"Ambry Genetics"[submitter] AND "SP7"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2471458	NM_001173467.3(SP7):c.1253C>T (p.Ala418Val)	SP7 (A418V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1983497	NM_001173467.3(SP7):c.1183C>T (p.Arg395Cys)	SP7 (R377C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2605498	NM_001173467.3(SP7):c.1177G>A (p.Glu393Lys)	SP7 (E375K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1385531	NM_001173467.3(SP7):c.1170G>T (p.Glu390Asp)	SP7 (E372D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2599730	NM_001173467.3(SP7):c.1148C>T (p.Pro383Leu)	SP7 (P365L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1369315	NM_001173467.3(SP7):c.1085G>A (p.Arg362His)	SP7 (R344H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3167947	NM_001173467.3(SP7):c.1037G>A (p.Arg346His)	SP7 (R346H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273783	NM_001173467.3(SP7):c.947G>A (p.Arg316His)	SP7 (R298H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1495322	NM_001173467.3(SP7):c.839G>T (p.Arg280Leu)	SP7 (R280L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1302961	NM_001173467.3(SP7):c.799C>T (p.Arg267Cys)	SP7 (R267C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2223733	NM_001173467.3(SP7):c.782G>T (p.Gly261Val)	SP7 (G243V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167953	NM_001173467.3(SP7):c.752G>T (p.Gly251Val)	SP7 (G233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258772	NM_001173467.3(SP7):c.751G>A (p.Gly251Ser)	SP7 (G233S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167952	NM_001173467.3(SP7):c.739A>C (p.Lys247Gln)	SP7 (K247Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1522376	NM_001173467.3(SP7):c.712G>T (p.Gly238Trp)	SP7 (G238W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2542315	NM_001173467.3(SP7):c.632C>T (p.Pro211Leu)	SP7 (P211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167951	NM_001173467.3(SP7):c.583C>G (p.Leu195Val)	SP7 (L177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167950	NM_001173467.3(SP7):c.574A>G (p.Asn192Asp)	SP7 (N192D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167949	NM_001173467.3(SP7):c.371G>A (p.Ser124Asn)	SP7 (S124N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1347155	NM_001173467.3(SP7):c.298C>T (p.Pro100Ser)	SP7 (P82S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2466042	NM_001173467.3(SP7):c.238A>C (p.Ser80Arg)	SP7 (S80R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339694	NM_001173467.3(SP7):c.199C>G (p.Pro67Ala)	SP7 (P49A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305915	NM_001173467.3(SP7):c.62C>T (p.Thr21Met)	SP7 (T3M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23