ClinVar for Gene (Select 389206) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2654744	NM_207406.4(BEND4):c.126G>A (p.Glu42=)	BEND4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621480	NM_207406.4(BEND4):c.153C>A (p.His51Gln)	BEND4 (H51Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620759	NM_207406.4(BEND4):c.1412C>G (p.Ser471Cys)	BEND4 (S471C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614591	NM_207406.4(BEND4):c.955G>A (p.Glu319Lys)	BEND4 (E319K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2568897	NM_207406.4(BEND4):c.860T>C (p.Val287Ala)	BEND4 (V287A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551776	NM_207406.4(BEND4):c.440G>A (p.Gly147Asp)	BEND4 (G147D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543958	NM_207406.4(BEND4):c.445G>T (p.Gly149Cys)	BEND4 (G149C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531829	NM_207406.4(BEND4):c.1519G>C (p.Gly507Arg)	BEND4 (G507R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521410	NM_207406.4(BEND4):c.575A>G (p.Asn192Ser)	BEND4 (N192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2483122	NM_207406.4(BEND4):c.186C>G (p.Phe62Leu)	BEND4 (F62L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478765	NM_207406.4(BEND4):c.980A>C (p.Gln327Pro)	BEND4 (Q327P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474784	NM_207406.4(BEND4):c.289G>C (p.Ala97Pro)	BEND4 (A97P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392181	NM_207406.4(BEND4):c.274C>G (p.Arg92Gly)	BEND4 (R92G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388651	NM_207406.4(BEND4):c.181C>T (p.Pro61Ser)	BEND4 (P61S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373342	NM_207406.4(BEND4):c.263C>T (p.Pro88Leu)	BEND4 (P88L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362468	NM_207406.4(BEND4):c.353A>C (p.Gln118Pro)	BEND4 (Q118P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2359847	NM_207406.4(BEND4):c.197C>T (p.Ala66Val)	BEND4 (A66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359752	NM_207406.4(BEND4):c.1352G>A (p.Arg451His)	BEND4 (R451H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353805	NM_207406.4(BEND4):c.965A>G (p.Tyr322Cys)	BEND4 (Y322C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343745	NM_207406.4(BEND4):c.803C>T (p.Ser268Leu)	BEND4 (S268L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333067	NM_207406.4(BEND4):c.494G>A (p.Arg165Gln)	BEND4 (R165Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332855	NM_207406.4(BEND4):c.842C>T (p.Pro281Leu)	BEND4 (P281L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316341	NM_207406.4(BEND4):c.475G>C (p.Glu159Gln)	BEND4 (E159Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310953	NM_207406.4(BEND4):c.850A>G (p.Thr284Ala)	BEND4 (T284A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306360	NM_207406.4(BEND4):c.824A>C (p.His275Pro)	BEND4 (H275P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297784	NM_207406.4(BEND4):c.634C>G (p.Gln212Glu)	BEND4 (Q212E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289337	NM_207406.4(BEND4):c.419C>G (p.Pro140Arg)	BEND4 (P140R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271638	NM_207406.4(BEND4):c.194A>G (p.His65Arg)	BEND4 (H65R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270750	NM_207406.4(BEND4):c.670C>G (p.Gln224Glu)	BEND4 (Q224E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262017	NM_207406.4(BEND4):c.613G>A (p.Gly205Ser)	BEND4 (G205S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256944	NM_207406.4(BEND4):c.832G>C (p.Asp278His)	BEND4 (D278H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246708	NM_207406.4(BEND4):c.395T>G (p.Phe132Cys)	BEND4 (F132C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239261	NM_207406.4(BEND4):c.1466A>T (p.Asp489Val)	BEND4 (D489V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231656	NM_207406.4(BEND4):c.440G>C (p.Gly147Ala)	BEND4 (G147A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 984426	NM_207406.4(BEND4):c.1297G>A (p.Gly433Ser)	BEND4 (G433S)	Single nucleotide variant (missense variant)	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 932461	NM_207406.4(BEND4):c.1419C>T (p.Pro473=)	BEND4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	AASDH, ABLIM2 +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	APBB2, ATP10D +171 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 58