PKD2L1[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 3213690	NM_016112.3(PKD2L1):c.2402C>T (p.Thr801Met)	PKD2L1 (T754M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 720318	NM_016112.3(PKD2L1):c.2387G>A (p.Arg796His)	PKD2L1 (R749H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3213689	NM_016112.3(PKD2L1):c.2380C>A (p.Leu794Ile)	PKD2L1 (L747I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529806	NM_016112.3(PKD2L1):c.2377A>G (p.Arg793Gly)	PKD2L1 (R793G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398886	NM_016112.3(PKD2L1):c.2327A>G (p.Gln776Arg)	PKD2L1 (Q776R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213688	NM_016112.3(PKD2L1):c.2317C>G (p.Gln773Glu)	PKD2L1 (Q773E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611829	NM_016112.3(PKD2L1):c.2299C>T (p.Pro767Ser)	PKD2L1 (P720S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213687	NM_016112.3(PKD2L1):c.2276C>T (p.Pro759Leu)	PKD2L1 (P712L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213686	NM_016112.3(PKD2L1):c.2243C>A (p.Pro748Gln)	PKD2L1 (P748Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405373	NM_016112.3(PKD2L1):c.2220G>T (p.Arg740Ser)	PKD2L1 (R693S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213685	NM_016112.3(PKD2L1):c.2202G>T (p.Lys734Asn)	PKD2L1 (K734N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213684	NM_016112.3(PKD2L1):c.2140G>T (p.Val714Phe)	PKD2L1 (V667F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716402	NM_016112.3(PKD2L1):c.2127-3C>T	PKD2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3213682	NM_016112.3(PKD2L1):c.2027T>C (p.Ile676Thr)	PKD2L1 (I676T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779120	NM_016112.3(PKD2L1):c.1973A>T (p.Gln658Leu)	PKD2L1 (Q658L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3213681	NM_016112.3(PKD2L1):c.1954A>C (p.Ile652Leu)	PKD2L1 (I605L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734157	NM_016112.3(PKD2L1):c.1951C>T (p.Arg651Cys)	PKD2L1 (R604C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2339147	NM_016112.3(PKD2L1):c.1865C>T (p.Thr622Ile)	PKD2L1 (T575I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240328	NM_016112.3(PKD2L1):c.1682A>G (p.Asn561Ser)	PKD2L1 (N561S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728116	NM_016112.3(PKD2L1):c.1665G>T (p.Met555Ile)	PKD2L1 (M508I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3213680	NM_016112.3(PKD2L1):c.1588G>T (p.Asp530Tyr)	PKD2L1 (D483Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323991	NM_016112.3(PKD2L1):c.1558A>C (p.Ile520Leu)	PKD2L1 (I520L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712587	NM_016112.3(PKD2L1):c.1554G>A (p.Arg518=)	PKD2L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2212449	NM_016112.3(PKD2L1):c.1528A>C (p.Ile510Leu)	PKD2L1 (I463L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213679	NM_016112.3(PKD2L1):c.1498G>A (p.Gly500Arg)	PKD2L1 (G500R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213678	NM_016112.3(PKD2L1):c.1486T>A (p.Tyr496Asn)	PKD2L1 (Y449N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404958	NM_016112.3(PKD2L1):c.1406C>T (p.Thr469Met)	PKD2L1 (T469M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207822	NM_016112.3(PKD2L1):c.1385C>T (p.Thr462Ile)	PKD2L1 (T462I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213677	NM_016112.3(PKD2L1):c.1370T>A (p.Ile457Asn)	PKD2L1 (I457N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788107	NM_016112.3(PKD2L1):c.1369A>G (p.Ile457Val)	PKD2L1 (I410V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 737065	NM_016112.3(PKD2L1):c.1356+8G>A	PKD2L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2382959	NM_016112.3(PKD2L1):c.1345G>A (p.Ala449Thr)	PKD2L1 (A402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213676	NM_016112.3(PKD2L1):c.1318A>C (p.Asn440His)	PKD2L1 (N440H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213675	NM_016112.3(PKD2L1):c.1271C>T (p.Thr424Met)	PKD2L1 (T377M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410318	NM_016112.3(PKD2L1):c.1238G>A (p.Arg413Gln)	PKD2L1 (R366Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785326	NM_016112.3(PKD2L1):c.1186-9G>C	PKD2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3213674	NM_016112.3(PKD2L1):c.1139G>A (p.Arg380His)	PKD2L1 (R333H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2209919	NM_016112.3(PKD2L1):c.1133G>A (p.Arg378Gln)	PKD2L1 (R331Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716668	NM_016112.3(PKD2L1):c.1056C>T (p.Ile352=)	PKD2L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2349116	NM_016112.3(PKD2L1):c.1010G>A (p.Arg337His)	PKD2L1 (R290H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279070	NM_016112.3(PKD2L1):c.983G>C (p.Gly328Ala)	PKD2L1 (G281A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480594	NM_016112.3(PKD2L1):c.932A>G (p.Asn311Ser)	PKD2L1 (N311S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716215	NM_016112.3(PKD2L1):c.906C>T (p.Phe302=)	PKD2L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3213694	NM_016112.3(PKD2L1):c.857G>A (p.Arg286Gln)	PKD2L1 (R239Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 768384	NM_016112.3(PKD2L1):c.819C>T (p.Asp273=)	PKD2L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2517867	NM_016112.3(PKD2L1):c.803G>A (p.Gly268Asp)	PKD2L1 (G221D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213693	NM_016112.3(PKD2L1):c.722A>G (p.Asn241Ser)	PKD2L1 (N194S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208858	NM_016112.3(PKD2L1):c.617G>A (p.Arg206His)	PKD2L1 (R159H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338485	NM_016112.3(PKD2L1):c.578T>C (p.Met193Thr)	PKD2L1 (M146T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716216	NM_016112.3(PKD2L1):c.567C>T (p.Tyr189=)	PKD2L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2335301	NM_016112.3(PKD2L1):c.562A>G (p.Ile188Val)	PKD2L1 (I188V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213691	NM_016112.3(PKD2L1):c.534G>C (p.Gln178His)	PKD2L1 (Q131H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615524	NM_016112.3(PKD2L1):c.367A>G (p.Ser123Gly)	PKD2L1 (S123G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779121	NM_016112.3(PKD2L1):c.349C>T (p.Leu117=)	PKD2L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2599220	NM_016112.3(PKD2L1):c.323T>C (p.Ile108Thr)	PKD2L1 (I108T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769786	NM_016112.3(PKD2L1):c.226G>T (p.Gly76Cys)	PKD2L1 (G76C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3213683	NM_016112.3(PKD2L1):c.211C>A (p.Leu71Ile)	PKD2L1 (L71I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2217489	NM_016112.3(PKD2L1):c.179C>T (p.Thr60Met)	PKD2L1 (T60M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217121	NM_016112.3(PKD2L1):c.128C>A (p.Thr43Lys)	PKD2L1 (T43K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2251143	NM_016112.3(PKD2L1):c.107G>A (p.Arg36Lys)	PKD2L1 (R36K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 161699	NM_016112.3(PKD2L1):c.70G>A (p.Ala24Thr)	PKD2L1 (A24T)	Single nucleotide variant (5 prime UTR variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 3213692	NM_016112.3(PKD2L1):c.53G>A (p.Gly18Glu)	PKD2L1 (G18E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 815373	GRCh37/hg19 10q24.31(chr10:101932457-102392841)x3	WNT8B, NDUFB8 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 79