C0085413[trait identifier] AND "Molecular Genetics of Inherited Kidney - ClinVar - NCBI

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	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 477627	NM_000297.4(PKD2):c.203dup (p.Ala69fs)	LOC129992813, PKD2 (A69fs)	Duplication (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic
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 543947	NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)	PKD2 (R213*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic
Select item 976810	NM_000297.4(PKD2):c.843+57T>C	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 440143	NM_000297.4(PKD2):c.844-22G>A	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease 2 +2 more	GBenign
Select item 397507	NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)	PKD2 (R306*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic
Select item 448039	NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)	PKD2 (R322W)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +4 more	GPathogenic/Likely pathogenic
Select item 411870	NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)	PKD2 (R325*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 976811	NM_000297.4(PKD2):c.1094+92A>G	PKD2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 976828	NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs)	PKD2 (K410fs)	Duplication (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 562248	NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)	PKD2 (R417*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 477626	NM_000297.4(PKD2):c.2019+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2 +3 more	GPathogenic/Likely pathogenic
Select item 976823	NM_000297.4(PKD2):c.2118+1G>C	PKD2	Single nucleotide variant (splice donor variant)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic
Select item 13522	NM_000297.4(PKD2):c.2159dup (p.Asn720fs)	PKD2 (N720fs)	Duplication (non-coding transcript variant +1 more)	Polycystic kidney disease 2 +3 more	GPathogenic
Select item 219985	NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)	PKD2 (M800L)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 7 +4 more	GConflicting classifications of pathogenicity
Select item 618321	NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)	PKD2 (R803*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
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 438702	NM_000297.4(PKD2):c.2524del (p.Leu842fs)	PKD2 (L842fs)	Deletion (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 976807	Single allele	DMP1, ABCG2 +22 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 256884	NM_001009944.3(PKD1):c.*15G>A	PKD1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant polycystic kidney disease +2 more	GBenign/Likely benign
Select item 256921	NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 976801	NM_001009944.3(PKD1):c.12444+17dup	MIR1225, PKD1	Duplication (non-coding transcript variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 256918	NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 434007	NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)	PKD1 (E4131del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256917	NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 256915	NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val)	PKD1 (A4059V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 976840	NM_001009944.3(PKD1):c.12139-23C>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GBenign
Select item 440084	NM_001009944.3(PKD1):c.12138+22del	PKD1	Deletion (intron variant)	not specified +2 more	GBenign
Select item 256913	NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val)	PKD1 (I4045V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 440082	NM_001009944.3(PKD1):c.12004-34C>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 256912	NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 256909	NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 440137	NM_001009944.3(PKD1):c.11713-1G>A	PKD1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 972877	NM_001009944.3(PKD1):c.11712+1G>C	PKD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 976822	NM_001009944.3(PKD1):c.11539A>C (p.Ser3847Arg)	PKD1, PKD1-AS1 (S3846R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 976834	NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 976794	NM_001009944.3(PKD1):c.11269+128C>T	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GBenign
Select item 636966	NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)	PKD1, PKD1-AS1 (R3750Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 805137	NM_001009944.3(PKD1):c.11017-10C>A	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type +2 more	GPathogenic/Likely pathogenic
Select item 1800458	NM_001009944.3(PKD1):c.11017-25A>G	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GLikely pathogenic
Select item 1699193	NM_001009944.3(PKD1):c.11017-25A>C	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type +1 more	GConflicting classifications of pathogenicity
Select item 976816	NM_001009944.3(PKD1):c.11016+42_11016+43del	PKD1, PKD1-AS1	Deletion (intron variant)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 256894	NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 256893	NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val)	PKD1, PKD1-AS1 (A3512V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 256891	NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met)	PKD1, PKD1-AS1 (T3510M +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 976817	NM_001009944.3(PKD1):c.10221-80del	PKD1	Deletion (intron variant)	Autosomal dominant polycystic kidney disease	GBenign
Select item 586238	NM_001009944.3(PKD1):c.10167+25_10167+43del	PKD1	Deletion (intron variant)	Polycystic kidney disease, adult type +2 more	GPathogenic/Likely pathogenic
Select item 1800461	NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)	PKD1 (S3373*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 440086	NM_001009944.3(PKD1):c.10051-25G>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 976795	NM_001009944.3(PKD1):c.10050+54A>G	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GBenign
