ZC3H7A[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 545184	Single allele	BCAR4, CPPED1 +85 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2303802	NM_014153.4(ZC3H7A):c.2853C>G (p.His951Gln)	ZC3H7A (H951Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472573	NM_014153.4(ZC3H7A):c.2767T>C (p.Phe923Leu)	ZC3H7A (F923L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192424	NM_014153.4(ZC3H7A):c.2630C>T (p.Ser877Phe)	ZC3H7A (S877F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485517	NM_014153.4(ZC3H7A):c.2540C>T (p.Pro847Leu)	ZC3H7A (P847L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265325	NM_014153.4(ZC3H7A):c.2521G>A (p.Gly841Arg)	ZC3H7A (G841R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230858	NM_014153.4(ZC3H7A):c.2509A>G (p.Asn837Asp)	ZC3H7A (N837D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398666	NM_014153.4(ZC3H7A):c.2438T>C (p.Met813Thr)	ZC3H7A (M813T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537348	NM_014153.4(ZC3H7A):c.2258G>A (p.Arg753His)	ZC3H7A (R753H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334105	NM_014153.4(ZC3H7A):c.2251A>G (p.Ile751Val)	ZC3H7A (I751V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259036	NM_014153.4(ZC3H7A):c.2242G>A (p.Val748Met)	ZC3H7A (V748M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367335	NM_014153.4(ZC3H7A):c.2224G>C (p.Asp742His)	ZC3H7A (D742H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313612	NM_014153.4(ZC3H7A):c.2117T>C (p.Met706Thr)	ZC3H7A (M706T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544241	NM_014153.4(ZC3H7A):c.2098A>G (p.Met700Val)	ZC3H7A (M700V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237356	NM_014153.4(ZC3H7A):c.1763A>C (p.Lys588Thr)	ZC3H7A (K588T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297610	NM_014153.4(ZC3H7A):c.1678C>T (p.Leu560Phe)	ZC3H7A (L560F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192422	NM_014153.4(ZC3H7A):c.1645G>A (p.Gly549Ser)	ZC3H7A (G549S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192421	NM_014153.4(ZC3H7A):c.1528G>A (p.Ala510Thr)	ZC3H7A (A510T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681652	NM_014153.4(ZC3H7A):c.1478G>A (p.Arg493Lys)	ZC3H7A (R493K)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3334107	NM_014153.4(ZC3H7A):c.1445T>C (p.Val482Ala)	ZC3H7A (V482A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488371	NM_014153.4(ZC3H7A):c.1429G>A (p.Gly477Ser)	ZC3H7A (G477S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327292	NM_014153.4(ZC3H7A):c.1421T>C (p.Ile474Thr)	ZC3H7A (I474T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609569	NM_014153.4(ZC3H7A):c.1390G>C (p.Ala464Pro)	ZC3H7A (A464P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192420	NM_014153.4(ZC3H7A):c.1276C>T (p.Pro426Ser)	ZC3H7A (P426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192419	NM_014153.4(ZC3H7A):c.1216G>A (p.Gly406Arg)	ZC3H7A (G406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334106	NM_014153.4(ZC3H7A):c.1115C>G (p.Ser372Cys)	LOC130058507, ZC3H7A (S372C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386977	NM_014153.4(ZC3H7A):c.1112T>C (p.Leu371Pro)	LOC130058507, ZC3H7A (L371P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192429	NM_014153.4(ZC3H7A):c.971C>T (p.Ser324Leu)	ZC3H7A (S324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334109	NM_014153.4(ZC3H7A):c.958C>G (p.Pro320Ala)	ZC3H7A (P320A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273906	NM_014153.4(ZC3H7A):c.877G>C (p.Ala293Pro)	ZC3H7A (A293P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611344	NM_014153.4(ZC3H7A):c.827A>G (p.Asp276Gly)	ZC3H7A (D276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276921	NM_014153.4(ZC3H7A):c.773C>T (p.Ala258Val)	ZC3H7A (A258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294470	NM_014153.4(ZC3H7A):c.767C>T (p.Pro256Leu)	ZC3H7A (P256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473837	NM_014153.4(ZC3H7A):c.766C>T (p.Pro256Ser)	ZC3H7A (P256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298365	NM_014153.4(ZC3H7A):c.760G>A (p.Ala254Thr)	ZC3H7A (A254T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597371	NM_014153.4(ZC3H7A):c.746A>C (p.Gln249Pro)	ZC3H7A (Q249P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371165	NM_014153.4(ZC3H7A):c.728C>G (p.Thr243Ser)	ZC3H7A (T243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192428	NM_014153.4(ZC3H7A):c.721C>A (p.Pro241Thr)	ZC3H7A (P241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259232	NM_014153.4(ZC3H7A):c.719T>C (p.Met240Thr)	ZC3H7A (M240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232479	NM_014153.4(ZC3H7A):c.689T>C (p.Val230Ala)	ZC3H7A (V230A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2482045	NM_014153.4(ZC3H7A):c.658T>C (p.Ser220Pro)	ZC3H7A (S220P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237535	NM_014153.4(ZC3H7A):c.649C>T (p.Pro217Ser)	ZC3H7A (P217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617530	NM_014153.4(ZC3H7A):c.632C>T (p.Pro211Leu)	ZC3H7A (P211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525409	NM_014153.4(ZC3H7A):c.586G>T (p.Ala196Ser)	ZC3H7A (A196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522651	NM_014153.4(ZC3H7A):c.471G>C (p.Glu157Asp)	ZC3H7A (E157D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192427	NM_014153.4(ZC3H7A):c.436G>A (p.Val146Ile)	ZC3H7A (V146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307266	NM_014153.4(ZC3H7A):c.434C>A (p.Ala145Asp)	ZC3H7A (A145D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192425	NM_014153.4(ZC3H7A):c.414A>T (p.Arg138Ser)	ZC3H7A (R138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646230	NM_014153.4(ZC3H7A):c.306+3G>A	ZC3H7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2403775	NM_014153.4(ZC3H7A):c.179A>G (p.Asn60Ser)	ZC3H7A (N60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192423	NM_014153.4(ZC3H7A):c.167A>G (p.Glu56Gly)	ZC3H7A (E56G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685557	GRCh37/hg19 16p13.13-13.12(chr16:11444572-12722447)x1	BCAR4, GSPT1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2684787	GRCh37/hg19 16p13.13(chr16:11822960-12056945)x3	BCAR4, GSPT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684785	GRCh37/hg19 16p13.13(chr16:11466110-12065032)x3	BCAR4, GSPT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526502	GRCh37/hg19 16p13.13-13.12(chr16:11364838-13592668)	SNN, SNX29 +13 more	Copy number gain	not specified	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 564270	GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3	LITAF, ZC3H7A +16 more	Copy number gain	not provided	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441858	GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3	ATF7IP2, BCAR4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 74