55659[Gene ID] - ClinVar

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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

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Items: 52