"Department of Pathology and Laboratory Medicine, Sinai Health System" - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997305	NM_000297.4(PKD2):c.-14C>A	LOC129992813, PKD2	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic kidney disease	GLikely benign
Select item 903899	NM_000297.4(PKD2):c.9C>T (p.Asn3=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +2 more	GConflicting classifications of pathogenicity
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 997320	NM_000297.4(PKD2):c.152del (p.Gly51fs)	LOC129992813, PKD2 (G51fs)	Deletion (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 997246	NM_000297.4(PKD2):c.155T>C (p.Leu52Pro)	LOC129992813, PKD2 (L52P)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease	GUncertain significance
Select item 636465	NM_000297.4(PKD2):c.181C>T (p.Gln61Ter)	LOC129992813, PKD2 (Q61*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 193079	NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)	LOC129992813, PKD2	Microsatellite (inframe_insertion +1 more)	not specified +4 more	GBenign/Likely benign
Select item 350014	NM_000297.4(PKD2):c.356G>A (p.Arg119His)	LOC129992813, PKD2 (R119H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 434012	NM_000297.4(PKD2):c.361G>T (p.Gly121Cys)	LOC129992813, PKD2 (G121C)	Single nucleotide variant (missense variant +1 more)	PKD2-related condition +2 more	GConflicting classifications of pathogenicity
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 997139	NM_000297.4(PKD2):c.423dup (p.Gly142fs)	LOC129992813, PKD2 (G142fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease	GPathogenic
Select item 255794	NM_000297.4(PKD2):c.444C>T (p.Gly148=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 997194	NM_000297.4(PKD2):c.488C>G (p.Pro163Arg)	LOC129992813, PKD2 (P163R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease	GUncertain significance
Select item 997216	NM_000297.4(PKD2):c.567G>A (p.Trp189Ter)	LOC129992813, PKD2 (W189*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 92796	NM_000297.4(PKD2):c.568G>A (p.Ala190Thr)	LOC129992813, PKD2 (A190T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 997357	NM_000297.4(PKD2):c.586G>A (p.Gly196Arg)	LOC129992813, PKD2 (G196R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease	GUncertain significance
Select item 440151	NM_000297.4(PKD2):c.595+15C>T	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 255796	NM_000297.4(PKD2):c.596-16C>T	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +2 more	GBenign
Select item 997401	NM_000297.4(PKD2):c.642_643dup (p.Lys215fs)	PKD2 (K215fs)	Microsatellite (frameshift variant +1 more)	Polycystic kidney disease	GPathogenic
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 997106	NM_000297.4(PKD2):c.662del (p.Leu221fs)	PKD2 (L221fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease	GPathogenic
Select item 434013	NM_000297.4(PKD2):c.670del (p.Leu224fs)	PKD2 (L224fs)	Deletion (frameshift variant +1 more)	Autosomal recessive polycystic kidney disease	GPathogenic
Select item 92797	NM_000297.4(PKD2):c.709+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 997245	NM_000297.4(PKD2):c.710-10T>G	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 997336	NM_000297.4(PKD2):c.710-3C>G	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease	GUncertain significance
Select item 997268	NM_000297.4(PKD2):c.711G>C (p.Leu237Phe)	PKD2 (L237F)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease	GUncertain significance
Select item 811568	NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter)	PKD2 (Y247*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 287394	NM_000297.4(PKD2):c.784G>A (p.Val262Met)	PKD2 (V262M)	Single nucleotide variant (missense variant +1 more)	PKD2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 997217	NM_000297.4(PKD2):c.843+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GPathogenic
Select item 997288	NM_000297.4(PKD2):c.843+6T>C	PKD2	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 997239	NM_000297.4(PKD2):c.844-2A>G	PKD2	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease	GPathogenic
Select item 997112	NM_000297.4(PKD2):c.848_849dup (p.Glu284fs)	PKD2 (E284fs)	Microsatellite (frameshift variant +1 more)	Polycystic kidney disease	GPathogenic
Select item 997382	NM_000297.4(PKD2):c.860_861insG (p.Leu288fs)	PKD2 (L288fs)	Insertion (frameshift variant +1 more)	Polycystic kidney disease	GPathogenic
Select item 997284	NM_000297.4(PKD2):c.875A>C (p.Tyr292Ser)	PKD2 (Y292S)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease	GUncertain significance
Select item 997233	NM_000297.4(PKD2):c.900G>C (p.Gln300His)	PKD2 (Q300H)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease	GUncertain significance
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 997290	NM_000297.4(PKD2):c.954T>C (p.Val318=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease	GUncertain significance
Select item 562318	NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)	PKD2 (R320*)	Single nucleotide variant (nonsense +1 more)	not provided +3 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 636770	NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)	PKD2 (R361*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 997171	NM_000297.4(PKD2):c.1094+1G>C	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease	GPathogenic
