"Ambry Genetics"[submitter] AND "CLEC1A"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2278074	NM_016511.4(CLEC1A):c.827T>C (p.Leu276Ser)	CLEC1A (L188S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394335	NM_016511.4(CLEC1A):c.761G>A (p.Arg254His)	CLEC1A (R221H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542412	NM_016511.4(CLEC1A):c.692C>T (p.Pro231Leu)	CLEC1A (P143L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325428	NM_016511.4(CLEC1A):c.549T>G (p.Phe183Leu)	CLEC1A (F91L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370821	NM_016511.4(CLEC1A):c.481T>A (p.Cys161Ser)	CLEC1A (C161S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145633	NM_016511.4(CLEC1A):c.376T>C (p.Tyr126His)	CLEC1A (Y93H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277561	NM_016511.4(CLEC1A):c.268G>C (p.Glu90Gln)	CLEC1A (E2Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621454	NM_016511.4(CLEC1A):c.178G>T (p.Val60Leu)	CLEC1A (V60L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2460665	NM_016511.4(CLEC1A):c.178G>A (p.Val60Met)	CLEC1A (V60M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2594625	NM_016511.4(CLEC1A):c.171G>C (p.Leu57Phe)	CLEC1A (L57F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2461534	NM_016511.4(CLEC1A):c.124G>A (p.Ala42Thr)	CLEC1A (A42T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2205141	NM_016511.4(CLEC1A):c.95A>G (p.His32Arg)	CLEC1A (H32R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2393285	NM_016511.4(CLEC1A):c.91C>T (p.Arg31Trp)	CLEC1A (R31W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220919	NM_016511.4(CLEC1A):c.52A>G (p.Thr18Ala)	CLEC1A (T18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145634	NM_016511.4(CLEC1A):c.49G>T (p.Asp17Tyr)	CLEC1A (D17Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283676	NM_016511.4(CLEC1A):c.30C>G (p.Asp10Glu)	CLEC1A (D10E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398888	NM_016511.4(CLEC1A):c.16A>G (p.Ser6Gly)	CLEC1A (S6G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance