ZNF416[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 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 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 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 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 152853	GRCh38/hg38 19q13.43(chr19:57546443-57889946)x3	LOC125384550, LOC126862946 +37 more	Copy number gain	See cases	GUncertain significance
Select item 2540330	NM_017879.3(ZNF416):c.1756C>T (p.Pro586Ser)	ZNF416 (P514S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318504	NM_017879.3(ZNF416):c.1709A>C (p.Lys570Thr)	ZNF416 (K570T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544481	NM_017879.3(ZNF416):c.1648T>C (p.Tyr550His)	ZNF416 (Y478H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457637	NM_017879.3(ZNF416):c.1381A>G (p.Thr461Ala)	ZNF416 (T461A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464629	NM_017879.3(ZNF416):c.1154G>A (p.Gly385Asp)	ZNF416 (G313D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515805	NM_017879.3(ZNF416):c.1085C>G (p.Ala362Gly)	ZNF416 (A362G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538135	NM_017879.3(ZNF416):c.979G>A (p.Glu327Lys)	ZNF416 (E255K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610910	NM_017879.3(ZNF416):c.866G>A (p.Arg289Gln)	ZNF416 (R217Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2621839	NM_017879.3(ZNF416):c.733A>T (p.Ser245Cys)	ZNF416 (S173C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400405	NM_017879.3(ZNF416):c.679A>C (p.Lys227Gln)	ZNF416 (K155Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370181	NM_017879.3(ZNF416):c.618G>C (p.Glu206Asp)	ZNF416 (E206D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650574	NM_017879.3(ZNF416):c.567G>A (p.Pro189=)	ZNF416	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3195612	NM_017879.3(ZNF416):c.541C>G (p.Leu181Val)	ZNF416 (L109V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380771	NM_017879.3(ZNF416):c.517A>C (p.Ser173Arg)	ZNF416 (S101R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195611	NM_017879.3(ZNF416):c.484T>C (p.Cys162Arg)	ZNF416 (C90R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614263	NM_017879.3(ZNF416):c.457A>G (p.Met153Val)	ZNF416 (M153V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236091	NM_017879.3(ZNF416):c.443C>G (p.Pro148Arg)	ZNF416 (P76R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195609	NM_017879.3(ZNF416):c.401C>T (p.Ala134Val)	ZNF416 (A134V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195608	NM_017879.3(ZNF416):c.343G>A (p.Asp115Asn)	ZNF416 (D115N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195607	NM_017879.3(ZNF416):c.310C>G (p.Gln104Glu)	ZNF416 (Q32E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404422	NM_017879.3(ZNF416):c.306G>T (p.Lys102Asn)	ZNF416 (K102N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401520	NM_017879.3(ZNF416):c.287C>T (p.Ala96Val)	ZNF416 (A24V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274772	NM_017879.3(ZNF416):c.265C>T (p.Pro89Ser)	ZNF416 (P89S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517677	NM_017879.3(ZNF416):c.226G>A (p.Glu76Lys)	ZNF416 (E4K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195606	NM_017879.3(ZNF416):c.163G>A (p.Asp55Asn)	ZNF416 (D55N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355192	NM_017879.3(ZNF416):c.62T>C (p.Met21Thr)	ZNF416 (M21T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3195610	NM_017879.3(ZNF416):c.40G>C (p.Val14Leu)	ZNF416 (V14L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2387524	NM_017879.3(ZNF416):c.29C>T (p.Thr10Ile)	LOC130065186, ZNF416 (T10I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 1340119	GRCh37/hg19 19q13.43(chr19:58026985-58255427)x3	ZIK1, ZNF134 +9 more	Copy number gain	not provided	GLikely benign
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 560059	Single allele	VN1R1, ZIK1 +12 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 52