30487[HGNC] - ClinVar

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

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 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
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 2399304	NM_198542.3(ZNF773):c.85T>G (p.Trp29Gly)	ZNF773 (W29G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198233	NM_198542.3(ZNF773):c.103G>A (p.Ala35Thr)	ZNF773 (A34T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2263638	NM_198542.3(ZNF773):c.103G>T (p.Ala35Ser)	ZNF773 (A34S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601865	NM_198542.3(ZNF773):c.111G>T (p.Arg37Ser)	ZNF773 (R36S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314763	NM_198542.3(ZNF773):c.125A>G (p.Asn42Ser)	ZNF773 (N41S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206086	NM_198542.3(ZNF773):c.158C>G (p.Ser53Cys)	ZNF773 (S53C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466224	NM_198542.3(ZNF773):c.178A>G (p.Lys60Glu)	ZNF773 (K60E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198234	NM_198542.3(ZNF773):c.257T>C (p.Leu86Pro)	ZNF773 (L85P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2287219	NM_198542.3(ZNF773):c.274G>C (p.Gly92Arg)	ZNF773 (K89N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198235	NM_198542.3(ZNF773):c.289G>A (p.Ala97Thr)	ZNF773 (A97T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411395	NM_198542.3(ZNF773):c.308C>T (p.Ala103Val)	ZNF773 (L101F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265860	NM_198542.3(ZNF773):c.319G>A (p.Val107Met)	ZNF773 (V106M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345515	NM_198542.3(ZNF773):c.320T>C (p.Val107Ala)	ZNF773 (V107A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198236	NM_198542.3(ZNF773):c.334G>A (p.Val112Ile)	ZNF773 (V112I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198237	NM_198542.3(ZNF773):c.355C>T (p.His119Tyr)	ZNF773 (H118Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198238	NM_198542.3(ZNF773):c.385G>A (p.Glu129Lys)	ZNF773 (E129K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2466225	NM_198542.3(ZNF773):c.385G>C (p.Glu129Gln)	ZNF773 (E128Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338267	NM_198542.3(ZNF773):c.406A>T (p.Arg136Trp)	ZNF773 (R135W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198239	NM_198542.3(ZNF773):c.422A>G (p.His141Arg)	ZNF773 (H140R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2485244	NM_198542.3(ZNF773):c.481G>T (p.Gly161Cys)	ZNF773 (G160C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2508612	NM_198542.3(ZNF773):c.514G>C (p.Glu172Gln)	ZNF773 (E172Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537010	NM_198542.3(ZNF773):c.544G>C (p.Glu182Gln)	ZNF773 (E181Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2545946	NM_198542.3(ZNF773):c.550T>C (p.Phe184Leu)	ZNF773 (F184L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541465	NM_198542.3(ZNF773):c.566G>A (p.Arg189Lys)	ZNF773 (R189K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198240	NM_198542.3(ZNF773):c.715A>G (p.Ile239Val)	ZNF773 (I238V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603600	NM_198542.3(ZNF773):c.736C>T (p.Pro246Ser)	ZNF773 (P246S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198241	NM_198542.3(ZNF773):c.802G>C (p.Val268Leu)	ZNF773 (V267L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251181	NM_198542.3(ZNF773):c.814G>A (p.Glu272Lys)	ZNF773 (E272K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209736	NM_198542.3(ZNF773):c.820C>T (p.Pro274Ser)	ZNF773 (P273S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522464	NM_198542.3(ZNF773):c.829T>C (p.Cys277Arg)	ZNF773 (C277R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278918	NM_198542.3(ZNF773):c.967A>G (p.Arg323Gly)	ZNF773 (R323G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595319	NM_198542.3(ZNF773):c.1025A>G (p.His342Arg)	ZNF773 (H342R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2381895	NM_198542.3(ZNF773):c.1091G>A (p.Cys364Tyr)	ZNF773 (C364Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399420	NM_198542.3(ZNF773):c.1133G>A (p.Arg378Gln)	ZNF773 (R377Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2591377	NM_198542.3(ZNF773):c.1185C>G (p.Phe395Leu)	ZNF773 (F395L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590577	NM_198542.3(ZNF773):c.1300C>G (p.Arg434Gly)	ZNF773 (R434G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 564590	GRCh37/hg19 19q13.43(chr19:57718739-58058739)x1	VN1R1, AURKC +14 more	Copy number loss	not provided	GUncertain significance
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)	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 394524	GRCh37/hg19 19q13.43(chr19:57988849-58015974)x3	ZNF419, ZNF772 +1 more	Copy number gain	See cases	Gconflicting data from submitters
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: 57