"PreventionGenetics, part of Exact Sciences"[submitter] AND "DSTYK"[ge - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2071647	NM_015375.3(DSTYK):c.2747C>T (p.Ser916Phe)	DSTYK (S871F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3061210	NM_015375.3(DSTYK):c.2700C>T (p.Gly900=)	DSTYK	Single nucleotide variant (synonymous variant)	DSTYK-related disorder	GUncertain significance
Select item 2070332	NM_015375.3(DSTYK):c.2216G>A (p.Arg739Gln)	DSTYK (R739Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 515728	NM_015375.3(DSTYK):c.2106-7C>T	DSTYK	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 260658	NM_015375.3(DSTYK):c.2028C>T (p.Phe676=)	DSTYK	Single nucleotide variant (synonymous variant)	Congenital anomalies of kidney and urinary tract 1 +3 more	GBenign
Select item 260657	NM_015375.3(DSTYK):c.1921T>C (p.Cys641Arg)	DSTYK (C641R)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1 +3 more	GBenign
Select item 2887854	NM_015375.3(DSTYK):c.1791C>T (p.His597=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 224356	NM_015375.3(DSTYK):c.1775G>A (p.Arg592Gln)	DSTYK (R592Q)	Single nucleotide variant (missense variant)	DSTYK-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2187389	NM_015375.3(DSTYK):c.1760G>C (p.Ser587Thr)	DSTYK (S587T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 746694	NM_015375.3(DSTYK):c.1731C>T (p.Ser577=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3049341	NM_015375.3(DSTYK):c.1677C>G (p.Ala559=)	DSTYK	Single nucleotide variant (synonymous variant)	DSTYK-related disorder	GLikely benign
Select item 2629121	NM_015375.3(DSTYK):c.1612A>T (p.Thr538Ser)	DSTYK (T538S)	Single nucleotide variant (missense variant)	DSTYK-related disorder	GUncertain significance
Select item 1573434	NM_015375.3(DSTYK):c.983A>C (p.Lys328Thr)	DSTYK (K328T)	Single nucleotide variant (missense variant)	DSTYK-related disorder +1 more	GLikely benign
Select item 60684	NM_015375.3(DSTYK):c.654+1G>A	DSTYK	Single nucleotide variant (splice donor variant)	DSTYK-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 709715	NM_015375.3(DSTYK):c.461G>A (p.Arg154His)	DSTYK (R154H)	Single nucleotide variant (missense variant)	DSTYK-related disorder +1 more	GLikely benign
Select item 2067640	NM_015375.3(DSTYK):c.211G>A (p.Gly71Ser)	DSTYK (G71S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3043019	NM_015375.3(DSTYK):c.165C>T (p.Ile55=)	DSTYK	Single nucleotide variant (synonymous variant)	DSTYK-related disorder	GLikely benign
Select item 224358	NM_015375.3(DSTYK):c.53C>T (p.Pro18Leu)	DSTYK (P18L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity