ClinVar for Gene (Select 23264) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334112	NM_017590.6(ZC3H7B):c.1426A>G (p.Thr476Ala)	ZC3H7B (T476A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334111	NM_017590.6(ZC3H7B):c.2306G>T (p.Cys769Phe)	ZC3H7B (C769F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334110	NM_017590.6(ZC3H7B):c.1258G>A (p.Glu420Lys)	ZC3H7B (E420K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3192446	NM_017590.6(ZC3H7B):c.473A>G (p.Glu158Gly)	ZC3H7B (E158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192445	NM_017590.6(ZC3H7B):c.45G>T (p.Gln15His)	ZC3H7B (Q15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192444	NM_017590.6(ZC3H7B):c.392G>A (p.Arg131His)	ZC3H7B (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192443	NM_017590.6(ZC3H7B):c.2870G>A (p.Gly957Glu)	ZC3H7B (G957E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192442	NM_017590.6(ZC3H7B):c.2704C>G (p.Pro902Ala)	ZC3H7B (P902A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192441	NM_017590.6(ZC3H7B):c.2669G>A (p.Arg890Gln)	ZC3H7B (R890Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192440	NM_017590.6(ZC3H7B):c.265G>T (p.Ala89Ser)	ZC3H7B (A89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192439	NM_017590.6(ZC3H7B):c.2622C>A (p.Asp874Glu)	ZC3H7B (D874E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192438	NM_017590.6(ZC3H7B):c.2507C>T (p.Ala836Val)	ZC3H7B (A836V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192437	NM_017590.6(ZC3H7B):c.2252G>A (p.Arg751His)	ZC3H7B (R751H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192436	NM_017590.6(ZC3H7B):c.2042C>T (p.Pro681Leu)	ZC3H7B (P681L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192435	NM_017590.6(ZC3H7B):c.1583C>T (p.Pro528Leu)	ZC3H7B (P528L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192434	NM_017590.6(ZC3H7B):c.155A>G (p.Tyr52Cys)	ZC3H7B (Y52C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192433	NM_017590.6(ZC3H7B):c.1352G>A (p.Arg451Gln)	ZC3H7B (R451Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192432	NM_017590.6(ZC3H7B):c.1192C>A (p.Pro398Thr)	ZC3H7B (P398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192431	NM_017590.6(ZC3H7B):c.1072C>T (p.Arg358Trp)	ZC3H7B (R358W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192430	NM_017590.6(ZC3H7B):c.1039G>A (p.Asp347Asn)	ZC3H7B (D347N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3062461	GRCh37/hg19 22q13.2(chr22:41430641-41815625)x1	CHADL, EP300 +5 more	Copy number loss	not specified	GPathogenic
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2653227	NM_017590.6(ZC3H7B):c.582+8C>T	ZC3H7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653226	NM_017590.6(ZC3H7B):c.216C>T (p.Asp72=)	ZC3H7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623042	NM_017590.6(ZC3H7B):c.1483A>C (p.Lys495Gln)	ZC3H7B (K495Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620201	NM_017590.6(ZC3H7B):c.1537A>G (p.Thr513Ala)	ZC3H7B (T513A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619221	NM_017590.6(ZC3H7B):c.2389G>C (p.Asp797His)	ZC3H7B (D797H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609235	NM_017590.6(ZC3H7B):c.1034C>T (p.Thr345Met)	ZC3H7B (T345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608634	NM_017590.6(ZC3H7B):c.1354G>T (p.Asp452Tyr)	ZC3H7B (D452Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601433	NM_017590.6(ZC3H7B):c.829G>C (p.Gly277Arg)	ZC3H7B (G277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555886	NM_017590.6(ZC3H7B):c.1171A>G (p.Ser391Gly)	ZC3H7B (S391G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553325	NM_017590.6(ZC3H7B):c.856A>G (p.Ser286Gly)	ZC3H7B (S286G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553003	NM_017590.6(ZC3H7B):c.1187C>T (p.Pro396Leu)	ZC3H7B (P396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543872	NM_017590.6(ZC3H7B):c.1477G>A (p.Asp493Asn)	ZC3H7B (D493N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540630	NM_017590.6(ZC3H7B):c.1839G>T (p.Gln613His)	ZC3H7B (Q613H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524307	NM_017590.6(ZC3H7B):c.2620G>A (p.Asp874Asn)	ZC3H7B (D874N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512254	NM_017590.6(ZC3H7B):c.1403G>A (p.Arg468Gln)	ZC3H7B (R468Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508559	NM_017590.6(ZC3H7B):c.2161C>T (p.Arg721Trp)	ZC3H7B (R721W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460928	NM_017590.6(ZC3H7B):c.547C>T (p.Leu183Phe)	ZC3H7B (L183F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2405477	NM_017590.6(ZC3H7B):c.1783G>A (p.Val595Ile)	ZC3H7B (V595I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354388	NM_017590.6(ZC3H7B):c.1162C>T (p.Arg388Cys)	ZC3H7B (R388C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354079	NM_017590.6(ZC3H7B):c.233G>A (p.Arg78Gln)	ZC3H7B (R78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351078	NM_017590.6(ZC3H7B):c.556G>A (p.Gly186Ser)	ZC3H7B (G186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346674	NM_017590.6(ZC3H7B):c.2136C>A (p.Asp712Glu)	ZC3H7B (D712E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337574	NM_017590.6(ZC3H7B):c.2832C>A (p.Asp944Glu)	ZC3H7B (D944E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336512	NM_017590.6(ZC3H7B):c.2624G>A (p.Ser875Asn)	ZC3H7B (S875N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316336	NM_017590.6(ZC3H7B):c.1889G>A (p.Ser630Asn)	ZC3H7B (S630N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312519	NM_017590.6(ZC3H7B):c.1579G>T (p.Asp527Tyr)	ZC3H7B (D527Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295956	NM_017590.6(ZC3H7B):c.2498C>T (p.Thr833Met)	ZC3H7B (T833M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290298	NM_017590.6(ZC3H7B):c.905T>C (p.Leu302Pro)	ZC3H7B (L302P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280998	NM_017590.6(ZC3H7B):c.2490G>C (p.Gln830His)	ZC3H7B (Q830H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268499	NM_017590.6(ZC3H7B):c.371G>A (p.Arg124His)	ZC3H7B (R124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218142	NM_017590.6(ZC3H7B):c.997G>A (p.Ala333Thr)	ZC3H7B (A333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211465	NM_017590.6(ZC3H7B):c.2411T>C (p.Met804Thr)	ZC3H7B (M804T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1339853	GRCh37/hg19 22q13.2(chr22:41742988-41946225)x3	ACO2, PHF5A +4 more	Copy number gain	not provided	Gnot provided
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 687506	GRCh37/hg19 22q13.2(chr22:41742988-41946225)x3	ACO2, PHF5A +4 more	Copy number gain	not provided	GUncertain significance
Select item 686197	GRCh37/hg19 22q13.2(chr22:41590999-41759326)x1	CHADL, L3MBTL2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	LOC130067562, LOC130067566 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 471411	NC_000022.10:g.(?_41264983)_(41729217_?)dup	RANGAP1, RBX1 +27 more	Duplication	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145112	GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3	CHADL, DNAJB7 +32 more	Copy number gain	See cases	GUncertain significance
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57233	GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3	CHADL, DNAJB7 +28 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 84