ClinVar for Gene (Select 162968) - ClinVar

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

Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3196200	NM_198458.3(ZNF497):c.734C>T (p.Pro245Leu)	ZNF497 (P245L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196199	NM_198458.3(ZNF497):c.684C>G (p.Ser228Arg)	ZNF497 (S228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196198	NM_198458.3(ZNF497):c.571C>T (p.Arg191Cys)	ZNF497 (R191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196197	NM_198458.3(ZNF497):c.505A>G (p.Lys169Glu)	ZNF497 (K169E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196196	NM_198458.3(ZNF497):c.293C>T (p.Ser98Leu)	ZNF497 (S98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196195	NM_198458.3(ZNF497):c.229G>A (p.Ala77Thr)	ZNF497 (A77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196194	NM_198458.3(ZNF497):c.226C>A (p.Pro76Thr)	ZNF497 (P76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196193	NM_198458.3(ZNF497):c.182T>C (p.Leu61Pro)	ZNF497 (L61P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196192	NM_198458.3(ZNF497):c.1466A>G (p.Gln489Arg)	ZNF497 (Q489R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196191	NM_198458.3(ZNF497):c.118G>A (p.Ala40Thr)	ZNF497 (A40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196190	NM_198458.3(ZNF497):c.1189G>A (p.Gly397Ser)	ZNF497 (G397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196189	NM_198458.3(ZNF497):c.114G>T (p.Trp38Cys)	ZNF497 (W38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196188	NM_198458.3(ZNF497):c.1126C>T (p.His376Tyr)	ZNF497 (H376Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196187	NM_198458.3(ZNF497):c.1051G>A (p.Val351Met)	ZNF497 (V351M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622095	NM_198458.3(ZNF497):c.263G>A (p.Ser88Asn)	ZNF497 (S88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614655	NM_198458.3(ZNF497):c.220C>G (p.Leu74Val)	ZNF497 (L74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608907	NM_198458.3(ZNF497):c.232G>A (p.Asp78Asn)	ZNF497 (D78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608864	NM_198458.3(ZNF497):c.929C>G (p.Ala310Gly)	ZNF497 (A310G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539769	NM_198458.3(ZNF497):c.962A>G (p.Gln321Arg)	ZNF497 (Q321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525842	NM_198458.3(ZNF497):c.1045C>T (p.Arg349Trp)	ZNF497 (R349W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516424	NM_198458.3(ZNF497):c.641G>T (p.Gly214Val)	ZNF497 (G214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494910	NM_198458.3(ZNF497):c.93G>C (p.Glu31Asp)	ZNF497 (E31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479119	NM_198458.3(ZNF497):c.709C>T (p.Arg237Trp)	ZNF497 (R237W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479118	NM_198458.3(ZNF497):c.637A>G (p.Thr213Ala)	ZNF497 (T213A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393252	NM_198458.3(ZNF497):c.143C>T (p.Pro48Leu)	ZNF497 (P48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392297	NM_198458.3(ZNF497):c.604A>G (p.Ser202Gly)	ZNF497 (S202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383314	NM_198458.3(ZNF497):c.722C>T (p.Thr241Met)	ZNF497 (T241M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370986	NM_198458.3(ZNF497):c.181C>G (p.Leu61Val)	ZNF497 (L61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355972	NM_198458.3(ZNF497):c.578C>T (p.Pro193Leu)	ZNF497 (P193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353099	NM_198458.3(ZNF497):c.1226C>A (p.Thr409Lys)	ZNF497 (T409K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347180	NM_198458.3(ZNF497):c.817C>A (p.Pro273Thr)	ZNF497 (P273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341920	NM_198458.3(ZNF497):c.1476C>A (p.His492Gln)	ZNF497 (H492Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338774	NM_198458.3(ZNF497):c.1246T>A (p.Cys416Ser)	ZNF497 (C416S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318079	NM_198458.3(ZNF497):c.1085A>G (p.Gln362Arg)	ZNF497 (Q362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311640	NM_198458.3(ZNF497):c.323G>C (p.Cys108Ser)	ZNF497 (C108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309573	NM_198458.3(ZNF497):c.1435T>C (p.Phe479Leu)	ZNF497 (F479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301521	NM_198458.3(ZNF497):c.334G>A (p.Gly112Ser)	ZNF497 (G112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298688	NM_198458.3(ZNF497):c.997G>T (p.Ala333Ser)	ZNF497 (A333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268458	NM_198458.3(ZNF497):c.1427G>T (p.Gly476Val)	ZNF497 (G476V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238917	NM_198458.3(ZNF497):c.1382G>A (p.Arg461Gln)	ZNF497 (R461Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228387	NM_198458.3(ZNF497):c.1318A>G (p.Arg440Gly)	ZNF497 (R440G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221449	NM_198458.3(ZNF497):c.264C>G (p.Ser88Arg)	ZNF497 (S88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979556	GRCh37/hg19 19q13.43(chr19:58687912-58946147)x3	ZNF132, A1BG +8 more	Copy number gain	not provided	GUncertain significance
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 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 253827	GRCh37/hg19 19q13.43(chr19:58458999-58929684)x3	ZNF329, ZNF135 +14 more	Copy number gain	See cases	GUncertain significance
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 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 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 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

Links from Gene

Items: 59