ZC2HC1B[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 153365	GRCh38/hg38 6q24.2(chr6:143618974-144413183)x3	HYMAI, LOC113146422 +45 more	Copy number gain	See cases	GPathogenic
Select item 2407560	NM_001013623.3(ZC2HC1B):c.25G>T (p.Ala9Ser)	ZC2HC1B (A9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334007	NM_001013623.3(ZC2HC1B):c.84T>A (p.Asp28Glu)	ZC2HC1B (D28E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383616	NM_001013623.3(ZC2HC1B):c.109T>C (p.Cys37Arg)	ZC2HC1B (C37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192228	NM_001013623.3(ZC2HC1B):c.134G>A (p.Arg45His)	ZC2HC1B (R45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253516	NM_001013623.3(ZC2HC1B):c.287G>A (p.Cys96Tyr)	ZC2HC1B (C96Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296676	NM_001013623.3(ZC2HC1B):c.301A>G (p.Lys101Glu)	ZC2HC1B (K101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334008	NM_001013623.3(ZC2HC1B):c.356T>G (p.Ile119Ser)	ZC2HC1B (I119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492545	NM_001013623.3(ZC2HC1B):c.394G>C (p.Ala132Pro)	ZC2HC1B (A132P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372849	NM_001013623.3(ZC2HC1B):c.404G>A (p.Arg135Gln)	ZC2HC1B (R135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455651	NM_001013623.3(ZC2HC1B):c.412A>G (p.Asn138Asp)	ZC2HC1B (N138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192229	NM_001013623.3(ZC2HC1B):c.419G>A (p.Cys140Tyr)	ZC2HC1B (C140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622563	NM_001013623.3(ZC2HC1B):c.440G>A (p.Arg147Gln)	ZC2HC1B (R147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241176	NM_001013623.3(ZC2HC1B):c.461C>G (p.Thr154Arg)	ZC2HC1B (T154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285617	NM_001013623.3(ZC2HC1B):c.536C>T (p.Ala179Val)	ZC2HC1B (A179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223369	NM_001013623.3(ZC2HC1B):c.560G>C (p.Arg187Thr)	ZC2HC1B (R187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062907	GRCh37/hg19 6q24.2(chr6:144206499-144709592)x3	HYMAI, PLAGL1 +4 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2424710	NC_000006.11:g.(?_142623467)_(144508628_?)del	ADAT2, ADGRG6 +11 more	Deletion	not provided	GPathogenic
Select item 1527300	GRCh37/hg19 6q24.2(chr6:143874282-145071930)	HYMAI, LTV1 +6 more	Copy number gain	not specified	GPathogenic
Select item 1527299	GRCh37/hg19 6q24.2-24.3(chr6:143331663-145817051)	ADAT2, AIG1 +10 more	Copy number gain	not specified	GPathogenic
Select item 1071172	NC_000006.11:g.(?_143772160)_(144508648_?)del	FUCA2, HYMAI +7 more	Deletion	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic

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Items: 31