"Ambry Genetics"[submitter] AND "ENC1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275410	NM_003633.4(ENC1):c.1762C>T (p.Pro588Ser)	ENC1 (P515S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393216	NM_003633.4(ENC1):c.1748C>T (p.Thr583Ile)	ENC1 (T583I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275411	NM_003633.4(ENC1):c.1322G>A (p.Ser441Asn)	ENC1 (S441N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283645	NM_003633.4(ENC1):c.979C>G (p.Pro327Ala)	ENC1 (P254A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536949	NM_003633.4(ENC1):c.866G>A (p.Arg289Gln)	ENC1 (R216Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310780	NM_003633.4(ENC1):c.782A>G (p.Lys261Arg)	ENC1 (K261R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479093	NM_003633.4(ENC1):c.734A>G (p.Tyr245Cys)	ENC1 (Y172C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391520	NM_003633.4(ENC1):c.539G>C (p.Arg180Thr)	ENC1 (R107T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088831	NM_003633.4(ENC1):c.464T>A (p.Leu155Gln)	ENC1 (L155Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545521	NM_003633.4(ENC1):c.272A>G (p.Asn91Ser)	ENC1 (N18S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275409	NM_003633.4(ENC1):c.206G>A (p.Arg69His)	ENC1 (R69H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361996	NM_003633.4(ENC1):c.112C>A (p.Leu38Ile)	ENC1 (L38I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275041	NM_003633.4(ENC1):c.46G>A (p.Gly16Ser)	ENC1 (G16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance