ClinVar for MedGen (Select 854361) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172653	NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter)	DNAJB11 (R24*)	Single nucleotide variant (nonsense +1 more)	Renal cyst +1 more	GPathogenic
Select item 1172618	NM_001009944.3(PKD1):c.[9428_9429insCACGA;9432_9433del]	PKD1 (V3145fs +1 more)	Deletion (frameshift variant)	Renal cyst	GPathogenic
Select item 1172603	NM_138694.4(PKHD1):c.3622dup (p.Leu1208fs)	PKHD1 (L1208fs)	Duplication (frameshift variant)	Renal cyst	GLikely pathogenic
Select item 1077135	NM_001378615.1(CC2D2A):c.1497del (p.Glu500fs)	CC2D2A (E451fs +1 more)	Deletion (frameshift variant)	Renal cyst +2 more	GLikely pathogenic
Select item 982686	NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter)	UNC13C (R95*)	Single nucleotide variant (nonsense)	Clubfoot +4 more	GUncertain significance
Select item 550835	NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)	LOC126859690, PKHD1 (P1710L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 433972	NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)	PKD1 (R2163*)	Single nucleotide variant (nonsense)	not specified +3 more	GPathogenic
Select item 374180	NM_138694.4(PKHD1):c.5081dup (p.Val1695fs)	LOC126859690, PKHD1 (V1695fs)	Duplication (frameshift variant)	Polycystic kidney disease +2 more	GPathogenic
Select item 374154	NM_001009944.3(PKD1):c.3019G>A (p.Val1007Met)	PKD1 (V1007M)	Single nucleotide variant (missense variant)	Renal cyst +1 more	GUncertain significance
Select item 374044	NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp)	PKD1 (V3062D)	Single nucleotide variant (missense variant)	Hypertensive disorder +4 more	GLikely pathogenic
Select item 374036	NC_000003.12:g.10133799_10141895del	LOC107303339, VHL	Deletion	Pancreatic cysts +1 more	GPathogenic
Select item 373907	NM_003990.3(PAX2):c.213-1_225delGGTACTACGAGACC	PAX2	Deletion (genic downstream transcript variant)	Renal cyst	GLikely pathogenic
Select item 217725	NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	TMEM67 (R360C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +23 more	GConflicting classifications of pathogenicity
Select item 189110	NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)	PKHD1 (W937*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +3 more	GPathogenic/Likely pathogenic
Select item 56312	NM_001378615.1(CC2D2A):c.4179+1del	CC2D2A	Deletion (splice donor variant)	Familial aplasia of the vermis +17 more	GPathogenic
Select item 1383	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	TMEM67 (C615R +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related condition +27 more	GPathogenic/Likely pathogenic