79088[Gene ID] - ClinVar

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

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ACTL9, ADAMTS10 +132 more	Duplication	Autism	GLikely pathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 2474000	NM_024106.3(ZNF426):c.1634G>A (p.Arg545His)	ZNF426 (R434H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529174	NM_024106.3(ZNF426):c.1633C>T (p.Arg545Cys)	ZNF426 (R545C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357983	NM_024106.3(ZNF426):c.1541C>T (p.Thr514Met)	ZNF426 (T403M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297869	NM_024106.3(ZNF426):c.1514A>C (p.Glu505Ala)	ZNF426 (E394A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409888	NM_024106.3(ZNF426):c.1431G>C (p.Glu477Asp)	ZNF426 (E439D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227422	NM_024106.3(ZNF426):c.1409A>G (p.His470Arg)	ZNF426 (H359R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195674	NM_024106.3(ZNF426):c.1405A>T (p.Ile469Phe)	ZNF426 (I469F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324716	NM_024106.3(ZNF426):c.1366G>C (p.Ala456Pro)	ZNF426 (A418P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245845	NM_024106.3(ZNF426):c.1346C>T (p.Thr449Ile)	ZNF426 (T449I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267989	NM_024106.3(ZNF426):c.1295C>A (p.Pro432His)	ZNF426 (P321H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287567	NM_024106.3(ZNF426):c.1264T>C (p.Cys422Arg)	ZNF426 (C384R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488755	NM_024106.3(ZNF426):c.1187A>G (p.Glu396Gly)	ZNF426 (E285G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215546	NM_024106.3(ZNF426):c.1133G>A (p.Arg378His)	ZNF426 (R340H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195673	NM_024106.3(ZNF426):c.1072C>T (p.His358Tyr)	ZNF426 (H358Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540665	NM_024106.3(ZNF426):c.1058T>C (p.Met353Thr)	ZNF426 (M353T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463906	NM_024106.3(ZNF426):c.1037C>G (p.Thr346Ser)	ZNF426 (T346S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310160	NM_024106.3(ZNF426):c.976C>T (p.His326Tyr)	ZNF426 (H326Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195681	NM_024106.3(ZNF426):c.953A>G (p.Asn318Ser)	ZNF426 (N207S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195680	NM_024106.3(ZNF426):c.868A>G (p.Arg290Gly)	ZNF426 (R252G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195679	NM_024106.3(ZNF426):c.680G>C (p.Ser227Thr)	ZNF426 (S116T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195678	NM_024106.3(ZNF426):c.659A>G (p.Gln220Arg)	ZNF426 (Q109R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195677	NM_024106.3(ZNF426):c.575C>T (p.Thr192Ile)	ZNF426 (T192I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527237	NM_024106.3(ZNF426):c.511G>A (p.Gly171Arg)	ZNF426 (G171R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287351	NM_024106.3(ZNF426):c.509C>T (p.Thr170Ile)	ZNF426 (T132I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216002	NM_024106.3(ZNF426):c.488C>T (p.Thr163Met)	ZNF426 (T52M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2239915	NM_024106.3(ZNF426):c.400A>G (p.Ile134Val)	ZNF426 (I134V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195676	NM_024106.3(ZNF426):c.387G>C (p.Gln129His)	ZNF426 (Q18H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463915	NM_024106.3(ZNF426):c.358A>G (p.Ile120Val)	ZNF426 (I82V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195675	NM_024106.3(ZNF426):c.338G>A (p.Arg113Gln)	ZNF426 (R2Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2480350	NM_024106.3(ZNF426):c.298A>G (p.Arg100Gly)	ZNF426 (R100G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407699	NM_024106.3(ZNF426):c.140T>G (p.Val47Gly)	ZNF426 (V47G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364278	NM_024106.3(ZNF426):c.49G>C (p.Val17Leu)	ZNF426 (V17L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
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 221397	GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1	ACTL9, ADAMTS10 +28 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221349	Single allele	COL5A3, FBXL12 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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: 41