ClinVar (all) for Orgtrack (Select 507627) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362384	NM_001009944.3(PKD1):c.9503T>C (p.Phe3168Ser)	PKD1 (F3168S)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GLikely pathogenic
Select item 3362383	NM_001009944.3(PKD1):c.12310del (p.Val4104fs)	PKD1 (V4103fs +1 more)	Deletion (frameshift variant)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 3362382	NM_001009944.3(PKD1):c.6071del (p.Arg2024fs)	PKD1 (R2024fs)	Deletion (frameshift variant)	Autosomal dominant polycystic kidney disease	GPathogenic
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 1800460	NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)	PKD1 (A664V)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
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 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	GLikely pathogenic
Select item 988772	NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)	PKD1 (G960S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 978067	Single allele	BRICD5, CASKIN1 +7 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
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 976840	NM_001009944.3(PKD1):c.12139-23C>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GBenign
Select item 976839	NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr)	PKD1 (M2760T)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +1 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 976837	NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)	PKD1 (M2764T)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +2 more	GUncertain significance
Select item 976836	NM_001009944.3(PKD1):c.167T>C (p.Leu56Pro)	PKD1 (L56P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 976834	NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 976833	NM_001009944.3(PKD1):c.176_206del (p.Leu59fs)	PKD1 (L59fs)	Deletion (frameshift variant)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 976832	NM_001009944.3(PKD1):c.7066-55T>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
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 976830	NM_001009944.3(PKD1):c.8161+70C>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign/Likely benign
Select item 976829	NM_001009944.3(PKD1):c.7734C>T (p.Asn2578=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign/Likely benign
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 976827	NM_001009944.3(PKD1):c.78del (p.Arg28fs)	PKD1 (R28fs)	Deletion (frameshift variant)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 976826	NM_001009944.3(PKD1):c.7863+47T>G	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 976825	NM_001009944.3(PKD1):c.8162-37C>T	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 976824	NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter)	PKD1 (C2178*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic kidney disease	GPathogenic
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 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 976821	NM_001009944.3(PKD1):c.6557G>C (p.Arg2186Pro)	PKD1 (R2186P)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 976820	Single allele	PKD1, RAB26	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 976819	NM_001009944.3(PKD1):c.8207C>G (p.Pro2736Arg)	PKD1 (P2736R)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GLikely benign
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 976817	NM_001009944.3(PKD1):c.10221-80del	PKD1	Deletion (intron variant)	Autosomal dominant polycystic kidney disease	GBenign
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 976815	NM_001009944.3(PKD1):c.2720ACGTGGTGG[1] (p.Asp910_Val912del)	PKD1	Microsatellite (inframe_deletion)	Autosomal dominant polycystic kidney disease	GLikely pathogenic
Select item 976814	NM_001009944.3(PKD1):c.6605C>T (p.Ala2202Val)	PKD1 (A2202V)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 976813	NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys)	PKD1 (Y2114C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 976812	NM_001009944.3(PKD1):c.1232_1251dup (p.His418fs)	PKD1 (H418fs)	Duplication (frameshift variant)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 976811	NM_000297.4(PKD2):c.1094+92A>G	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
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 976809	NM_001009944.3(PKD1):c.1488G>T (p.Leu496=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease	GBenign
Select item 976808	NM_001009944.3(PKD1):c.1491dup (p.Gly498fs)	PKD1 (G498fs)	Duplication (frameshift variant)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 976807	Single allele	DMP1, ABCG2 +22 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 976806	NC_000016.10:g.2132490_2138215del	LOC130058212, MIR4516 +3 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 976805	NM_001009944.3(PKD1):c.7065+20C>T	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 976803	NM_001009944.3(PKD1):c.9502_9504del (p.Phe3168del)	PKD1 (F3168del)	Deletion (inframe_deletion)	Autosomal dominant polycystic kidney disease	GLikely pathogenic
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 976801	NM_001009944.3(PKD1):c.12444+17dup	MIR1225, PKD1	Duplication (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 976800	NM_001009944.3(PKD1):c.7489+41G>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign/Likely benign
Select item 976799	NM_001009944.3(PKD1):c.6637C>T (p.Arg2213Trp)	PKD1 (R2213W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 976798	NM_001009944.3(PKD1):c.3296-56C>T	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 976797	NM_001009944.3(PKD1):c.6915+77A>T	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
