PKD1L2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 57099	GRCh38/hg38 16q23.2(chr16:79455147-81109328)x1	ARLNC1, ATMIN +59 more	Copy number loss	See cases	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 60058	GRCh38/hg38 16q23.2(chr16:80975821-81354743)x3	ATMIN, BCO1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 58252	GRCh38/hg38 16q23.2(chr16:81083563-81219270)x1	GCSH, LOC112486210 +3 more	Copy number loss	See cases	GUncertain significance
Select item 3250395	NM_052892.5(PKD1L2):c.6431C>G (p.Thr2144Ser)	PKD1L2 (T1462S +1 more)	Single nucleotide variant (missense variant +1 more)	Otosclerosis 4	GLikely pathogenic
Select item 3213630	NM_052892.5(PKD1L2):c.6032C>A (p.Pro2011Gln)	PKD1L2 (P2011Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205509	NM_052892.5(PKD1L2):c.5993C>T (p.Ala1998Val)	PKD1L2 (A1316V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306894	NM_052892.3(PKD1L2):c.5974C>G	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306909	NM_052892.3(PKD1L2):c.5969G>A	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2236323	NM_052892.5(PKD1L2):c.5902C>T (p.Pro1968Ser)	PKD1L2 (P1286S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233248	NM_052892.5(PKD1L2):c.5878C>A (p.Leu1960Ile)	PKD1L2 (L1278I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337617	NM_052892.5(PKD1L2):c.5872C>G (p.Leu1958Val)	PKD1L2 (L1958V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306908	NM_052892.3(PKD1L2):c.5842A>T	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306916	NM_052892.3(PKD1L2):c.5839C>G	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306918	NM_052892.3(PKD1L2):c.5831C>T	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2462121	NM_052892.5(PKD1L2):c.5803C>A (p.His1935Asn)	PKD1L2 (H1253N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208399	NM_052892.5(PKD1L2):c.5785G>A (p.Glu1929Lys)	PKD1L2 (E1247K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213629	NM_052892.5(PKD1L2):c.5765C>T (p.Pro1922Leu)	PKD1L2 (P1922L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213628	NM_052892.5(PKD1L2):c.5758T>C (p.Tyr1920His)	PKD1L2 (Y1238H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368725	NM_052892.5(PKD1L2):c.5751G>T (p.Arg1917Ser)	PKD1L2 (R1917S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345599	NM_052892.5(PKD1L2):c.5748C>A (p.Ser1916Arg)	PKD1L2 (S1234R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3306901	NM_052892.3(PKD1L2):c.5747G>T	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2234866	NM_052892.5(PKD1L2):c.5689C>G (p.Pro1897Ala)	PKD1L2 (P1215A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213626	NM_052892.5(PKD1L2):c.5668G>A (p.Glu1890Lys)	PKD1L2 (E1208K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475280	NM_052892.5(PKD1L2):c.5626G>C (p.Ala1876Pro)	PKD1L2 (A1194P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250053	NM_052892.5(PKD1L2):c.5605C>T (p.Pro1869Ser)	LOC112486210, PKD1L2 (P1869S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467978	NM_052892.5(PKD1L2):c.5585A>G (p.Glu1862Gly)	LOC112486210, PKD1L2 (E1180G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550458	NM_052892.5(PKD1L2):c.5572G>A (p.Val1858Ile)	LOC112486210, PKD1L2 (V1176I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276853	NM_052892.5(PKD1L2):c.5568G>A (p.Met1856Ile)	LOC112486210, PKD1L2 (M1856I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278110	NM_052892.5(PKD1L2):c.5538G>T (p.Arg1846Ser)	LOC112486210, PKD1L2 (R1846S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483046	NM_052892.5(PKD1L2):c.5524C>A (p.Leu1842Met)	LOC112486210, PKD1L2 (L1160M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405751	NM_052892.5(PKD1L2):c.5522G>A (p.Gly1841Asp)	LOC112486210, PKD1L2 (G1159D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394737	NM_052892.5(PKD1L2):c.5399C>A (p.Ala1800Glu)	PKD1L2 (A1800E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612058	NM_052892.5(PKD1L2):c.5080G>A (p.Val1694Ile)	PKD1L2 (V1012I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213625	NM_052892.5(PKD1L2):c.5077G>T (p.Asp1693Tyr)	PKD1L2 (D1011Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511685	NM_052892.5(PKD1L2):c.5068T>G (p.Leu1690Val)	PKD1L2 (L1008V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204192	NM_052892.5(PKD1L2):c.5017G>C (p.Ala1673Pro)	PKD1L2 (A991P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532003	NM_052892.5(PKD1L2):c.4997C>G (p.Ala1666Gly)	PKD1L2 (A984G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594349	NM_052892.5(PKD1L2):c.4978G>A (p.Val1660Ile)	PKD1L2 (V1660I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213624	NM_052892.5(PKD1L2):c.4943C>T (p.Thr1648Ile)	PKD1L2 (T1648I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213623	