"Ambry Genetics"[submitter] AND "STK33"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2228182	NM_001352389.2(STK33):c.1526G>C (p.Arg509Thr)	STK33 (R322T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387947	NM_001352389.2(STK33):c.1463C>A (p.Thr488Asn)	STK33 (T422N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299232	NM_001352389.2(STK33):c.1398G>C (p.Met466Ile)	STK33 (M466I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603723	NM_001352389.2(STK33):c.1256C>T (p.Pro419Leu)	STK33 (P378L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456755	NM_001352389.2(STK33):c.1256C>G (p.Pro419Arg)	STK33 (P419R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300280	NM_001352389.2(STK33):c.1229A>G (p.Glu410Gly)	STK33 (E223G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356148	NM_001352389.2(STK33):c.1211A>G (p.Asn404Ser)	STK33 (N404S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386177	NM_001352389.2(STK33):c.1105A>G (p.Arg369Gly)	STK33 (R182G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264279	NM_001352389.2(STK33):c.1096C>G (p.Pro366Ala)	STK33 (P366A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529650	NM_001352389.2(STK33):c.962C>T (p.Pro321Leu)	STK33 (P134L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354057	NM_001352389.2(STK33):c.934G>A (p.Val312Ile)	STK33 (V312I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2467490	NM_001352389.2(STK33):c.897C>G (p.Asp299Glu)	STK33 (D258E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617246	NM_001352389.2(STK33):c.718A>C (p.Lys240Gln)	STK33 (K240Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524179	NM_001352389.2(STK33):c.667G>A (p.Ala223Thr)	STK33 (A182T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512127	NM_001352389.2(STK33):c.602A>G (p.Lys201Arg)	STK33 (K201R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385272	NM_001352389.2(STK33):c.595G>C (p.Glu199Gln)	STK33 (E158Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456454	NM_001352389.2(STK33):c.415G>A (p.Glu139Lys)	STK33 (E139K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206776	NM_001352389.2(STK33):c.320A>G (p.Glu107Gly)	STK33 (E66G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386285	NM_001352389.2(STK33):c.278G>A (p.Arg93Gln)	STK33 (R52Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568935	NM_001352389.2(STK33):c.277C>T (p.Arg93Trp)	STK33 (R52W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331342	NM_001352389.2(STK33):c.148A>G (p.Ser50Gly)	STK33 (S50G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391417	NM_001352389.2(STK33):c.142A>G (p.Ile48Val)	STK33 (I7V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 22