"Ambry Genetics"[submitter] AND "SP1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167839	NM_138473.3(SP1):c.74A>G (p.Asn25Ser)	SP1 (N18S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167836	NM_138473.3(SP1):c.245A>G (p.Gln82Arg)	LOC130007983, SP1 (Q75R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468040	NM_138473.3(SP1):c.268A>G (p.Thr90Ala)	LOC130007983, SP1 (T83A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167837	NM_138473.3(SP1):c.269C>T (p.Thr90Ile)	LOC130007983, SP1 (T83I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379606	NM_138473.3(SP1):c.298C>T (p.Leu100Phe)	LOC130007983, SP1 (L100F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231431	NM_138473.3(SP1):c.361A>G (p.Lys121Glu)	LOC130007983, SP1 (K121E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617800	NM_138473.3(SP1):c.376A>G (p.Ser126Gly)	LOC130007983, SP1 (S119G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167838	NM_138473.3(SP1):c.440A>G (p.Tyr147Cys)	SP1 (Y140C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609962	NM_138473.3(SP1):c.512T>C (p.Ile171Thr)	SP1 (I171T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613773	NM_138473.3(SP1):c.625G>C (p.Gly209Arg)	SP1 (G161R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335768	NM_138473.3(SP1):c.680C>G (p.Ala227Gly)	SP1 (A220G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539608	NM_138473.3(SP1):c.823G>C (p.Ala275Pro)	SP1 (A275P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595209	NM_138473.3(SP1):c.893C>G (p.Pro298Arg)	SP1 (P291R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342938	NM_138473.3(SP1):c.942A>T (p.Gln314His)	SP1 (Q266H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304305	NM_138473.3(SP1):c.968A>G (p.Asn323Ser)	SP1 (N316S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229292	NM_138473.3(SP1):c.977G>C (p.Ser326Thr)	SP1 (S319T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454559	NM_138473.3(SP1):c.991A>G (p.Thr331Ala)	SP1 (T283A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167832	NM_138473.3(SP1):c.1067C>T (p.Pro356Leu)	SP1 (P308L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541230	NM_138473.3(SP1):c.1126T>A (p.Ser376Thr)	SP1 (S328T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592943	NM_138473.3(SP1):c.1166A>G (p.Glu389Gly)	SP1 (E382G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167833	NM_138473.3(SP1):c.1259T>C (p.Leu420Ser)	SP1 (L372S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514026	NM_138473.3(SP1):c.1355G>A (p.Arg452Gln)	SP1 (R452Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516436	NM_138473.3(SP1):c.1428C>G (p.Asn476Lys)	SP1 (N428K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486883	NM_138473.3(SP1):c.1457C>A (p.Pro486Gln)	SP1 (P479Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354406	NM_138473.3(SP1):c.1459A>G (p.Met487Val)	SP1 (M439V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167834	NM_138473.3(SP1):c.1463A>G (p.Gln488Arg)	SP1 (Q488R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348489	NM_138473.3(SP1):c.1676G>A (p.Gly559Asp)	SP1 (G511D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542314	NM_138473.3(SP1):c.1753G>A (p.Gly585Arg)	SP1 (G578R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167835	NM_138473.3(SP1):c.1850C>T (p.Ser617Leu)	SP1 (S569L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359326	NM_138473.3(SP1):c.2282G>A (p.Arg761His)	SP1 (R713H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210326	NM_138473.3(SP1):c.2303A>G (p.Asn768Ser)	SP1 (N720S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 31