NM_052892.5(PKD1L2):c.4901A>T (p.Asn1634Ile)	PKD1L2 (N952I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213622	NM_052892.5(PKD1L2):c.4865A>G (p.Glu1622Gly)	PKD1L2 (E940G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213621	NM_052892.5(PKD1L2):c.4864G>A (p.Glu1622Lys)	PKD1L2 (E940K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213620	NM_052892.5(PKD1L2):c.4853G>A (p.Arg1618Gln)	PKD1L2 (R936Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474585	NM_052892.5(PKD1L2):c.4853G>C (p.Arg1618Pro)	PKD1L2 (R936P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213619	NM_052892.5(PKD1L2):c.4849C>T (p.Pro1617Ser)	PKD1L2 (P1617S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530302	NM_052892.5(PKD1L2):c.4751T>C (p.Ile1584Thr)	PKD1L2 (I1584T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268715	NM_052892.5(PKD1L2):c.4700T>C (p.Phe1567Ser)	PKD1L2 (F885S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218522	NM_052892.5(PKD1L2):c.4698G>A (p.Met1566Ile)	PKD1L2 (M1566I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380211	NM_052892.5(PKD1L2):c.4637G>A (p.Arg1546His)	PKD1L2 (R864H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212311	NM_052892.5(PKD1L2):c.4601C>T (p.Ser1534Leu)	PKD1L2 (S1534L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213618	NM_052892.5(PKD1L2):c.4593C>G (p.Ile1531Met)	PKD1L2 (I849M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495468	NM_052892.5(PKD1L2):c.4583A>T (p.Asp1528Val)	PKD1L2 (D846V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238015	NM_052892.5(PKD1L2):c.4570G>A (p.Ala1524Thr)	PKD1L2 (A842T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213616	NM_052892.5(PKD1L2):c.4547A>C (p.His1516Pro)	PKD1L2 (H1516P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372520	NM_052892.5(PKD1L2):c.4520C>T (p.Thr1507Met)	PKD1L2 (T1507M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467977	NM_052892.5(PKD1L2):c.4492G>A (p.Val1498Ile)	PKD1L2 (V1498I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213615	NM_052892.5(PKD1L2):c.4450T>C (p.Phe1484Leu)	PKD1L2 (F1484L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338791	NM_052892.5(PKD1L2):c.4439G>A (p.Arg1480Gln)	PKD1L2 (R798Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350517	NM_052892.5(PKD1L2):c.4438C>T (p.Arg1480Trp)	PKD1L2 (R798W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256024	NM_052892.5(PKD1L2):c.4438C>G (p.Arg1480Gly)	PKD1L2 (R1480G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388927	NM_052892.5(PKD1L2):c.4402G>A (p.Val1468Met)	PKD1L2 (V1468M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149811	GRCh38/hg38 16q23.2(chr16:81153520-81228677)x1	PKD1L2	Copy number loss	See cases	GLikely benign
Select item 2568740	NM_052892.5(PKD1L2):c.4388G>A (p.Arg1463Gln)	PKD1L2 (R781Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311915	NM_052892.5(PKD1L2):c.4384G>C (p.Asp1462His)	PKD1L2 (D1462H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306907	NM_052892.3(PKD1L2):c.4365C>G	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3213614	NM_052892.5(PKD1L2):c.4352G>A (p.Arg1451Gln)	PKD1L2 (R769Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3213613	NM_052892.5(PKD1L2):c.4255G>A (p.Glu1419Lys)	PKD1L2 (E1419K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251499	NM_052892.5(PKD1L2):c.4216A>G (p.Lys1406Glu)	PKD1L2 (K1406E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487308	NM_052892.5(PKD1L2):c.4214C>T (p.Ser1405Leu)	PKD1L2 (S723L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554348	NM_052892.5(PKD1L2):c.4142A>G (p.Asn1381Ser)	PKD1L2 (N1381S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591380	NM_052892.5(PKD1L2):c.4117G>A (p.Val1373Met)	PKD1L2 (V691M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357505	NM_052892.5(PKD1L2):c.4094A>G (p.Lys1365Arg)	PKD1L2 (K683R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467976	NM_052892.5(PKD1L2):c.4066G>A (p.Val1356Met)	PKD1L2 (V674M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213612	NM_052892.5(PKD1L2):c.4060G>T (p.Val1354Phe)	PKD1L2 (V672F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371962	NM_052892.5(PKD1L2):c.4033G>A (p.Val1345Met)	PKD1L2 (V1345M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352577	NM_052892.5(PKD1L2):c.3946G>A (p.Gly1316Arg)	PKD1L2 (G634R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213610	NM_052892.5(PKD1L2):c.3931C>T (p.His1311Tyr)	PKD1L2 (H1311Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213609	NM_052892.5(PKD1L2):c.3895C>T (p.Arg1299Trp)	PKD1L2 (R1299W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520250	NM_052892.5(PKD1L2):c.3886G>A (p.Val1296Met)	PKD1L2 (V1296M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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