SIGLEC7[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2231738	NM_014385.4(SIGLEC7):c.128A>C (p.His43Pro)	SIGLEC7 (H43P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162215	NM_014385.4(SIGLEC7):c.134G>A (p.Arg45His)	SIGLEC7 (R45H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496369	NM_014385.4(SIGLEC7):c.146C>G (p.Ser49Cys)	SIGLEC7 (S49C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369456	NM_014385.4(SIGLEC7):c.275G>A (p.Arg92Gln)	SIGLEC7 (R92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205610	NM_014385.4(SIGLEC7):c.289C>T (p.Leu97Phe)	SIGLEC7 (L97F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410038	NM_014385.4(SIGLEC7):c.353C>T (p.Ala118Val)	SIGLEC7 (A118V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281345	NM_014385.4(SIGLEC7):c.427G>A (p.Val143Met)	SIGLEC7 (V143M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558788	NM_014385.4(SIGLEC7):c.494A>G (p.Asn165Ser)	SIGLEC7 (N165S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532180	NM_014385.4(SIGLEC7):c.508G>A (p.Val170Met)	SIGLEC7 (V170M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461155	NM_014385.4(SIGLEC7):c.529G>A (p.Gly177Arg)	SIGLEC7 (G177R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358194	NM_014385.4(SIGLEC7):c.533C>T (p.Thr178Met)	SIGLEC7 (T178M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777506	NM_014385.4(SIGLEC7):c.541A>G (p.Met181Val)	SIGLEC7 (M181V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3318510	NM_014385.4(SIGLEC7):c.565G>T (p.Val189Leu)	SIGLEC7 (V189L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392844	NM_014385.4(SIGLEC7):c.592C>T (p.Arg198Cys)	SIGLEC7 (R198C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2350000	NM_014385.4(SIGLEC7):c.630C>G (p.His210Gln)	SIGLEC7 (H210Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318509	NM_014385.4(SIGLEC7):c.668G>A (p.Gly223Glu)	SIGLEC7 (G223E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512885	NM_014385.4(SIGLEC7):c.696C>G (p.Ile232Met)	SIGLEC7 (I232M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236551	NM_014385.4(SIGLEC7):c.805G>C (p.Gly269Arg)	SIGLEC7 (G269R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318508	NM_014385.4(SIGLEC7):c.962G>A (p.Arg321Gln)	SIGLEC7 (R321Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162210	NM_014385.4(SIGLEC7):c.1035G>A (p.Met345Ile)	SIGLEC7 (M252I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162211	NM_014385.4(SIGLEC7):c.1061G>C (p.Gly354Ala)	SIGLEC7 (G354A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332846	NM_014385.4(SIGLEC7):c.1069G>A (p.Gly357Arg)	SIGLEC7 (G357R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292280	NM_014385.4(SIGLEC7):c.1112T>A (p.Val371Asp)	SIGLEC7 (V278D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327948	NM_014385.4(SIGLEC7):c.1154G>A (p.Arg385Lys)	SIGLEC7 (R385K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342347	NM_014385.4(SIGLEC7):c.1168G>A (p.Val390Met)	SIGLEC7 (V297M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162212	NM_014385.4(SIGLEC7):c.1197C>G (p.Asn399Lys)	SIGLEC7 (N306K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3318511	NM_014385.4(SIGLEC7):c.1199C>T (p.Thr400Ile)	SIGLEC7 (T307I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376633	NM_014385.4(SIGLEC7):c.1210T>C (p.Ser404Pro)	SIGLEC7 (S311P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162213	NM_014385.4(SIGLEC7):c.1220A>G (p.Gln407Arg)	SIGLEC7 (Q407R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 29