ZC3HC1[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 3192470	NM_016478.5(ZC3HC1):c.1481G>A (p.Arg494Gln)	UBE2H-DT, ZC3HC1 (R451Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334124	NM_016478.5(ZC3HC1):c.1438A>T (p.Met480Leu)	UBE2H-DT, ZC3HC1 (M459L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385136	NM_016478.5(ZC3HC1):c.1430C>T (p.Thr477Met)	UBE2H-DT, ZC3HC1 (T434M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192469	NM_016478.5(ZC3HC1):c.1403A>T (p.His468Leu)	UBE2H-DT, ZC3HC1 (H447L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468814	NM_016478.5(ZC3HC1):c.1354G>A (p.Ala452Thr)	UBE2H-DT, ZC3HC1 (A381T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192468	NM_016478.5(ZC3HC1):c.1231T>G (p.Ser411Ala)	UBE2H-DT, ZC3HC1 (S368A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461244	NM_016478.5(ZC3HC1):c.1211G>A (p.Arg404His)	UBE2H-DT, ZC3HC1 (R383H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192467	NM_016478.5(ZC3HC1):c.1210C>T (p.Arg404Cys)	UBE2H-DT, ZC3HC1 (R383C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480614	NM_016478.5(ZC3HC1):c.1207G>C (p.Ala403Pro)	UBE2H-DT, ZC3HC1 (A360P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601653	NM_016478.5(ZC3HC1):c.1205G>A (p.Arg402Gln)	UBE2H-DT, ZC3HC1 (R402Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474742	NM_016478.5(ZC3HC1):c.1193G>A (p.Arg398Gln)	UBE2H-DT, ZC3HC1 (R377Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375121	NM_016478.5(ZC3HC1):c.1068C>G (p.Asp356Glu)	UBE2H-DT, ZC3HC1 (D335E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473271	NM_016478.5(ZC3HC1):c.1058G>A (p.Arg353Gln)	UBE2H-DT, ZC3HC1 (R310Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349590	NM_016478.5(ZC3HC1):c.1057C>T (p.Arg353Trp)	UBE2H-DT, ZC3HC1 (R353W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356962	NM_016478.5(ZC3HC1):c.940C>T (p.Arg314Cys)	UBE2H-DT, ZC3HC1 (R271C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471965	NM_016478.5(ZC3HC1):c.919G>C (p.Gly307Arg)	UBE2H-DT, ZC3HC1 (G264R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192474	NM_016478.5(ZC3HC1):c.871A>G (p.Met291Val)	UBE2H-DT, ZC3HC1 (M291V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483945	NM_016478.5(ZC3HC1):c.683G>T (p.Arg228Leu)	UBE2H-DT, ZC3HC1 (R228L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192473	NM_016478.5(ZC3HC1):c.507G>A (p.Met169Ile)	ZC3HC1 (M148I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484282	NM_016478.5(ZC3HC1):c.491C>A (p.Pro164Gln)	ZC3HC1 (P143Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407259	NM_016478.5(ZC3HC1):c.475C>T (p.Pro159Ser)	ZC3HC1 (P138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192472	NM_016478.5(ZC3HC1):c.449C>A (p.Thr150Asn)	ZC3HC1 (T129N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192471	NM_016478.5(ZC3HC1):c.405C>G (p.Asp135Glu)	ZC3HC1 (D114E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382046	NM_016478.5(ZC3HC1):c.340A>G (p.Met114Val)	ZC3HC1 (M114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233568	NM_016478.5(ZC3HC1):c.301G>A (p.Val101Ile)	ZC3HC1 (V101I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246783	NM_016478.5(ZC3HC1):c.298C>T (p.Leu100Phe)	ZC3HC1 (L100F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519117	NM_016478.5(ZC3HC1):c.247G>A (p.Glu83Lys)	ZC3HC1 (E83K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238641	NM_016478.5(ZC3HC1):c.229G>A (p.Ala77Thr)	ZC3HC1 (A56T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402875	NM_016478.5(ZC3HC1):c.180T>A (p.Asn60Lys)	ZC3HC1 (N60K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357194	NM_016478.5(ZC3HC1):c.115G>T (p.Gly39Trp)	ZC3HC1 (G39W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404646	NM_016478.5(ZC3HC1):c.94A>G (p.Ile32Val)	ZC3HC1 (I32V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2359006	NM_016478.5(ZC3HC1):c.85C>T (p.Pro29Ser)	ZC3HC1 (P29S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2353457	NM_016478.5(ZC3HC1):c.83C>A (p.Thr28Asn)	ZC3HC1 (T28N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2541463	NM_016478.5(ZC3HC1):c.74C>T (p.Pro25Leu)	ZC3HC1 (P25L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2541461	NM_016478.5(ZC3HC1):c.73C>T (p.Pro25Ser)	ZC3HC1 (P25S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 1809263	GRCh37/hg19 7q32.2(chr7:129442838-129877274)x3	KLHDC10, SSMEM1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808208	GRCh37/hg19 7q32.1-33(chr7:129147455-132777678)x1	CEP41, CHCHD3 +25 more	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 979795	GRCh37/hg19 7q32.2-33(chr7:129605827-133093756)x3	CPA5, MEST +20 more	Copy number gain	not provided	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic

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Items: 61