CER1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2367090	NM_005454.3(CER1):c.732G>C (p.Lys244Asn)	CER1 (K244N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467739	NM_005454.3(CER1):c.596C>T (p.Ala199Val)	CER1 (A199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548003	NM_005454.3(CER1):c.557G>A (p.Cys186Tyr)	CER1 (C186Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143115	NM_005454.3(CER1):c.380G>A (p.Arg127Gln)	CER1 (R127Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539092	NM_005454.3(CER1):c.343C>T (p.Pro115Ser)	CER1 (P115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143114	NM_005454.3(CER1):c.292A>G (p.Arg98Gly)	CER1 (R98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143113	NM_005454.3(CER1):c.200G>A (p.Ser67Asn)	CER1 (S67N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374571	NM_005454.3(CER1):c.186C>A (p.His62Gln)	CER1 (H62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325855	NM_005454.3(CER1):c.175G>A (p.Ala59Thr)	CER1 (A59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659080	NM_005454.3(CER1):c.174C>T (p.Val58=)	CER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257992	NM_005454.3(CER1):c.134G>A (p.Gly45Asp)	CER1 (G45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253968	NM_005454.3(CER1):c.131C>T (p.Thr44Ile)	CER1 (T44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469287	NM_005454.3(CER1):c.113A>G (p.Asn38Ser)	CER1 (N38S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143112	NM_005454.3(CER1):c.107C>G (p.Pro36Arg)	CER1 (P36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143116	NM_005454.3(CER1):c.97G>A (p.Val33Ile)	CER1 (V33I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366146	NM_005454.3(CER1):c.71G>A (p.Arg24His)	CER1 (R24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance