ClinVar for Gene (Select 79603) - ClinVar

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

Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266336	NM_024552.3(CERS4):c.830T>G (p.Leu277Arg)	CERS4 (L277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266335	NM_024552.3(CERS4):c.1090A>C (p.Asn364His)	CERS4 (N364H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266334	NM_024552.3(CERS4):c.175T>A (p.Phe59Ile)	CERS4 (F59I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266333	NM_024552.3(CERS4):c.119T>C (p.Leu40Ser)	CERS4 (L40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266332	NM_024552.3(CERS4):c.83G>A (p.Arg28Gln)	CERS4 (R28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143171	NM_024552.3(CERS4):c.911T>C (p.Phe304Ser)	CERS4 (F304S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143170	NM_024552.3(CERS4):c.879C>G (p.Ile293Met)	CERS4 (I293M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143169	NM_024552.3(CERS4):c.763A>G (p.Met255Val)	CERS4 (M255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143168	NM_024552.3(CERS4):c.692T>C (p.Ile231Thr)	CERS4 (I231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143167	NM_024552.3(CERS4):c.550C>G (p.Leu184Val)	CERS4 (L184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143166	NM_024552.3(CERS4):c.445G>A (p.Gly149Ser)	CERS4 (G149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143165	NM_024552.3(CERS4):c.269C>T (p.Thr90Met)	CERS4 (T90M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143164	NM_024552.3(CERS4):c.1117G>A (p.Ala373Thr)	CERS4 (A373T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649194	NM_024552.3(CERS4):c.1086A>G (p.Leu362=)	CERS4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649193	NM_024552.3(CERS4):c.132C>T (p.Pro44=)	CERS4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2553398	NM_024552.3(CERS4):c.91C>T (p.Arg31Cys)	CERS4 (R31C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548405	NM_024552.3(CERS4):c.766C>G (p.Gln256Glu)	CERS4 (Q256E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540802	NM_024552.3(CERS4):c.97T>A (p.Tyr33Asn)	CERS4 (Y33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533921	NM_024552.3(CERS4):c.1012A>G (p.Lys338Glu)	CERS4 (K338E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 2407145	NM_024552.3(CERS4):c.688C>T (p.Arg230Cys)	CERS4 (R230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401488	NM_024552.3(CERS4):c.329C>T (p.Thr110Met)	CERS4 (T110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393985	NM_024552.3(CERS4):c.1150G>A (p.Gly384Arg)	CERS4 (G384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356373	NM_024552.3(CERS4):c.92G>A (p.Arg31His)	CERS4 (R31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339237	NM_024552.3(CERS4):c.362G>A (p.Arg121His)	CERS4 (R121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331601	NM_024552.3(CERS4):c.1093G>C (p.Gly365Arg)	CERS4 (G365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318164	NM_024552.3(CERS4):c.1089G>T (p.Lys363Asn)	CERS4 (K363N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285140	NM_024552.3(CERS4):c.530C>G (p.Pro177Arg)	CERS4 (P177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283323	NM_024552.3(CERS4):c.1049G>A (p.Ser350Asn)	CERS4 (S350N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260920	NM_024552.3(CERS4):c.784G>A (p.Asp262Asn)	CERS4 (D262N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260711	NM_024552.3(CERS4):c.818T>C (p.Phe273Ser)	CERS4 (F273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232417	NM_024552.3(CERS4):c.627G>T (p.Gln209His)	CERS4 (Q209H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232416	NM_024552.3(CERS4):c.623A>T (p.Glu208Val)	CERS4 (E208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226051	NM_024552.3(CERS4):c.1153C>T (p.Arg385Cys)	CERS4 (R385C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214049	NM_024552.3(CERS4):c.593C>G (p.Pro198Arg)	CERS4 (P198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	CCL25, MCOLN1 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 770654	NM_024552.3(CERS4):c.580C>T (p.Leu194=)	CERS4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745004	NM_024552.3(CERS4):c.244G>A (p.Ala82Thr)	CERS4 (A82T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
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 151483	GRCh38/hg38 19p13.2(chr19:8078715-8308568)x3	CD320, CERS4 +12 more	Copy number gain	See cases	GBenign
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 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: 45