Asp911Gly)	FRMD4B (D911G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404186	NM_015123.3(FRMD4B):c.871C>T (p.Arg291Trp)	FRMD4B (R291W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392048	NM_015123.3(FRMD4B):c.2575G>A (p.Glu859Lys)	FRMD4B (E859K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384915	NM_015123.3(FRMD4B):c.2279C>G (p.Thr760Ser)	FRMD4B (T760S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372227	NM_015123.3(FRMD4B):c.2054C>G (p.Ser685Cys)	FRMD4B (S685C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365806	NM_015123.3(FRMD4B):c.1111A>G (p.Arg371Gly)	FRMD4B (R371G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349728	NM_015123.3(FRMD4B):c.1969C>G (p.Pro657Ala)	FRMD4B (P657A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348749	NM_015123.3(FRMD4B):c.955A>C (p.Ile319Leu)	FRMD4B (I319L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344644	NM_015123.3(FRMD4B):c.314T>C (p.Ile105Thr)	FRMD4B (I105T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2330579	NM_015123.3(FRMD4B):c.1988T>C (p.Met663Thr)	FRMD4B (M663T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307064	NM_015123.3(FRMD4B):c.146T>A (p.Leu49Gln)	FRMD4B (L49Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306576	NM_015123.3(FRMD4B):c.395C>T (p.Thr132Ile)	FRMD4B (T132I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302824	NM_015123.3(FRMD4B):c.2470G>A (p.Val824Ile)	FRMD4B (V824I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295194	NM_015123.3(FRMD4B):c.206G>A (p.Arg69Lys)	FRMD4B (R69K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291426	NM_015123.3(FRMD4B):c.2831G>A (p.Arg944His)	FRMD4B (R944H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289348	NM_015123.3(FRMD4B):c.844T>C (p.Tyr282His)	FRMD4B (Y282H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285630	NM_015123.3(FRMD4B):c.1360C>T (p.Arg454Trp)	FRMD4B (R454W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265998	NM_015123.3(FRMD4B):c.1601G>A (p.Arg534Gln)	FRMD4B (R534Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265654	NM_015123.3(FRMD4B):c.2900G>A (p.Gly967Glu)	FRMD4B (G967E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258427	NM_015123.3(FRMD4B):c.843A>C (p.Gln281His)	FRMD4B (Q281H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240500	NM_015123.3(FRMD4B):c.2774G>A (p.Gly925Glu)	FRMD4B (G925E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235664	NM_015123.3(FRMD4B):c.586G>A (p.Glu196Lys)	FRMD4B (E196K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234418	NM_015123.3(FRMD4B):c.1997C>T (p.Thr666Met)	FRMD4B (T666M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231715	NM_015123.3(FRMD4B):c.1966C>T (p.Arg656Trp)	FRMD4B (R656W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228255	NM_015123.3(FRMD4B):c.2518C>T (p.Arg840Trp)	FRMD4B (R840W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216281	NM_015123.3(FRMD4B):c.2442G>C (p.Glu814Asp)	FRMD4B (E814D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211498	NM_015123.3(FRMD4B):c.433A>G (p.Ile145Val)	FRMD4B (I145V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205433	NM_015123.3(FRMD4B):c.2747C>T (p.Pro916Leu)	FRMD4B (P916L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1527023	GRCh37/hg19 3p14.1(chr3:69400361-69567494)	FRMD4B	Copy number loss	not specified	GUncertain significance
Select item 1341307	GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not provided	GPathogenic
Select item 1340927	GRCh37/hg19 3p14.1-13(chr3:68968872-70829637)x3	ARL6IP5, EOGT +6 more	Copy number gain	not provided	GUncertain significance
Select item 1064533	Single allele	EIF4E3, EOGT +12 more	Deletion	See cases	GPathogenic
Select item 782988	NM_015123.3(FRMD4B):c.2677G>T (p.Ala893Ser)	FRMD4B (A893S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 685612	GRCh37/hg19 3p14.1(chr3:68831471-69535890)x3	ARL6IP5, EOGT +5 more	Copy number gain	not provided	GUncertain significance
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442147	GRCh37/hg19 3p14.1(chr3:69181746-69411305)x1	FRMD4B	Copy number loss	See cases	GUncertain significance
Select item 154137	GRCh38/hg38 3p14.1-13(chr3:69428068-70977848)x3	FOXP1, FRMD4B +19 more	Copy number gain	See cases	GLikely benign
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ROBO1, ROBO2 +481 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 76