ClinVar for MedGen (Select 140917) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328425	NM_153704.6(TMEM67):c.651+2T>C	TMEM67	Single nucleotide variant (splice donor variant)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328424	NM_153704.6(TMEM67):c.1981_1982delinsT (p.Ala661fs)	TMEM67 (A580fs +1 more)	Indel (frameshift variant +1 more)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328423	NM_016306.6(DNAJB11):c.600-2A>C	DNAJB11	Single nucleotide variant (splice acceptor variant)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328422	NM_001009944.3(PKD1):c.11156+2T>C	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Enlarged kidney +3 more	GLikely pathogenic
Select item 1328420	NM_000297.4(PKD2):c.2020-2del	PKD2	Deletion (splice acceptor variant)	Enlarged kidney +3 more	GLikely pathogenic
Select item 1328418	NM_138694.4(PKHD1):c.10287dup (p.Val3430fs)	PKHD1 (V3430fs)	Duplication (frameshift variant)	Enlarged kidney +3 more	GPathogenic
Select item 1328417	NM_138694.4(PKHD1):c.1694-74_1837-287del	PKHD1	Deletion (splice acceptor variant +1 more)	Anhydramnios +3 more	GPathogenic
Select item 1328416	NM_138694.4(PKHD1):c.444_445del (p.Pro149fs)	PKHD1 (P149fs)	Deletion (frameshift variant)	Enlarged kidney +3 more	GPathogenic
Select item 1328415	NM_153240.5(NPHP3):c.3412_3413del (p.Leu1138fs)	NPHP3, NPHP3-ACAD11 (L1138fs)	Deletion (non-coding transcript variant +1 more)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328414	NM_153240.5(NPHP3):c.2279_2280insT (p.Asn761fs)	NPHP3, NPHP3-ACAD11 (N761fs)	Insertion (non-coding transcript variant +1 more)	Enlarged kidney +2 more	GLikely pathogenic
Select item 1328406	NM_001009944.3(PKD1):c.3764G>A (p.Gly1255Asp)	PKD1 (G1255D)	Single nucleotide variant (missense variant)	Multiple renal cysts +1 more	GUncertain significance
Select item 1328405	NM_000297.4(PKD2):c.916C>G (p.Arg306Gly)	PKD2 (R306G)	Single nucleotide variant (missense variant +1 more)	Multiple renal cysts +2 more	GUncertain significance
Select item 1328404	NM_138694.4(PKHD1):c.654_662del (p.Glu218_Tyr221delinsAsp)	PKHD1	Deletion (inframe_indel)	Multiple renal cysts +1 more	GUncertain significance
Select item 1328403	NM_138694.4(PKHD1):c.8852G>T (p.Gly2951Val)	PKHD1 (G2951V)	Single nucleotide variant (missense variant)	Multiple renal cysts +1 more	GUncertain significance
Select item 691939	NM_024072.4(DDX54):c.856G>A (p.Val286Met)	DDX54 (V286M)	Single nucleotide variant (missense variant)	DDX54-related condition	GBenign
Select item 691932	NM_003587.5(DHX16):c.2091G>T (p.Gln697His)	DHX16 (Q216H +2 more)	Single nucleotide variant (missense variant)	Neuromuscular disease and ocular or auditory anomalies with or without seizures +4 more	GPathogenic/Likely pathogenic
Select item 523388	NM_001009944.3(PKD1):c.6877C>T (p.Pro2293Ser)	PKD1 (P2293S)	Single nucleotide variant (missense variant)	Multiple renal cysts +2 more	GLikely pathogenic
Select item 523353	NM_000297.4(PKD2):c.2241-14C>T	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 374097	NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	PKD1 (E2771K)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +4 more	GPathogenic/Likely pathogenic
Select item 48971	NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)	TSC1 (N716fs +3 more)	Deletion (frameshift variant)	Lymphangiomyomatosis +5 more	GPathogenic

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Items: 20