CERS5[gene] - ClinVar

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

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 58211	GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3	AQP2, AQP5 +43 more	Copy number gain	See cases	GUncertain significance
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +206 more	Copy number loss	See cases	GPathogenic
Select item 2207991	NM_147190.5(CERS5):c.1162T>C (p.Tyr388His)	CERS5 (Y388H +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2541751	NM_147190.5(CERS5):c.1129G>A (p.Ala377Thr)	CERS5 (A319T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2406460	NM_147190.5(CERS5):c.1012G>T (p.Ala338Ser)	CERS5 (A194S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229748	NM_147190.5(CERS5):c.884C>T (p.Thr295Met)	CERS5 (T151M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293027	NM_147190.5(CERS5):c.814C>T (p.Leu272Phe)	CERS5 (L214F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394067	NM_147190.5(CERS5):c.792G>T (p.Lys264Asn)	CERS5 (K206N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259385	NM_147190.5(CERS5):c.464T>G (p.Phe155Cys)	CERS5 (F11C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599868	NM_147190.5(CERS5):c.409A>G (p.Thr137Ala)	CERS5 (T137A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2407643	NM_147190.5(CERS5):c.364A>C (p.Ile122Leu)	CERS5 (I122L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2232678	NM_147190.5(CERS5):c.289A>C (p.Ile97Leu)	CERS5 (I39L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2254865	NM_147190.5(CERS5):c.282G>T (p.Lys94Asn)	CERS5 (K36N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2620216	NM_147190.5(CERS5):c.237G>T (p.Glu79Asp)	CERS5 (E21D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2596867	NM_147190.5(CERS5):c.235G>A (p.Glu79Lys)	CERS5 (E21K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 768542	NM_147190.5(CERS5):c.162G>A (p.Ala54=)	CERS5, LOC130007879	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2369198	NM_147190.5(CERS5):c.94C>G (p.Leu32Val)	CERS5 (L32V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1048828	NM_147190.5(CERS5):c.35T>C (p.Leu12Pro)	CERS5, LOC130007880 (L12P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 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: 23