Select item 976804	NM_001009944.3(PKD1):c.10036A>T (p.Met3346Leu)	PKD1 (M3346L)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 257047	NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 976841	NM_001009944.3(PKD1):c.9894G>A (p.Trp3298Ter)	PKD1 (W3298*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 192320	NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)	PKD1 (R3277C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GPathogenic/Likely pathogenic
Select item 976835	NM_001009944.3(PKD1):c.9695A>G (p.Lys3232Arg)	PKD1 (K3232R)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 976802	NM_001009944.3(PKD1):c.9620C>T (p.Thr3207Met)	PKD1 (T3207M)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 976796	NM_001009944.3(PKD1):c.9590T>C (p.Leu3197Pro)	PKD1 (L3197P)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 257043	NM_001009944.3(PKD1):c.9569-13T>C	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 225056	NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)	PKD1 (N3188del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 976803	NM_001009944.3(PKD1):c.9502_9504del (p.Phe3168del)	PKD1 (F3168del)	Deletion (inframe_deletion)	Autosomal dominant polycystic kidney disease	GLikely pathogenic
Select item 440135	NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)	PKD1 (I3167F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257042	NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 257041	NM_001009944.3(PKD1):c.9270C>T (p.Val3090=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related condition +3 more	GBenign
Select item 257040	NM_001009944.3(PKD1):c.9196T>C (p.Phe3066Leu)	PKD1 (F3066L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 257039	NM_001009944.3(PKD1):c.9195G>C (p.Val3065=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 257034	NM_001009944.3(PKD1):c.8949-17A>G	PKD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 976818	NM_001009944.3(PKD1):c.8948+80A>G	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GBenign
Select item 257030	NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp)	PKD1 (E2966D)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 257025	NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg)	PKD1 (W2882R)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 1800459	NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg)	PKD1 (Q2824R)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 257021	NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg)	PKD1 (G2814R)	Single nucleotide variant (missense variant)	PKD1-related condition +3 more	GBenign/Likely benign
Select item 976793	NM_001009944.3(PKD1):c.8335G>A (p.Glu2779Lys)	PKD1 (E2779K)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign/Likely benign
Select item 374097	NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	PKD1 (E2771K)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +4 more	GPathogenic/Likely pathogenic
Select item 976837	NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)	PKD1 (M2764T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 976838	NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro)	PKD1 (R2761P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 976839	NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr)	PKD1 (M2760T)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 257016	NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 976819	NM_001009944.3(PKD1):c.8207C>G (p.Pro2736Arg)	PKD1 (P2736R)	Single nucleotide variant (missense variant)	PKD1-related condition +1 more	GLikely benign
Select item 257015	NM_001009944.3(PKD1):c.8187G>A (p.Ser2729=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +2 more	GBenign
Select item 976825	NM_001009944.3(PKD1):c.8162-37C>T	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GBenign
Select item 976830	NM_001009944.3(PKD1):c.8161+70C>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GBenign
Select item 440080	NM_001009944.3(PKD1):c.8161+38G>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 440078	NM_001009944.3(PKD1):c.8161+29G>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 440071	NM_001009944.3(PKD1):c.8161+21T>C	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type +1 more	GBenign
Select item 257011	NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met)	PKD1 (T2708M)	Single nucleotide variant (missense variant)	PKD1-related condition +3 more	GBenign/Likely benign
Select item 440103	NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)	PKD1 (A2704V)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +3 more	GBenign/Likely benign
Select item 440072	NM_001009944.3(PKD1):c.8016+26T>C	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type +1 more	GBenign
Select item 871752	NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)	PKD1 (R2643C)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 257008	NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg)	PKD1 (H2638R)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 976826	NM_001009944.3(PKD1):c.7863+47T>G	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GBenign
Select item 976829	NM_001009944.3(PKD1):c.7734C>T (p.Asn2578=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease	GBenign
Select item 257004	NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 976800	NM_001009944.3(PKD1):c.7489+41G>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GBenign
Select item 972832	NM_001009944.3(PKD1):c.7489+5G>A	PKD1	Single nucleotide variant (intron variant)	PKD1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 257001	NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 562262	NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)	PKD1 (R2430*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic
Select item 976831	NM_001009944.3(PKD1):c.7222C>T (p.Arg2408Cys)	PKD1 (R2408C)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 256997	NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 976832	NM_001009944.3(PKD1):c.7066-55T>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GBenign

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