ClinVar (all) for Orgtrack (Select 504834) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549710	NM_001009944.3(PKD1):c.7925_7926del (p.Ile2642fs)	PKD1 (I2642fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 488408	NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter)	PKD1 (E3450* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 488407	NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter)	PKD1 (S383*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 488406	NM_001009944.3(PKD1):c.5809del (p.Ser1937fs)	PKD1 (S1937fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 488405	NM_001009944.3(PKD1):c.11314del (p.Ala3772fs)	PKD1, PKD1-AS1 (A3772fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 488344	NM_001009944.3(PKD1):c.10487del (p.Leu3496fs)	PKD1 (L3495fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 488185	NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs)	PKD1 (R3000fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 488184	NM_001009944.3(PKD1):c.12499del (p.Arg4167fs)	PKD1 (R4166fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 430692	NM_006194.3(PAX9):c.3G>A (p.Met1Ile)	PAX9	Single nucleotide variant	Tooth agenesis, selective, 3	GPathogenic
Select item 430575	NM_001399.5(EDA):c.180C>A (p.Cys60Ter)	EDA (C60*)	Single nucleotide variant (nonsense)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 208140	NM_001009944.3(PKD1):c.9988dup (p.Ser3330fs)	PKD1 (S3330fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	Gnot provided
Select item 208064	NM_001009944.3(PKD1):c.445del (p.Gln149fs)	PKD1 (Q149fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 183259	NM_032409.3(PINK1):c.799C>T (p.Gln267Ter)	PINK1, PINK1-AS (Q267*)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 6	Gnot provided
Select item 155939	NM_001372076.1(PAX9):c.336C>G (p.Cys112Trp)	PAX9 (C112W)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GPathogenic
Select item 127066	NM_001399.5(EDA):c.956G>T (p.Ser319Ile)	EDA (S319I +2 more)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, X-linked, 1	Gnot provided