CERS5[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +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	LOC130007898, LOC130007899 +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)	not specified	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)	not specified	GUncertain significance
Select item 3143173	NM_147190.5(CERS5):c.1031T>C (p.Val344Ala)	CERS5 (V286A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 3266341	NM_147190.5(CERS5):c.903G>C (p.Trp301Cys)	CERS5 (W301C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3143183	NM_147190.5(CERS5):c.800G>A (p.Arg267Gln)	CERS5 (R123Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3143181	NM_147190.5(CERS5):c.713G>A (p.Arg238Gln)	CERS5 (R94Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143180	NM_147190.5(CERS5):c.697A>C (p.Ile233Leu)	CERS5 (I89L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266337	NM_147190.5(CERS5):c.684C>G (p.Ile228Met)	CERS5 (I170M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266340	NM_147190.5(CERS5):c.615G>C (p.Gln205His)	CERS5 (Q205H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143179	NM_147190.5(CERS5):c.596G>C (p.Trp199Ser)	CERS5 (W141S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143178	NM_147190.5(CERS5):c.507G>C (p.Trp169Cys)	CERS5 (W111C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3143177	NM_147190.5(CERS5):c.329G>T (p.Gly110Val)	CERS5 (G52V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3143176	NM_147190.5(CERS5):c.199T>C (p.Phe67Leu)	CERS5 (F67L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 3143175	NM_147190.5(CERS5):c.139A>G (p.Ile47Val)	CERS5 (I47V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143172	NM_147190.5(CERS5):c.101G>A (p.Gly34Glu)	CERS5 (G34E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2369198	NM_147190.5(CERS5):c.94C>G (p.Leu32Val)	CERS5 (L32V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143182	NM_147190.5(CERS5):c.75G>C (p.Glu25Asp)	CERS5 (E25D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	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 specified	GUncertain significance
Select item 3266339	NM_147190.5(CERS5):c.4G>A (p.Ala2Thr)	CERS5, LOC130007880 (A2T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +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	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 38