ClinVar for MedGen (Select 322763) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2672066	NM_001407.3(CELSR3):c.3100G>C (p.Glu1034Gln)	CELSR3 (E1034Q)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GLikely pathogenic
Select item 2672065	NM_001407.3(CELSR3):c.3142C>T (p.Arg1048Trp)	CELSR3 (R1048W)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GLikely pathogenic
Select item 2506422	NM_016292.3(TRAP1):c.1915C>T (p.Gln639Ter)	DNASE1, TRAP1 (Q586* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital anomalies of kidney and urinary tract 1	GPathogenic
Select item 1333318	NM_015375.3(DSTYK):c.1053dup (p.Gln352fs)	DSTYK (Q352fs)	Duplication (frameshift variant)	Congenital anomalies of kidney and urinary tract 1	GLikely pathogenic
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 1031910	NM_015375.3(DSTYK):c.1384C>T (p.Arg462Ter)	DSTYK (R462*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 23 +1 more	GPathogenic/Likely pathogenic
Select item 829969	NM_015375.3(DSTYK):c.1060C>T (p.Arg354Cys)	DSTYK (R354C)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GUncertain significance
Select item 828135	NM_015375.3(DSTYK):c.2605G>T (p.Ala869Ser)	DSTYK (A824S +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GUncertain significance
Select item 684622	NM_020762.4(SRGAP1):c.1993C>A (p.Pro665Thr)	SRGAP1 (P642T +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GUncertain significance
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 224361	NM_015375.3(DSTYK):c.1253A>G (p.Asp418Gly)	DSTYK (D418G)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GUncertain significance
Select item 224360	NM_015375.3(DSTYK):c.1819-3C>T	DSTYK	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 224359	NM_015375.3(DSTYK):c.2368C>T (p.Arg790Cys)	DSTYK (R790C)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GUncertain significance
Select item 224358	NM_015375.3(DSTYK):c.53C>T (p.Pro18Leu)	DSTYK (P18L)	Single nucleotide variant (missense variant)	DSTYK-related condition +2 more	GConflicting classifications of pathogenicity
Select item 224357	NM_015375.3(DSTYK):c.358G>A (p.Asp120Asn)	DSTYK (D120N)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GUncertain significance
Select item 224356	NM_015375.3(DSTYK):c.1775G>A (p.Arg592Gln)	DSTYK (R592Q)	Single nucleotide variant (missense variant)	DSTYK-related condition +2 more	GConflicting classifications of pathogenicity
Select item 60687	NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)	DSTYK (R29Q)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1 +2 more	GConflicting classifications of pathogenicity
Select item 60686	NM_015375.3(DSTYK):c.655-3C>T	DSTYK	Single nucleotide variant (intron variant)	not provided	GLikely benign
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
Select item 60684	NM_015375.3(DSTYK):c.654+1G>A	DSTYK	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 23 +2 more	GConflicting classifications of pathogenicity
Select item 875	NM_006953.4(UPK3A):c.605G>A (p.Gly202Asp)	UPK3A (G202D +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GUncertain significance
Select item 873	NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu)	UPK3A (P273L +1 more)	Single nucleotide variant (missense variant)	UPK3A-related condition +2 more	GUncertain significance

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Items: 24