Select item 434014	NM_000297.4(PKD2):c.1094+3_1094+6del	PKD2	Deletion (splice donor variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 280008	NM_000297.4(PKD2):c.1094+1G>A	PKD2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 997111	NM_000297.4(PKD2):c.1176T>A (p.Tyr392Ter)	PKD2 (Y392*)	Single nucleotide variant (nonsense +1 more)	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 997152	NM_000297.4(PKD2):c.1262C>A (p.Ala421Glu)	PKD2 (A421E)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease	GUncertain significance
Select item 430967	NM_000297.4(PKD2):c.1319+1G>A	PKD2	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 997173	NM_000297.4(PKD2):c.1322dup (p.Leu441fs)	PKD2 (L441fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease	GPathogenic
Select item 350022	NM_000297.4(PKD2):c.1354A>G (p.Ile452Val)	PKD2 (I452V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GBenign/Likely benign
Select item 92792	NM_000297.4(PKD2):c.1359A>G (p.Pro453=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 13521	NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)	PKD2 (R464*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 974543	NM_000297.4(PKD2):c.1445del (p.Phe482fs)	PKD2 (F482fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 219481	NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)	PKD2 (F482C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 237628	NM_000297.4(PKD2):c.1546G>T (p.Val516Leu)	PKD2 (V516L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 255789	NM_000297.4(PKD2):c.1548+9G>C	PKD2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 997138	NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter)	PKD2 (Q537*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 997214	NM_000297.4(PKD2):c.1662G>A (p.Trp554Ter)	PKD2 (W554*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease	GPathogenic
Select item 997403	NM_000297.4(PKD2):c.1663C>T (p.Gln555Ter)	PKD2 (Q555*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease	GPathogenic
Select item 997242	NM_000297.4(PKD2):c.1704dup (p.Val569fs)	PKD2 (V569fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease	GPathogenic
Select item 997234	NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu)	PKD2 (W570L)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 997114	NM_000297.4(PKD2):c.1716+2T>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GPathogenic
Select item 477625	NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)	PKD2 (R592*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic
Select item 997109	NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del)	PKD2 (F605del)	Microsatellite (inframe_deletion +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 255791	NM_000297.4(PKD2):c.1830G>A (p.Ala610=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 997108	NM_000297.4(PKD2):c.1868_1872del (p.Val623fs)	PKD2 (V623fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease	GPathogenic
Select item 448033	NM_000297.4(PKD2):c.1898+5G>A	PKD2	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 997340	NM_000297.4(PKD2):c.1986del (p.Thr663fs)	PKD2 (T663fs)	Deletion (frameshift variant)	Polycystic kidney disease	GPathogenic
Select item 997110	NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs)	PKD2 (F666fs)	Deletion (frameshift variant)	Polycystic kidney disease 2	GPathogenic
Select item 997238	NM_000297.4(PKD2):c.2020-14T>C	PKD2	Single nucleotide variant (intron variant)	Polycystic kidney disease	GLikely benign
Select item 449307	NM_000297.4(PKD2):c.2020-1_2020del	PKD2	Deletion (splice acceptor variant)	Polycystic kidney disease 2 +2 more	GPathogenic/Likely pathogenic
Select item 543949	NM_000297.4(PKD2):c.2134T>C (p.Leu712=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 350025	NM_000297.4(PKD2):c.2139C>T (p.Val713=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GBenign/Likely benign
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 618322	NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)	PKD2	Deletion (inframe_deletion +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 997262	NM_000297.4(PKD2):c.2218G>T (p.Glu740Ter)	PKD2 (E740*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease	GPathogenic
Select item 872745	NM_000297.4(PKD2):c.2240+1G>C	PKD2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 997311	NM_000297.4(PKD2):c.2286C>G (p.Tyr762Ter)	PKD2 (Y762*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease	GPathogenic
Select item 1049779	NM_000297.4(PKD2):c.2318A>G (p.His773Arg)	PKD2 (H773R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 997283	NM_000297.4(PKD2):c.2391A>C (p.Pro797=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +2 more	GLikely benign
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 289403	NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)	PKD2 (S804N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
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 997249	NM_000297.4(PKD2):c.2525T>G (p.Leu842Arg)	PKD2 (L842R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease	GUncertain significance
Select item 586314	NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)	PKD2	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 523770	NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)	PKD2 (R845*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic
Select item 448036	NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)	PKD2 (R872*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2 +2 more	GPathogenic
Select item 350031	NM_000297.4(PKD2):c.2814A>G (p.Gln938=)	PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GBenign/Likely benign

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Items: 88