ClinVar for Gene (Select 114780) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306918	NM_052892.3(PKD1L2):c.5831C>T	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306917	NM_052892.3(PKD1L2):c.2025T>A	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 3306915	NM_052892.3(PKD1L2):c.2700G>T	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306914	NM_052892.3(PKD1L2):c.2608G>A	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306913	NM_052892.3(PKD1L2):c.3556A>G	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306912	NM_052892.3(PKD1L2):c.401G>C	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306911	NM_052892.3(PKD1L2):c.604C>A	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 3306908	NM_052892.3(PKD1L2):c.5842A>T	PKD1L2	Single nucleotide variant (non-coding transcript 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 3306906	NM_052892.3(PKD1L2):c.1739C>T	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306905	NM_052892.3(PKD1L2):c.2031C>G	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306904	NM_052892.3(PKD1L2):c.497A>T	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306903	NM_052892.3(PKD1L2):c.3404C>G	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306902	NM_052892.3(PKD1L2):c.2125C>T	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306901	NM_052892.3(PKD1L2):c.5747G>T	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306900	NM_052892.3(PKD1L2):c.3443T>C	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306898	NM_052892.3(PKD1L2):c.1233C>G	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306897	NM_052892.3(PKD1L2):c.1771C>T	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306896	NM_052892.3(PKD1L2):c.1945G>A	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306895	NM_052892.3(PKD1L2):c.1286C>G	PKD1L2	Single nucleotide variant (non-coding transcript 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 3306893	NM_052892.3(PKD1L2):c.2413G>A	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306892	NM_052892.3(PKD1L2):c.1540G>A	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306891	NM_052892.3(PKD1L2):c.3487C>T	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306889	NM_052892.3(PKD1L2):c.995C>G	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306888	NM_052892.3(PKD1L2):c.2948C>T	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306887	NM_052892.3(PKD1L2):c.3582G>C	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3306886	NM_052892.3(PKD1L2):c.3322G>A	PKD1L2	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
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 3243515	NC_000016.9:g.(?_78420737)_(81991603_?)del	ATMIN, BCO1 +12 more	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 3243510	NC_000016.9:g.(?_81116471)_(81991603_?)dup	CMIP, GAN +4 more	Duplication	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3213634	NM_052892.5(PKD1L2):c.902C>T (p.Pro301Leu)	PKD1L2 (P301L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213633	NM_052892.5(PKD1L2):c.811A>G (p.Ile271Val)	PKD1L2 (I271V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213631	NM_052892.5(PKD1L2):c.679G>T (p.Val227Leu)	PKD1L2 (V227L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3213627	NM_052892.5(PKD1L2):c.574T>G (p.Cys192Gly)	PKD1L2 (C192G)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 3213617	NM_052892.5(PKD1L2):c.457G>A (p.Glu153Lys)	PKD1L2 (E153K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 3213611	NM_052892.5(PKD1L2):c.403C>G (p.Pro135Ala)	PKD1L2 (P135A)	Single nucleotide variant (missense variant +1 more)	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 3213607	NM_052892.5(PKD1L2):c.3877G>C (p.Gly1293Arg)	PKD1L2 (G1293R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213606	NM_052892.5(PKD1L2):c.3758C>T (p.Thr1253Ile)	PKD1L2 (T1253I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213605	NM_052892.5(PKD1L2):c.3601A>G (p.Ile1201Val)	PKD1L2 (I519V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213603	NM_052892.5(PKD1L2):c.3457G>C (p.Glu1153Gln)	PKD1L2 (E1153Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213602	NM_052892.5(PKD1L2):c.3410G>A (p.Arg1137His)	PKD1L2 (R455H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213601	NM_052892.5(PKD1L2):c.3295C>G (p.Leu1099Val)	PKD1L2 (L1099V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213600	NM_052892.5(PKD1L2):c.3000G>C (p.Arg1000Ser)	PKD1L2 (R318S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213599	NM_052892.5(PKD1L2):c.293C>T (p.Thr98Ile)	PKD1L2 (T98I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213597	NM_052892.5(PKD1L2):c.2729A>G (p.Gln910Arg)	PKD1L2 (Q228R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213596	NM_052892.5(PKD1L2):c.2668G>A (p.Glu890Lys)	PKD1L2 (E208K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3213595	NM_052892.5(PKD1L2):c.2623G>T (p.Val875Leu)	PKD1L2 (V875L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213594	NM_052892.5(PKD1L2):c.2623G>C (p.Val875Leu)	PKD1L2 (V875L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213593	NM_052892.5(PKD1L2):c.2534A>G (p.Asn845Ser)	PKD1L2 (N163S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213592	NM_052892.5(PKD1L2):c.2482C>G (p.Leu828Val)	PKD1L2 (L146V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213591	NM_052892.5(PKD1L2):c.2365G>C (p.Ala789Pro)	PKD1L2 (A107P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213590	NM_052892.5(PKD1L2):c.2329A>G (p.Ile777Val)	PKD1L2 (I777V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3213588	NM_052892.5(PKD1L2):c.2309G>A (p.Arg770His)	PKD1L2 (R88H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213587	NM_052892.5(PKD1L2):c.2225G>T (p.Gly742Val)	PKD1L2 (G742V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213586	NM_052892.5(PKD1L2):c.2222G>C (p.Arg741Pro)	PKD1L2 (R741P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213585	NM_052892.5(PKD1L2):c.2153C>A (p.Pro718Gln)	PKD1L2 (P718Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213584	NM_052892.5(PKD1L2):c.2096C>T (p.Thr699Ile)	PKD1L2 (T699I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213583	NM_052892.5(PKD1L2):c.2036T>C (p.Leu679Pro)	PKD1L2 (L679P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3213582	NM_052892.5(PKD1L2):c.1829G>T (p.Arg610Leu)	PKD1L2 (R610L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213581	NM_052892.5(PKD1L2):c.159G>C (p.Gln53His)	PKD1L2 (Q53H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213580	NM_052892.5(PKD1L2):c.1538C>A (p.Thr513Asn)	PKD1L2 (T513N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213579	NM_052892.5(PKD1L2):c.1474C>G (p.His492Asp)	PKD1L2 (H492D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213578	NM_052892.5(PKD1L2):c.1337T>C (p.Leu446Pro)	PKD1L2 (L446P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3213577	NM_052892.5(PKD1L2):c.130C>G (p.Pro44Ala)	PKD1L2 (P44A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213576	NM_052892.5(PKD1L2):c.1166T>G (p.Ile389Arg)	PKD1L2 (I389R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213575	NM_052892.5(PKD1L2):c.1075C>G (p.Leu359Val)	PKD1L2 (L359V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067182	NM_052892.5(PKD1L2):c.1176C>A (p.Ala392=)	PKD1L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3063447	GRCh37/hg19 16q23.2(chr16:80986532-81647826)x3	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2788471	NM_052892.5(PKD1L2):c.3098T>C (p.Leu1033Pro)	PKD1L2 (L1033P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2685579	GRCh37/hg19 16q23.2(chr16:81002550-81217672)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685578	GRCh37/hg19 16q23.2(chr16:80905025-81177989)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684821	GRCh37/hg19 16q23.2(chr16:80891387-81346417)x3	ATMIN, BCO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	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 2621311	NM_052892.5(PKD1L2):c.1538C>T (p.Thr513Ile)	PKD1L2 (T513I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620854	NM_052892.5(PKD1L2):c.3721C>G (p.Gln1241Glu)	PKD1L2 (Q559E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2619683	NM_052892.5(PKD1L2):c.1514G>A (p.Arg505His)	PKD1L2 (R505H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2618478	NM_052892.5(PKD1L2):c.2476C>G (p.Leu826Val)	PKD1L2 (L144V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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