ZC2HC1A[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	LOC130000438, LOC130000439 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000602, LOC130000603 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	LOC130000640, LOC130000641 +245 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000617, LOC130000618 +191 more	Copy number loss	See cases	GPathogenic
Select item 144237	GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1	CASC9, CRISPLD1 +115 more	Copy number loss	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 2411103	NM_016010.3(ZC2HC1A):c.13G>A (p.Glu5Lys)	ZC2HC1A (E5K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 2206500	NM_016010.3(ZC2HC1A):c.136C>T (p.Arg46Trp)	IL7, ZC2HC1A (R46W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221285	NM_016010.3(ZC2HC1A):c.206C>T (p.Pro69Leu)	IL7, ZC2HC1A (P69L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589650	NM_016010.3(ZC2HC1A):c.244A>G (p.Arg82Gly)	IL7, ZC2HC1A (R82G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509875	NM_016010.3(ZC2HC1A):c.263T>C (p.Ile88Thr)	IL7, ZC2HC1A (I88T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464974	NM_016010.3(ZC2HC1A):c.328C>T (p.Pro110Ser)	IL7, ZC2HC1A (P110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672195	NM_016010.3(ZC2HC1A):c.382A>T (p.Arg128Ter)	IL7, ZC2HC1A (R128*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2341799	NM_016010.3(ZC2HC1A):c.440G>A (p.Arg147His)	IL7, ZC2HC1A (R147H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192227	NM_016010.3(ZC2HC1A):c.446G>C (p.Ser149Thr)	IL7, ZC2HC1A (S149T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215861	NM_016010.3(ZC2HC1A):c.473C>T (p.Thr158Ile)	IL7, ZC2HC1A (T158I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372000	NM_016010.3(ZC2HC1A):c.494G>A (p.Arg165Gln)	IL7, ZC2HC1A (R165Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605509	NM_016010.3(ZC2HC1A):c.502G>C (p.Val168Leu)	IL7, ZC2HC1A (V168L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509286	NM_016010.3(ZC2HC1A):c.517G>A (p.Ala173Thr)	IL7, ZC2HC1A (A173T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364394	NM_016010.3(ZC2HC1A):c.566G>A (p.Arg189Gln)	IL7, ZC2HC1A (R189Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592974	NM_016010.3(ZC2HC1A):c.581G>A (p.Ser194Asn)	IL7, ZC2HC1A (S194N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463392	NM_016010.3(ZC2HC1A):c.586G>A (p.Ala196Thr)	IL7, ZC2HC1A (A196T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2612204	NM_016010.3(ZC2HC1A):c.587C>A (p.Ala196Asp)	IL7, ZC2HC1A (A196D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658671	NM_016010.3(ZC2HC1A):c.605-5A>G	IL7, ZC2HC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527445	GRCh37/hg19 8q21.12(chr8:79330266-79737771)	IL7, PKIA +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527443	GRCh37/hg19 8q21.11-21.13(chr8:75338205-80221568)	CRISPLD1, HNF4G +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527442	GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)	CRISPLD1, GDAP1 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1341980	GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1	CA1, CA13 +31 more	Copy number loss	Chromosome 8q21.11 deletion syndrome	GPathogenic
Select item 979240	GRCh37/hg19 8q21.12(chr8:79304812-79737771)x3	IL7, PKIA +1 more	Copy number gain	not provided	GUncertain significance
Select item 815138	GRCh37/hg19 8q21.12(chr8:78334678-79630577)x1	PKIA, ZC2HC1A	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 685310	GRCh37/hg19 8q21.12(chr8:78336844-79630577)x1	PKIA, ZC2HC1A	Copy number loss	not provided	GUncertain significance
Select item 563542	GRCh37/hg19 8q21.11-21.13(chr8:74942333-80413867)x1	IL7, ZFHX4 +8 more	Copy number loss	not provided	GPathogenic
Select item 443624	GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1	CHMP4C, FABP12 +20 more	Copy number loss	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic

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Items: 60