90485[Gene ID] - ClinVar

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

Search results

Items: 73

	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 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
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 2222102	NM_001005850.3(ZNF835):c.1592C>T (p.Pro531Leu)	ZNF835 (P531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275294	NM_001005850.3(ZNF835):c.1322C>T (p.Thr441Met)	ZNF835 (T441M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198708	NM_001005850.3(ZNF835):c.1295C>T (p.Ser432Leu)	ZNF835 (S432L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411851	NM_001005850.3(ZNF835):c.1264G>A (p.Glu422Lys)	ZNF835 (E422K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595348	NM_001005850.3(ZNF835):c.1261G>C (p.Gly421Arg)	ZNF835 (G421R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381450	NM_001005850.3(ZNF835):c.1241G>T (p.Gly414Val)	ZNF835 (G414V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381425	NM_001005850.3(ZNF835):c.1240G>A (p.Gly414Arg)	ZNF835 (G414R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198707	NM_001005850.3(ZNF835):c.1204G>T (p.Val402Leu)	ZNF835 (V402L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198706	NM_001005850.3(ZNF835):c.1115G>C (p.Ser372Thr)	ZNF835 (S372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355754	NM_001005850.3(ZNF835):c.1114A>G (p.Ser372Gly)	ZNF835 (S372G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198705	NM_001005850.3(ZNF835):c.1093C>T (p.His365Tyr)	ZNF835 (H365Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346931	NM_001005850.3(ZNF835):c.1069A>G (p.Thr357Ala)	ZNF835 (T357A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272765	NM_001005850.3(ZNF835):c.1027T>G (p.Phe343Val)	ZNF835 (F343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341632	NM_001005850.3(ZNF835):c.987A>G (p.Thr329=)	ZNF835	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3259728	NM_001005850.3(ZNF835):c.973C>G (p.Arg325Gly)	ZNF835 (R325G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481261	NM_001005850.3(ZNF835):c.972C>G (p.His324Gln)	ZNF835 (H324Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259731	NM_001005850.3(ZNF835):c.923G>T (p.Cys308Phe)	ZNF835 (C308F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259730	NM_001005850.3(ZNF835):c.885G>C (p.Gln295His)	ZNF835 (Q295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495307	NM_001005850.3(ZNF835):c.883C>A (p.Gln295Lys)	ZNF835 (Q295K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198714	NM_001005850.3(ZNF835):c.841G>A (p.Gly281Ser)	ZNF835 (G281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218533	NM_001005850.3(ZNF835):c.820G>A (p.Glu274Lys)	ZNF835 (E274K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198713	NM_001005850.3(ZNF835):c.650C>T (p.Thr217Met)	ZNF835 (T217M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592388	NM_001005850.3(ZNF835):c.636C>G (p.His212Gln)	ZNF835 (H212Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379355	NM_001005850.3(ZNF835):c.617T>C (p.Val206Ala)	ZNF835 (V206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198712	NM_001005850.3(ZNF835):c.592G>T (p.Asp198Tyr)	ZNF835 (D198Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539494	NM_001005850.3(ZNF835):c.556C>A (p.Arg186Ser)	ZNF835 (R186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262236	NM_001005850.3(ZNF835):c.542T>G (p.Leu181Arg)	ZNF835 (L181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253915	NM_001005850.3(ZNF835):c.510G>C (p.Glu170Asp)	ZNF835 (E170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198711	NM_001005850.3(ZNF835):c.424G>A (p.Glu142Lys)	ZNF835 (E142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339531	NM_001005850.3(ZNF835):c.404A>C (p.Glu135Ala)	ZNF835 (E135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222938	NM_001005850.3(ZNF835):c.401G>A (p.Gly134Glu)	ZNF835 (G134E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207630	NM_001005850.3(ZNF835):c.382C>G (p.His128Asp)	ZNF835 (H128D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556044	NM_001005850.3(ZNF835):c.307G>A (p.Gly103Ser)	ZNF835 (G103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198710	NM_001005850.3(ZNF835):c.281A>G (p.His94Arg)	ZNF835 (H94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556271	NM_001005850.3(ZNF835):c.247T>C (p.Cys83Arg)	ZNF835 (C83R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513882	NM_001005850.3(ZNF835):c.229G>A (p.Asp77Asn)	ZNF835 (D77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390249	NM_001005850.3(ZNF835):c.202G>A (p.Ala68Thr)	ZNF835 (A68T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464996	NM_001005850.3(ZNF835):c.90C>A (p.Asn30Lys)	ZNF835 (N30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339976	NM_001005850.3(ZNF835):c.61G>A (p.Glu21Lys)	ZNF835 (E21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198709	NM_001005850.3(ZNF835):c.25C>A (p.Leu9Ile)	ZNF835 (L9I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252570	NM_001005850.3(ZNF835):c.22G>A (p.Ala8Thr)	ZNF835 (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409866	NM_001005850.3(ZNF835):c.7G>A (p.Gly3Arg)	ZNF835 (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
Select item 2684894	GRCh37/hg19 19q13.43(chr19:56949121-57419586)x3	PEG3, SMIM17 +8 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 1526673	GRCh37/hg19 19q13.43(chr19:57136208-57478257)	PEG3, SMIM17 +3 more	Copy number gain	not specified	GUncertain significance
Select item 816096	GRCh37/hg19 19q13.43(chr19:56788816-57277655)x3	SMIM17, ZNF71 +8 more	Copy number gain	not provided	GLikely benign
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 564598	GRCh37/hg19 19q13.43(chr19:56565455-57401997)x1	ZNF667, ZNF471 +16 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	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 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 442366	GRCh37/hg19 19q13.42-13.43(chr19:56212463-57191708)x3	GALP, NLRP11 +21 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 394098	GRCh37/hg19 19q13.43(chr19:56874577-57183789)x3	SMIM17, ZFP28 +8 more	Copy number gain	See cases	GUncertain significance
Select item 221405	GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1	NLRP5, NLRP8 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221354	chr19:56133299..57648277 complex variant	NLRP4, CCDC106 +31 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: 73