"Ambry Genetics"[submitter] AND "SPATS2"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2493692	NM_023071.4(SPATS2):c.43T>G (p.Phe15Val)	SPATS2 (F15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471500	NM_023071.4(SPATS2):c.61A>G (p.Thr21Ala)	SPATS2 (T21A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548290	NM_023071.4(SPATS2):c.74A>G (p.Gln25Arg)	SPATS2 (Q25R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508165	NM_023071.4(SPATS2):c.113C>T (p.Ala38Val)	SPATS2 (A38V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308930	NM_023071.4(SPATS2):c.115G>A (p.Val39Ile)	SPATS2 (V39I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322024	NM_023071.4(SPATS2):c.140G>A (p.Ser47Asn)	SPATS2 (S47N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247392	NM_023071.4(SPATS2):c.287C>T (p.Pro96Leu)	SPATS2 (P96L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322021	NM_023071.4(SPATS2):c.298G>A (p.Ala100Thr)	SPATS2 (A100T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517165	NM_023071.4(SPATS2):c.416A>G (p.Asn139Ser)	SPATS2 (N139S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603549	NM_023071.4(SPATS2):c.452T>G (p.Leu151Trp)	SPATS2 (L151W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322023	NM_023071.4(SPATS2):c.512C>T (p.Thr171Met)	SPATS2 (T171M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2220883	NM_023071.4(SPATS2):c.540G>C (p.Gln180His)	SPATS2 (Q180H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168678	NM_023071.4(SPATS2):c.605C>G (p.Pro202Arg)	SPATS2 (P202R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249470	NM_023071.4(SPATS2):c.674A>C (p.Asp225Ala)	SPATS2 (D225A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168680	NM_023071.4(SPATS2):c.721T>C (p.Ser241Pro)	SPATS2 (S241P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168681	NM_023071.4(SPATS2):c.757G>A (p.Ala253Thr)	SPATS2 (A253T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598006	NM_023071.4(SPATS2):c.787A>G (p.Met263Val)	SPATS2 (M263V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515141	NM_023071.4(SPATS2):c.788T>C (p.Met263Thr)	SPATS2 (M263T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359107	NM_023071.4(SPATS2):c.860C>T (p.Ala287Val)	SPATS2 (A287V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235620	NM_023071.4(SPATS2):c.910C>T (p.Leu304Phe)	SPATS2 (L304F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168676	NM_023071.4(SPATS2):c.1079C>A (p.Thr360Asn)	SPATS2 (T360N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456932	NM_023071.4(SPATS2):c.1100C>T (p.Ser367Leu)	SPATS2 (S367L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322022	NM_023071.4(SPATS2):c.1181G>C (p.Ser394Thr)	SPATS2 (S394T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295412	NM_023071.4(SPATS2):c.1211C>A (p.Ser404Tyr)	SPATS2 (S404Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375187	NM_023071.4(SPATS2):c.1248C>A (p.Asn416Lys)	SPATS2 (N416K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322019	NM_023071.4(SPATS2):c.1385A>G (p.Asn462Ser)	SPATS2 (N462S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2507604	NM_023071.4(SPATS2):c.1405C>T (p.Arg469Trp)	SPATS2 (R469W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212220	NM_023071.4(SPATS2):c.1423C>T (p.Arg475Cys)	SPATS2 (R475C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395996	NM_023071.4(SPATS2):c.1445A>G (p.Tyr482Cys)	SPATS2 (Y482C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524844	NM_023071.4(SPATS2):c.1500T>G (p.Ile500Met)	SPATS2 (I500M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322020	NM_023071.4(SPATS2):c.1528A>G (p.Thr510Ala)	SPATS2 (T510A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

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Items: 31