ClinVar for Gene (Select 55422) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335490	NM_001079906.2(ZNF331):c.218A>G (p.Asp73Gly)	ZNF331 (D73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335489	NM_001079906.2(ZNF331):c.281G>A (p.Arg94His)	ZNF331 (R94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195194	NM_001079906.2(ZNF331):c.982G>A (p.Glu328Lys)	LOC126862930, ZNF331 (E328K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195193	NM_001079906.2(ZNF331):c.944C>T (p.Thr315Ile)	LOC126862930, ZNF331 (T315I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195192	NM_001079906.2(ZNF331):c.918G>C (p.Lys306Asn)	LOC126862930, ZNF331 (K306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195191	NM_001079906.2(ZNF331):c.562G>A (p.Glu188Lys)	LOC126862930, ZNF331 (E188K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195190	NM_001079906.2(ZNF331):c.515A>G (p.Asn172Ser)	LOC126862930, ZNF331 (N172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195189	NM_001079906.2(ZNF331):c.1267G>A (p.Gly423Ser)	LOC126862930, ZNF331 (G423S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691771	Single allele	DPRX, LOC126862930 +1 more	Deletion	ZNF331 deletion	GUncertain significance
Select item 2684893	GRCh37/hg19 19q13.42(chr19:53963333-54421591)x3	CACNG7, DPRX +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2620684	NM_001079906.2(ZNF331):c.614A>G (p.His205Arg)	LOC126862930, ZNF331 (H205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540862	NM_001079906.2(ZNF331):c.730G>A (p.Glu244Lys)	LOC126862930, ZNF331 (E244K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518676	NM_001079906.2(ZNF331):c.37A>G (p.Ile13Val)	ZNF331 (I13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399952	NM_001079906.2(ZNF331):c.47C>G (p.Ser16Cys)	ZNF331 (S16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389289	NM_001079906.2(ZNF331):c.209G>A (p.Arg70Lys)	ZNF331 (R70K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375009	NM_001079906.2(ZNF331):c.1256G>A (p.Ser419Asn)	LOC126862930, ZNF331 (S419N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374917	NM_001079906.2(ZNF331):c.250A>G (p.Ile84Val)	ZNF331 (I84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309294	NM_001079906.2(ZNF331):c.1387A>G (p.Ser463Gly)	LOC126862930, ZNF331 (S463G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303888	NM_001079906.2(ZNF331):c.478G>C (p.Glu160Gln)	LOC126862930, ZNF331 (E160Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302712	NM_001079906.2(ZNF331):c.1043T>C (p.Ile348Thr)	LOC126862930, ZNF331 (I348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261807	NM_001079906.2(ZNF331):c.296A>T (p.Tyr99Phe)	LOC126862930, ZNF331 (Y99F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240220	NM_001079906.2(ZNF331):c.935A>G (p.Asn312Ser)	LOC126862930, ZNF331 (N312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 788474	NM_001079906.2(ZNF331):c.1374G>A (p.Gln458=)	LOC126862930, ZNF331	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779045	NM_001079906.2(ZNF331):c.133C>T (p.Leu45=)	ZNF331	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771042	NM_001079906.2(ZNF331):c.326A>T (p.Lys109Ile)	LOC126862930, ZNF331 (K109I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685146	GRCh37/hg19 19q13.42(chr19:54044964-54074511)x1	ZNF331	Copy number loss	not provided	GUncertain significance
Select item 599192	NC_000019.10:g.53536530_53981185dup	MIR525, MIR526A1 +61 more	Duplication	Silver Russell Syndrome-related disorder	GUncertain significance
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564589	GRCh37/hg19 19q13.42(chr19:54082504-54417191)x3	CACNG7, MIR520H +9 more	Copy number gain	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 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 253990	GRCh37/hg19 19q13.42(chr19:54056297-54327621)x3	MIR520H, MIR372 +6 more	Copy number gain	See cases	GUncertain significance
Select item 253745	GRCh37/hg19 19q13.42(chr19:54082353-54486105)x3	MIR520H, ZNF331 +10 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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +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 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	LOC130065082, LOC130065083 +806 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 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 58804	GRCh38/hg38 19q13.42(chr19:53553042-53899466)x3	DPRX, LOC121627888 +58 more	Copy number gain	See cases	GUncertain significance
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 47