ClinVar for Gene (Select 7712) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3194122	NM_003446.4(ZNF157):c.87C>A (p.Phe29Leu)	ZNF157 (F29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194120	NM_003446.4(ZNF157):c.551A>G (p.His184Arg)	ZNF157 (H184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194119	NM_003446.4(ZNF157):c.407A>G (p.Tyr136Cys)	ZNF157 (Y136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194118	NM_003446.4(ZNF157):c.1441C>T (p.Arg481Trp)	ZNF157 (R481W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194117	NM_003446.4(ZNF157):c.1413G>T (p.Glu471Asp)	ZNF157 (E471D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194116	NM_003446.4(ZNF157):c.128G>A (p.Arg43Lys)	ZNF157 (R43K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194115	NM_003446.4(ZNF157):c.1030A>T (p.Thr344Ser)	ZNF157 (T344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684979	GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3	ARAF, CDK16 +33 more	Copy number gain	not provided	GUncertain significance
Select item 2660422	NM_003446.4(ZNF157):c.576C>T (p.Cys192=)	ZNF157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660421	NM_003446.4(ZNF157):c.208G>A (p.Val70Met)	ZNF157 (V70M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2603755	NM_003446.4(ZNF157):c.511T>C (p.Tyr171His)	ZNF157 (Y171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596482	NM_003446.4(ZNF157):c.895G>A (p.Glu299Lys)	ZNF157 (E299K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593770	NM_003446.4(ZNF157):c.1492C>T (p.Arg498Cys)	ZNF157 (R498C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588266	NM_003446.4(ZNF157):c.900A>T (p.Lys300Asn)	ZNF157 (K300N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512624	NM_003446.4(ZNF157):c.137C>G (p.Pro46Arg)	ZNF157 (P46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510153	NM_003446.4(ZNF157):c.935G>A (p.Arg312His)	ZNF157 (R312H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2496226	NM_003446.4(ZNF157):c.1208A>C (p.Glu403Ala)	ZNF157 (E403A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	GPathogenic
Select item 2427222	NC_000023.10:g.(?_46466387)_(47489243_?)del	ARAF, CDK16 +15 more	Deletion	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Neurodegeneration with brain iron accumulation 5 +2 more	GUncertain significance
Select item 2422978	NC_000023.10:g.(?_46618120)_(48549553_?)del	ARAF, CDK16 +35 more	Deletion	not provided	GPathogenic
Select item 2410978	NM_003446.4(ZNF157):c.1301G>T (p.Arg434Ile)	ZNF157 (R434I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406693	NM_003446.4(ZNF157):c.934C>T (p.Arg312Cys)	ZNF157 (R312C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380214	NM_003446.4(ZNF157):c.354T>A (p.Asp118Glu)	ZNF157 (D118E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369118	NM_003446.4(ZNF157):c.375G>T (p.Gln125His)	ZNF157 (Q125H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358526	NM_003446.4(ZNF157):c.46C>G (p.Pro16Ala)	ZNF157 (P16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317314	NM_003446.4(ZNF157):c.79G>A (p.Val27Met)	ZNF157 (V27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252565	NM_003446.4(ZNF157):c.73G>C (p.Gly25Arg)	ZNF157 (G25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248790	NM_003446.4(ZNF157):c.850C>T (p.Arg284Cys)	ZNF157 (R284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226697	NM_003446.4(ZNF157):c.1297C>T (p.Arg433Trp)	ZNF157 (R433W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225565	NM_003446.4(ZNF157):c.1442G>A (p.Arg481Gln)	ZNF157 (R481Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206986	NM_003446.4(ZNF157):c.835T>A (p.Cys279Ser)	ZNF157 (C279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1180517	GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	FAM156B, FOXP3 +109 more	Copy number gain	not provided	GPathogenic
Select item 1011944	NC_000023.10:g.(?_46696536)_(47436910_?)dup	ARAF, CDK16 +12 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979776	GRCh37/hg19 Xp11.23(chrX:46942052-47379255)x3	INE1, NDUFB11 +8 more	Copy number gain	not provided	GUncertain significance
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 785698	NM_003446.4(ZNF157):c.1158C>T (p.Tyr386=)	ZNF157	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785697	NM_003446.4(ZNF157):c.78C>T (p.Ser26=)	ZNF157	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780689	NM_003446.4(ZNF157):c.1498A>G (p.Thr500Ala)	ZNF157 (T500A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734687	NM_003446.4(ZNF157):c.314G>C (p.Cys105Ser)	ZNF157 (C105S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717146	NM_003446.4(ZNF157):c.924G>A (p.Gly308=)	ZNF157	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714914	NM_003446.4(ZNF157):c.1008G>A (p.Gly336=)	ZNF157	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +270 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685549	GRCh37/hg19 Xp11.23(chrX:47191508-47362805)x3	LINC01560, ZNF157 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ITGB1BP2, RGN +281 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625640	GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)	ARAF, CCDC120 +64 more	Copy number gain	not provided	GPathogenic
Select item 564840	GRCh37/hg19 Xp11.23(chrX:46647617-47413846)x2	UBA1, CDK16 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	ABCB7, ACE2 +415 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	ABCB7, ACE2 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ABCB7, ABCD1 +695 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	PPP1R3F, RGN +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	HDAC8, HDX +731 more	Copy number loss	See cases	GPathogenic
Select item 442436	GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2	ARAF, CDK16 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	GAGE1, GAGE12H +390 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	AP1S2, APEX2 +300 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ARSF, XAGE2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	AP1S2, APEX2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	WDR45, WNK3 +313 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	FAM133A, FAM156A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	FOXO4, FOXP3 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	TMSB4X, TNMD +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	GPKOW, PIN4 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	CT47A11, CT47A12 +818 more	Copy number loss	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	CT45A2, PIN4 +819 more	Copy number loss	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	MCTS1, MECP2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic

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