Related gene-specific medical variations for Gene (Select 25778) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086043	NM_015375.3(DSTYK):c.31G>C (p.Glu11Gln)	DSTYK, LOC129932301 (E11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065572	NM_015375.3(DSTYK):c.1477G>T (p.Gly493Ter)	DSTYK (G493*)	Single nucleotide variant (nonsense)	Congenital anomalies of kidney and urinary tract 1	GLikely pathogenic
Select item 2441042	NM_015375.3(DSTYK):c.1137C>T (p.Asp379=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2441041	NM_015375.3(DSTYK):c.905C>T (p.Pro302Leu)	DSTYK (P302L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2383659	NM_015375.3(DSTYK):c.22T>G (p.Trp8Gly)	DSTYK, LOC129932301 (W8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1298379	NM_015375.3(DSTYK):c.1060C>G (p.Arg354Gly)	DSTYK (R354G)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GUncertain significance
Select item 633653	NM_015375.3(DSTYK):c.2528C>T (p.Ser843Leu)	DSTYK (S843L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591736	NM_015375.3(DSTYK):c.136_148del (p.Arg46fs)	DSTYK (R46fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 60685	NM_015375.3(DSTYK):c.24G>A (p.Trp8Ter)	DSTYK, LOC129932301 (W8*)	Single nucleotide variant (nonsense)	Congenital anomalies of kidney and urinary tract 1	GPathogenic