ClinVar for Gene (Select 7710) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3194104	NM_001085384.3(ZNF154):c.979A>G (p.Arg327Gly)	ZNF154 (R327G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194103	NM_001085384.3(ZNF154):c.713T>G (p.Val238Gly)	ZNF154 (V238G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194102	NM_001085384.3(ZNF154):c.66C>G (p.His22Gln)	ZNF154 (H22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194101	NM_001085384.3(ZNF154):c.572G>A (p.Cys191Tyr)	ZNF154 (C191Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194100	NM_001085384.3(ZNF154):c.38C>T (p.Thr13Ile)	ZNF154 (T13I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194099	NM_001085384.3(ZNF154):c.382A>G (p.Arg128Gly)	ZNF154 (R128G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194098	NM_001085384.3(ZNF154):c.239G>A (p.Cys80Tyr)	ZNF154 (C80Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194097	NM_001085384.3(ZNF154):c.220G>C (p.Ala74Pro)	ZNF154 (A74P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194096	NM_001085384.3(ZNF154):c.200T>C (p.Phe67Ser)	ZNF154 (F67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194095	NM_001085384.3(ZNF154):c.1055C>A (p.Thr352Asn)	ZNF154 (T352N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684896	GRCh37/hg19 19q13.43(chr19:58186264-58449066)x3	ZNF154, ZNF417 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684895	GRCh37/hg19 19q13.43(chr19:58034484-58421498)x3	ZIK1, ZNF134 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2610294	NM_001085384.3(ZNF154):c.163G>A (p.Val55Ile)	ZNF154 (V55I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608387	NM_001085384.3(ZNF154):c.305T>C (p.Leu102Ser)	ZNF154 (L102S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492980	NM_001085384.3(ZNF154):c.764G>A (p.Ser255Asn)	ZNF154 (S255N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2389016	NM_001085384.3(ZNF154):c.142G>A (p.Ala48Thr)	ZNF154 (A48T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373801	NM_001085384.3(ZNF154):c.364G>A (p.Gly122Ser)	ZNF154 (G122S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369531	NM_001085384.3(ZNF154):c.415A>G (p.Thr139Ala)	ZNF154 (T139A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361469	NM_001085384.3(ZNF154):c.707G>A (p.Arg236Gln)	ZNF154 (R236Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353347	NM_001085384.3(ZNF154):c.1042C>T (p.Arg348Trp)	ZNF154 (R348W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345310	NM_001085384.3(ZNF154):c.1043G>A (p.Arg348Gln)	ZNF154 (R348Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274484	NM_001085384.3(ZNF154):c.88C>G (p.Leu30Val)	ZNF154 (L30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273700	NM_001085384.3(ZNF154):c.904G>A (p.Glu302Lys)	ZNF154 (E302K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269823	NM_001085384.3(ZNF154):c.833G>A (p.Cys278Tyr)	ZNF154 (C278Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261213	NM_001085384.3(ZNF154):c.1232A>G (p.Lys411Arg)	ZNF154 (K411R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2238642	NM_001085384.3(ZNF154):c.1262C>T (p.Ser421Phe)	ZNF154 (S421F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237987	NM_001085384.3(ZNF154):c.745G>C (p.Glu249Gln)	ZNF154 (E249Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225749	NM_001085384.3(ZNF154):c.1161C>G (p.Cys387Trp)	ZNF154 (C387W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215645	NM_001085384.3(ZNF154):c.742A>G (p.Ser248Gly)	ZNF154 (S248G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1340119	GRCh37/hg19 19q13.43(chr19:58026985-58255427)x3	ZIK1, ZNF134 +9 more	Copy number gain	not provided	GLikely benign
Select item 688389	GRCh37/hg19 19q13.43(chr19:58092045-58686148)x3	C19orf18, ZIK1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 688241	GRCh37/hg19 19q13.43(chr19:58054819-58410552)x3	ZIK1, ZNF134 +14 more	Copy number gain	not provided	GUncertain significance
Select item 685397	GRCh37/hg19 19q13.43(chr19:57952073-58661581)x3	C19orf18, VN1R1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564595	GRCh37/hg19 19q13.43(chr19:57891243-58536930)x3	ZNF814, ZSCAN4 +27 more	Copy number gain	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 441564	GRCh37/hg19 19q13.43(chr19:58026984-58246176)x1	ZIK1, ZNF134 +9 more	Copy number loss	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 152853	GRCh38/hg38 19q13.43(chr19:57546443-57889946)x3	LOC125384550, LOC126862946 +37 more	Copy number gain	See cases	GUncertain significance
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 58806	GRCh38/hg38 19q13.43(chr19:57674103-57871262)x3	LOC125384550, LOC126862947 +20 more	Copy number gain	See cases	GUncertain significance
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 53