C4540575[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 800788	NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)	PKHD1 (Q3899*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GLikely pathogenic
Select item 3068141	NM_138694.4(PKHD1):c.10462A>T (p.Asn3488Tyr)	PKHD1 (N3488Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 498158	NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)	PKHD1 (T3452A)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 198306	NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)	PKHD1 (C3346R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GUncertain significance
Select item 917955	NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro)	PKHD1 (Q2698P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 1030197	NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr)	PKHD1 (C1809Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 2677769	NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)	PKHD1 (F1785L)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GConflicting classifications of pathogenicity
Select item 188369	NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	LOC126859690, PKHD1 (R1624W)	Single nucleotide variant (missense variant)	Abnormal intrahepatic bile duct morphology +5 more	GPathogenic/Likely pathogenic
Select item 1177406	NM_138694.4(PKHD1):c.4644del (p.Tyr1549fs)	LOC126859690, PKHD1 (Y1549fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic
Select item 636692	NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu)	PKHD1 (G1180E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 970098	NM_138694.4(PKHD1):c.2280-2A>G	PKHD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 188876	NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)	PKHD1 (R760H)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 2501795	NM_138694.4(PKHD1):c.1145C>T (p.Ala382Val)	PKHD1 (A382V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 1206384	NM_138694.4(PKHD1):c.779-25dup	PKHD1	Duplication (intron variant)	Polycystic kidney disease 4 +1 more	GBenign
Select item 6821	NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	SHOC2 (S2G)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GPathogenic FDA Recognized database