ClinVar for MedGen (Select 140917) - ClinVar

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Items: 20

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13284251.	NM_153704.6(TMEM67):c.651+2T>C GRCh37: Chr8:94777876 GRCh38: Chr8:93765648	TMEM67		Enlarged kidney, Multiple renal cysts, Anhydramnios	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 13284242.	NM_153704.6(TMEM67):c.1981_1982delinsT (p.Ala661fs) GRCh37: Chr8:94809579-94809580 GRCh38: Chr8:93797351-93797352	TMEM67	A580fs, A661fs	Anhydramnios, Multiple renal cysts, Enlarged kidney	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 13284233.	NM_016306.6(DNAJB11):c.600-2A>C GRCh37: Chr3:186299782 GRCh38: Chr3:186581993	DNAJB11		Enlarged kidney, Multiple renal cysts, Anhydramnios	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 13284224.	NM_001009944.3(PKD1):c.11156+2T>C GRCh37: Chr16:2142953 GRCh38: Chr16:2092952	PKD1, PKD1-AS1		Enlarged kidney, Hyperechogenic kidneys, Multiple renal cysts, Anhydramnios	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 13284205.	NM_000297.4(PKD2):c.2020-2del GRCh37: Chr4:88983056 GRCh38: Chr4:88061904	PKD2		Enlarged kidney, Hyperechogenic kidneys, Multiple renal cysts, Anhydramnios	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 13284186.	NM_138694.4(PKHD1):c.10287dup (p.Val3430fs) GRCh37: Chr6:51524636-51524637 GRCh38: Chr6:51659838-51659839	PKHD1	V3430fs	Anhydramnios, Hyperechogenic kidneys, Multiple renal cysts, Enlarged kidney	Pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 13284177.	NM_138694.4(PKHD1):c.1694-74_1837-287del GRCh37: Chr6:51919250-51920601 GRCh38: Chr6:52054452-52055803	PKHD1		Anhydramnios, Hyperechogenic kidneys, Multiple renal cysts, Enlarged kidney	Pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 13284168.	NM_138694.4(PKHD1):c.444_445del (p.Pro149fs) GRCh37: Chr6:51941077-51941078 GRCh38: Chr6:52076279-52076280	PKHD1	P149fs	Anhydramnios, Hyperechogenic kidneys, Multiple renal cysts, Enlarged kidney	Pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 13284159.	NM_153240.5(NPHP3):c.3412_3413del (p.Leu1138fs) GRCh37: Chr3:132403555-132403556 GRCh38: Chr3:132684711-132684712	NPHP3, NPHP3-ACAD11	L1138fs	Anhydramnios, Multiple renal cysts, Enlarged kidney	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 132841410.	NM_153240.5(NPHP3):c.2279_2280insT (p.Asn761fs) GRCh37: Chr3:132413701-132413702 GRCh38: Chr3:132694857-132694858	NPHP3, NPHP3-ACAD11	N761fs	Anhydramnios, Multiple renal cysts, Enlarged kidney	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 132840611.	NM_001009944.3(PKD1):c.3764G>A (p.Gly1255Asp) GRCh37: Chr16:2161404 GRCh38: Chr16:2111403	PKD1	G1255D	Anhydramnios, Multiple renal cysts	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 132840512.	NM_000297.4(PKD2):c.916C>G (p.Arg306Gly) GRCh37: Chr4:88959475 GRCh38: Chr4:88038323	PKD2	R306G	Polycystic kidney disease 2, Anhydramnios, Multiple renal cysts	Uncertain significance (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132840413.	NM_138694.4(PKHD1):c.654_662del (p.Glu218_Tyr221delinsAsp) GRCh37: Chr6:51935809-51935817 GRCh38: Chr6:52071011-52071019	PKHD1		Anhydramnios, Multiple renal cysts	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 132840314.	NM_138694.4(PKHD1):c.8852G>T (p.Gly2951Val) GRCh37: Chr6:51618097 GRCh38: Chr6:51753299	PKHD1	G2951V	Anhydramnios, Multiple renal cysts	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 69193915.	NM_024072.4(DDX54):c.856G>A (p.Val286Met) GRCh37: Chr12:113612859 GRCh38: Chr12:113175054	DDX54	V286M	Renal hypoplasia, Multiple renal cysts, Reduced renal corticomedullary differentiation, Neurodevelopmental disorders	Likely pathogenic (May 30, 2019)	no assertion criteria provided
Select item 69193216.	NM_003587.5(DHX16):c.2091G>T (p.Gln697His) GRCh37: Chr6:30624786 GRCh38: Chr6:30657009	DHX16	Q216H, Q637H, Q697H	Neuromuscular disease and ocular or auditory anomalies with or without seizures, Neurodevelopmental disorders, Enlarged kidney, Multiple renal cysts, Reduced renal corticomedullary differentiation	Pathogenic/Likely pathogenic (Jul 14, 2020)	no assertion criteria provided
Select item 52338817.	NM_001009944.3(PKD1):c.6877C>T (p.Pro2293Ser) GRCh37: Chr16:2158291 GRCh38: Chr16:2108290	PKD1	P2293S	Multiple renal cysts, Pancreatic cysts, Hepatic cysts	Likely pathogenic (Jan 1, 2017)	criteria provided, single submitter
Select item 52335318.	NM_000297.4(PKD2):c.2241-14C>T GRCh37: Chr4:88986900 GRCh38: Chr4:88065748	PKD2		Hydrocele testis, Multiple renal cysts	Uncertain significance (Jan 1, 2017)	criteria provided, single submitter
Select item 37409719.	NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) GRCh37: Chr16:2153747 GRCh38: Chr16:2103746	PKD1	E2771K	Autosomal dominant polycystic kidney disease, Hypertensive disorder, Multiple renal cysts, not provided, Polycystic kidney disease, adult type	Pathogenic/Likely pathogenic (Jul 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4897120.	NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) GRCh37: Chr9:135776215-135776218 GRCh38: Chr9:132900828-132900831	TSC1	N716fs, N837fs, N786fs, N836fs	not provided, Lymphangiomyomatosis, Tuberous sclerosis 1, Seizure, Multiple renal cysts, Cortical tubers	Pathogenic (Jan 30, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 20