ZC2HC1C[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 148020	GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1	ACYP1, BATF +71 more	Copy number loss	See cases	GUncertain significance
Select item 2340522	NM_024643.4(ZC2HC1C):c.233C>T (p.Thr78Ile)	ZC2HC1C (T78I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248866	NM_024643.4(ZC2HC1C):c.242G>A (p.Arg81Gln)	ZC2HC1C (R81Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2530914	NM_024643.4(ZC2HC1C):c.268G>A (p.Gly90Arg)	ZC2HC1C (G90R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281937	NM_024643.4(ZC2HC1C):c.604G>A (p.Val202Met)	ZC2HC1C (V202M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2560056	NM_024643.4(ZC2HC1C):c.663G>C (p.Glu221Asp)	ZC2HC1C (E221D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560057	NM_024643.4(ZC2HC1C):c.664A>T (p.Ser222Cys)	ZC2HC1C (S222C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259978	NM_024643.4(ZC2HC1C):c.805C>T (p.Pro269Ser)	ZC2HC1C (P269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279538	NM_024643.4(ZC2HC1C):c.994G>A (p.Val332Ile)	ZC2HC1C (V332I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540789	NM_024643.4(ZC2HC1C):c.1037C>T (p.Ser346Leu)	ZC2HC1C (S346L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2412463	NM_024643.4(ZC2HC1C):c.1039G>A (p.Val347Met)	ZC2HC1C (V347M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2510441	NM_024643.4(ZC2HC1C):c.1141G>A (p.Gly381Ser)	ZC2HC1C (G381S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298147	NM_024643.4(ZC2HC1C):c.1148T>C (p.Ile383Thr)	ZC2HC1C (I383T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2246681	NM_024643.4(ZC2HC1C):c.1151A>T (p.Glu384Val)	ZC2HC1C (E384V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458128	NM_024643.4(ZC2HC1C):c.1234A>G (p.Arg412Gly)	ZC2HC1C (R412G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619583	NM_024643.4(ZC2HC1C):c.1312A>C (p.Asn438His)	ZC2HC1C (N438H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	RBM25, LIN52 +59 more	Deletion	Intellectual disability, mild +3 more	GLikely pathogenic

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Items: 31