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 976795	NM_001009944.3(PKD1):c.10050+54A>G	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 976794	NM_001009944.3(PKD1):c.11269+128C>T	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GBenign
Select item 976793	NM_001009944.3(PKD1):c.8335G>A (p.Glu2779Lys)	PKD1 (E2779K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 972886	NM_001009944.3(PKD1):c.12307del (p.Ala4103fs)	PKD1 (A4103fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 972885	NM_000297.4(PKD2):c.2119-1603_2522+740del	PKD2	Deletion (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 972884	NM_000297.4(PKD2):c.875A>G (p.Tyr292Cys)	PKD2 (Y292C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 972883	NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)	PKD1 (I1610del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 972882	NM_138694.4(PKHD1):c.6800T>C (p.Leu2267Pro)	PKHD1 (L2267P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972881	NM_001009944.3(PKD1):c.11399C>G (p.Pro3800Arg)	PKD1, PKD1-AS1 (P3800R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972880	NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs)	PKD1 (R4109fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 972879	NM_001009944.3(PKD1):c.8955_8962del (p.Arg2985fs)	PKD1 (R2985fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 972878	NM_001009944.3(PKD1):c.11105A>C (p.Gln3702Pro)	PKD1, PKD1-AS1 (Q3701P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 972877	NM_001009944.3(PKD1):c.11712+1G>C	PKD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 972876	NM_001009944.3(PKD1):c.12004-2A>G	PKD1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 972875	NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)	PKD1 (Q1068*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 972874	NM_001009944.3(PKD1):c.5855G>A (p.Gly1952Asp)	PKD1 (G1952D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972873	NM_016306.6(DNAJB11):c.430G>T (p.Glu144Ter)	DNAJB11 (E144*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 972872	NM_000297.4(PKD2):c.1549-1G>A	PKD2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic
Select item 972871	NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg)	PKD1 (G1503R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GConflicting classifications of pathogenicity
Select item 972870	NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs)	PKD1 (A2332fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 972869	NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys)	PKD1 (R454C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 972868	NM_000297.4(PKD2):c.1039del (p.Val347fs)	PKD2 (V347fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 972867	NM_000297.4(PKD2):c.709+6T>G	PKD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 972866	NM_000297.4(PKD2):c.2807del (p.Asn936fs)	PKD2 (N936fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 972865	NM_001009944.3(PKD1):c.6229G>C (p.Ala2077Pro)	PKD1 (A2077P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972864	NM_001009944.3(PKD1):c.8543T>C (p.Val2848Ala)	PKD1 (V2848A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972863	NM_001009944.3(PKD1):c.3294_3295delinsTT (p.Gly1099Cys)	PKD1 (G1099C)	Indel (missense variant)	not provided	GUncertain significance
Select item 972862	NM_001009944.3(PKD1):c.3746del (p.Asp1249fs)	PKD1 (D1249fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 972861	NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter)	PKD1 (Q2751*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 972860	NM_198334.3(GANAB):c.850G>A (p.Val284Met)	GANAB (V187M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972859	NM_000458.4(HNF1B):c.516C>G (p.Tyr172Ter)	HNF1B (Y172*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 972858	NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter)	PKD1 (E1295*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 972857	NM_001009944.3(PKD1):c.3994G>A (p.Asp1332Asn)	PKD1 (D1332N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972856	NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu)	PKD1 (P2470L)	Single nucleotide variant (missense variant)	PKD1-related disorder +2 more	GUncertain significance
Select item 972855	NM_001009944.3(PKD1):c.3631G>T (p.Glu1211Ter)	PKD1 (E1211*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 972854	NM_001009944.3(PKD1):c.827_830del (p.Thr276fs)	PKD1 (T276fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 972853	NM_001009944.3(PKD1):c.1987del (p.Gln663fs)	PKD1 (Q663fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 972852	NM_001009944.3(PKD1):c.2096C>A (p.Ser699Ter)	PKD1 (S699*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 972851	NM_001009944.3(PKD1):c.10524del (p.Glu3509fs)	PKD1, PKD1-AS1 (E3508fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 972850	NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter)	PKD1 (E2548*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 972849	NM_001289104.2(PRKCSH):c.1411A>G (p.Lys471Glu)	PRKCSH (K461E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972848	NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs)	PKD1 (C767fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 972847	NM_001289104.2(PRKCSH):c.1281C>G (p.Thr427=)	PRKCSH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 972846	NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter)	PKD1 (Q3198*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic

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