"GeneDx"[submitter] AND "LOC126859690"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192818	NM_138694.4(PKHD1):c.5236+310T>A	LOC126859690, PKHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 96405	NM_138694.4(PKHD1):c.5236+14A>G	LOC126859690, PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +3 more	GBenign
Select item 1304574	NM_138694.4(PKHD1):c.5231A>G (p.Asn1744Ser)	LOC126859690, PKHD1 (N1744S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 4111	NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)	LOC126859690, PKHD1 (V1741M)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 241846	NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=)	LOC126859690, PKHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2506706	NM_138694.4(PKHD1):c.5183C>T (p.Ser1728Phe)	LOC126859690, PKHD1 (S1728F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878676	NM_138694.4(PKHD1):c.5146G>A (p.Val1716Ile)	LOC126859690, PKHD1 (V1716I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 286651	NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)	LOC126859690, PKHD1 (G1712R)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 550835	NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)	LOC126859690, PKHD1 (P1710L)	Single nucleotide variant (missense variant)	Renal cyst +3 more	GConflicting classifications of pathogenicity
Select item 262404	NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)	LOC126859690, PKHD1 (L1709F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 196804	NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=)	LOC126859690, PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +2 more	GBenign/Likely benign
Select item 196807	NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)	PKHD1, LOC126859690 (I1687T)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 1314430	NM_138694.4(PKHD1):c.5028G>C (p.Gln1676His)	LOC126859690, PKHD1 (Q1676H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800553	NM_138694.4(PKHD1):c.4921G>A (p.Asp1641Asn)	LOC126859690, PKHD1 (D1641N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196805	NM_138694.4(PKHD1):c.4920A>G (p.Val1640=)	LOC126859690, PKHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 502043	NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln)	LOC126859690, PKHD1 (R1624Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 188369	NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	LOC126859690, PKHD1 (R1624W)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +4 more	GPathogenic/Likely pathogenic
Select item 3364611	NM_138694.4(PKHD1):c.4593T>A (p.Phe1531Leu)	LOC126859690, PKHD1 (F1531L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance