ZCCHC4[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	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 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 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 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	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 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 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 146078	GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1	ANAPC4, CCDC149 +101 more	Copy number loss	See cases	GPathogenic
Select item 156912	NM_018176.3(LGI2):c.-473617_-693dup	LOC129992333, LOC129992334 +14 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 2246730	NM_024936.3(ZCCHC4):c.10T>A (p.Ser4Thr)	ZCCHC4 (S4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334164	NM_024936.3(ZCCHC4):c.29C>T (p.Ala10Val)	ZCCHC4 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791974	NM_024936.3(ZCCHC4):c.89C>T (p.Pro30Leu)	ZCCHC4 (P30L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2296559	NM_024936.3(ZCCHC4):c.98C>G (p.Pro33Arg)	ZCCHC4 (P33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339975	NM_024936.3(ZCCHC4):c.103G>A (p.Val35Ile)	ZCCHC4 (V35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241908	NM_024936.3(ZCCHC4):c.146T>C (p.Val49Ala)	ZCCHC4 (V49A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230647	NM_024936.3(ZCCHC4):c.194C>T (p.Ser65Leu)	ZCCHC4 (S65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294837	NM_024936.3(ZCCHC4):c.212A>G (p.Lys71Arg)	ZCCHC4 (K71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203809	NM_024936.3(ZCCHC4):c.241G>C (p.Glu81Gln)	ZCCHC4 (E81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192555	NM_024936.3(ZCCHC4):c.292T>C (p.Cys98Arg)	ZCCHC4 (C98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192556	NM_024936.3(ZCCHC4):c.376C>G (p.Gln126Glu)	ZCCHC4 (Q126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720329	NM_024936.3(ZCCHC4):c.443A>G (p.Asn148Ser)	ZCCHC4 (N148S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720330	NM_024936.3(ZCCHC4):c.475C>A (p.Gln159Lys)	ZCCHC4 (Q159K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3334162	NM_024936.3(ZCCHC4):c.523T>C (p.Phe175Leu)	ZCCHC4 (F175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349556	NM_024936.3(ZCCHC4):c.644A>C (p.Lys215Thr)	ZCCHC4 (K215T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654699	NM_024936.3(ZCCHC4):c.711T>C (p.Asp237=)	ZCCHC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2372408	NM_024936.3(ZCCHC4):c.853C>G (p.Pro285Ala)	ZCCHC4 (P285A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720331	NM_024936.3(ZCCHC4):c.1011+4G>A	ZCCHC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2393719	NM_024936.3(ZCCHC4):c.1029T>A (p.His343Gln)	ZCCHC4 (H343Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192546	NM_024936.3(ZCCHC4):c.1045G>A (p.Gly349Arg)	ZCCHC4 (G349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374584	NM_024936.3(ZCCHC4):c.1070C>T (p.Pro357Leu)	ZCCHC4 (P357L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247739	NM_024936.3(ZCCHC4):c.1072G>A (p.Val358Met)	ZCCHC4 (V358M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341822	NM_024936.3(ZCCHC4):c.1127G>C (p.Gly376Ala)	ZCCHC4 (G376A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237719	NM_024936.3(ZCCHC4):c.1135T>G (p.Phe379Val)	ZCCHC4 (F379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293631	NM_024936.3(ZCCHC4):c.1145C>G (p.Pro382Arg)	ZCCHC4 (P382R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775952	NM_024936.3(ZCCHC4):c.1145C>T (p.Pro382Leu)	ZCCHC4 (P382L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2460253	NM_024936.3(ZCCHC4):c.1153C>T (p.Arg385Trp)	ZCCHC4 (R385W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334163	NM_024936.3(ZCCHC4):c.1165C>A (p.Leu389Ile)	ZCCHC4 (L389I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192547	NM_024936.3(ZCCHC4):c.1202C>T (p.Thr401Ile)	ZCCHC4 (T401I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192548	NM_024936.3(ZCCHC4):c.1258C>A (p.Pro420Thr)	ZCCHC4 (P420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192549	NM_024936.3(ZCCHC4):c.1286A>G (p.Asn429Ser)	ZCCHC4 (N429S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396390	NM_024936.3(ZCCHC4):c.1297G>A (p.Val433Ile)	ZCCHC4 (V433I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192550	NM_024936.3(ZCCHC4):c.1321C>G (p.Pro441Ala)	ZCCHC4 (P441A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192551	NM_024936.3(ZCCHC4):c.1363C>T (p.Arg455Cys)	ZCCHC4 (R455C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192552	NM_024936.3(ZCCHC4):c.1364G>A (p.Arg455His)	ZCCHC4 (R455H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192553	NM_024936.3(ZCCHC4):c.1369A>G (p.Thr457Ala)	ZCCHC4 (T457A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546461	NM_024936.3(ZCCHC4):c.1418A>G (p.Lys473Arg)	ZCCHC4 (K473R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377674	NM_024936.3(ZCCHC4):c.1422G>T (p.Gln474His)	ZCCHC4 (Q474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334160	NM_024936.3(ZCCHC4):c.1460C>T (p.Thr487Met)	ZCCHC4 (T487M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246737	NC_000004.11:g.(?_25125553)_(26492222_?)dup	ANAPC4, CCKAR +7 more	Duplication	not provided	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	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 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 1527079	GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)	ANAPC4, CCDC149 +15 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527077	GRCh37/hg19 4p15.31-14(chr4:19892850-37325128)	ADGRA3, ANAPC4 +23 more	Copy number loss	not specified	GPathogenic
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 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814537	GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1	ADGRA3, ANAPC4 +19 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 625699	GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	ADGRA3, ANAPC4 +42 more	Copy number loss	not provided	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	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	HTRA3, HTT +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	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +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 253450	GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1	ZCCHC4, RBPJ +14 more	Copy number loss	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic

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Items: 72