"Eurofins Ntd Llc (ga)"[submitter] AND "PKD2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92798	NM_000297.4(PKD2):c.83G>C (p.Arg28Pro)	LOC129992813, PKD2 (R28P)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 193079	NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)	LOC129992813, PKD2	Microsatellite (inframe_insertion +1 more)	not specified +4 more	GBenign/Likely benign
Select item 92795	NM_000297.4(PKD2):c.420G>A (p.Gly140=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	PKD2-related condition +4 more	GBenign
Select item 92796	NM_000297.4(PKD2):c.568G>A (p.Ala190Thr)	LOC129992813, PKD2 (A190T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 92797	NM_000297.4(PKD2):c.709+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 287394	NM_000297.4(PKD2):c.784G>A (p.Val262Met)	PKD2 (V262M)	Single nucleotide variant (missense variant +1 more)	PKD2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 434014	NM_000297.4(PKD2):c.1094+3_1094+6del	PKD2	Deletion (splice donor variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 92792	NM_000297.4(PKD2):c.1359A>G (p.Pro453=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 219481	NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)	PKD2 (F482C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 255790	NM_000297.4(PKD2):c.1549-4T>C	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 92793	NM_000297.4(PKD2):c.1899-6T>G	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 92794	NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys)	PKD2 (Q636K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 289403	NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)	PKD2 (S804N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 220091	NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)	PKD2 (R807Q)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 194468	NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)	PKD2 (S949C)	Single nucleotide variant (missense variant +1 more)	PKD2-related condition +2 more	GConflicting classifications of pathogenicity