"Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic C - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586238	NM_001009944.3(PKD1):c.10167+25_10167+43del	PKD1	Deletion (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1334536	NM_001009944.3(PKD1):c.9726_9727insA (p.Leu3243fs)	PKD1 (L3243fs)	Insertion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2627008	NM_001009944.3(PKD1):c.9707C>T (p.Ala3236Val)	PKD1 (A3236V)	Single nucleotide variant (missense variant)	PKD1-related disorder +1 more	GUncertain significance
Select item 1331619	NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)	PKD1 (V3138M)	Single nucleotide variant (missense variant)	PKD1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 618819	NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val)	PKD1 (M3023V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703191	NM_001009944.3(PKD1):c.8705A>G (p.Gln2902Arg)	PKD1 (Q2902R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374097	NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	PKD1 (E2771K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1331600	NM_001009944.3(PKD1):c.8116A>C (p.Thr2706Pro)	PKD1 (T2706P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636809	NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)	PKD1 (R2639*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1254605	NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)	PKD1 (T2424M)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 1710426	NM_001009944.3(PKD1):c.6130A>G (p.Asn2044Asp)	PKD1 (N2044D)	Single nucleotide variant (missense variant)	PKD1-related disorder +1 more	GUncertain significance
Select item 992338	NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu)	PKD1	Deletion (inframe_indel)	not provided	GConflicting classifications of pathogenicity
Select item 1334501	NM_001009944.3(PKD1):c.2877_2880del (p.Gly960fs)	PKD1 (G960fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1334541	NM_001009944.3(PKD1):c.1654del (p.Asp552fs)	PKD1 (D552fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1254004	NM_001009944.3(PKD1):c.709C>G (p.Pro237Ala)	PKD1 (P237A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance