ClinVar for Gene (Select 168507) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338192	NM_138295.5(PKD1L1):c.1523-2A>G	PKD1L1	Single nucleotide variant (splice acceptor variant)	Autism	GUncertain significance
Select item 3336448	NM_138295.5(PKD1L1):c.3011del (p.Ala1004fs)	PKD1L1 (A1004fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 8, autosomal	GPathogenic
Select item 3306885	NM_138295.5(PKD1L1):c.971T>C (p.Met324Thr)	PKD1L1 (M324T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306884	NM_138295.5(PKD1L1):c.7043G>A (p.Gly2348Asp)	PKD1L1, PKD1L1-AS1 (G2348D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306883	NM_138295.5(PKD1L1):c.5861C>T (p.Thr1954Met)	PKD1L1 (T1954M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306882	NM_138295.5(PKD1L1):c.4674G>A (p.Met1558Ile)	PKD1L1 (M1558I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306881	NM_138295.5(PKD1L1):c.490G>T (p.Ala164Ser)	PKD1L1 (A164S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306879	NM_138295.5(PKD1L1):c.2773C>T (p.Pro925Ser)	PKD1L1 (P925S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306878	NM_138295.5(PKD1L1):c.7415T>C (p.Val2472Ala)	PKD1L1, PKD1L1-AS1 (V2472A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306877	NM_138295.5(PKD1L1):c.6578G>A (p.Gly2193Asp)	PKD1L1 (G2193D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306876	NM_138295.5(PKD1L1):c.7937C>T (p.Ser2646Leu)	PKD1L1, PKD1L1-AS1 (S2646L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306875	NM_138295.5(PKD1L1):c.1820G>A (p.Ser607Asn)	PKD1L1 (S607N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306874	NM_138295.5(PKD1L1):c.6787T>G (p.Ser2263Ala)	PKD1L1 (S2263A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306873	NM_138295.5(PKD1L1):c.2983G>A (p.Val995Met)	PKD1L1 (V995M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306872	NM_138295.5(PKD1L1):c.7858T>G (p.Phe2620Val)	PKD1L1, PKD1L1-AS1 (F2620V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306871	NM_138295.5(PKD1L1):c.5470A>G (p.Asn1824Asp)	PKD1L1 (N1824D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306870	NM_138295.5(PKD1L1):c.4571G>A (p.Gly1524Glu)	PKD1L1 (G1524E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306868	NM_138295.5(PKD1L1):c.8405A>G (p.Lys2802Arg)	PKD1L1 (K2802R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306867	NM_138295.5(PKD1L1):c.6223G>A (p.Ala2075Thr)	PKD1L1 (A2075T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306866	NM_138295.5(PKD1L1):c.1259A>G (p.Tyr420Cys)	PKD1L1 (Y420C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306865	NM_138295.5(PKD1L1):c.7840C>T (p.Leu2614Phe)	PKD1L1, PKD1L1-AS1 (L2614F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306864	NM_138295.5(PKD1L1):c.6851T>A (p.Leu2284Gln)	PKD1L1 (L2284Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306863	NM_138295.5(PKD1L1):c.3224G>A (p.Ser1075Asn)	PKD1L1 (S1075N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306862	NM_138295.5(PKD1L1):c.4056A>C (p.Leu1352Phe)	PKD1L1 (L1352F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306861	NM_138295.5(PKD1L1):c.3023C>A (p.Thr1008Asn)	PKD1L1 (T1008N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306860	NM_138295.5(PKD1L1):c.4243G>C (p.Val1415Leu)	PKD1L1 (V1415L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3306859	NM_138295.5(PKD1L1):c.8424C>G (p.Asp2808Glu)	PKD1L1 (D2808E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306858	NM_138295.5(PKD1L1):c.4508C>T (p.Ala1503Val)	PKD1L1 (A1503V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306857	NM_138295.5(PKD1L1):c.7135A>G (p.Ile2379Val)	PKD1L1, PKD1L1-AS1 (I2379V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306856	NM_138295.5(PKD1L1):c.6988G>A (p.Gly2330Ser)	PKD1L1, PKD1L1-AS1 (G2330S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306855	NM_138295.5(PKD1L1):c.7879G>A (p.Val2627Ile)	PKD1L1-AS1, PKD1L1 (V2627I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3306854	NM_138295.5(PKD1L1):c.7417T>A (p.Ser2473Thr)	PKD1L1, PKD1L1-AS1 (S2473T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306853	NM_138295.5(PKD1L1):c.5090G>A (p.Arg1697Lys)	PKD1L1 (R1697K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306852	NM_138295.5(PKD1L1):c.2249G>A (p.Gly750Glu)	PKD1L1 (G750E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257189	NM_138295.5(PKD1L1):c.4427A>G (p.Asn1476Ser)	PKD1L1 (N1476S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239604	NM_138295.5(PKD1L1):c.3919C>T (p.Leu1307Phe)	PKD1L1 (L1307F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239601	NM_138295.5(PKD1L1):c.1330G>C (p.Ala444Pro)	PKD1L1 (A444P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3213573	NM_138295.5(PKD1L1):c.8104C>T (p.Leu2702Phe)	PKD1L1, PKD1L1-AS1 (L2702F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3213572	NM_138295.5(PKD1L1):c.8062G>A (p.Gly2688Arg)	PKD1L1, PKD1L1-AS1 (G2688R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213570	NM_138295.5(PKD1L1):c.782C>T (p.Thr261Met)	PKD1L1 (T261M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3213569	NM_138295.5(PKD1L1):c.7429A>G (p.Thr2477Ala)	PKD1L1, PKD1L1-AS1 (T2477A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213568	NM_138295.5(PKD1L1):c.7087C>G (p.Gln2363Glu)	PKD1L1, PKD1L1-AS1 (Q2363E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213567	NM_138295.5(PKD1L1):c.7073G>A (p.Arg2358His)	PKD1L1, PKD1L1-AS1 (R2358H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213566	NM_138295.5(PKD1L1):c.698C>A (p.Pro233His)	PKD1L1 (P233H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213565	NM_138295.5(PKD1L1):c.641C>T (p.Thr214Met)	PKD1L1 (T214M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3213564	NM_138295.5(PKD1L1):c.6244G>T (p.Ala2082Ser)	PKD1L1 (A2082S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213563	NM_138295.5(PKD1L1):c.602C>T (p.Ala201Val)	PKD1L1 (A201V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213561	NM_138295.5(PKD1L1):c.5867G>A (p.Arg1956His)	PKD1L1 (R1956H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213560	NM_138295.5(PKD1L1):c.5553C>T (p.Ser1851=)	PKD1L1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3213559	NM_138295.5(PKD1L1):c.5416T>G (p.Phe1806Val)	PKD1L1 (F1806V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213558	NM_138295.5(PKD1L1):c.4843G>A (p.Val1615Ile)	PKD1L1 (V1615I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213557	NM_138295.5(PKD1L1):c.4414C>G (p.Leu1472Val)	PKD1L1 (L1472V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213556	NM_138295.5(PKD1L1):c.4322G>A (p.Arg1441Gln)	PKD1L1 (R1441Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213555	NM_138295.5(PKD1L1):c.4244T>G (p.Val1415Gly)	PKD1L1 (V1415G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213554	NM_138295.5(PKD1L1):c.4198C>T (p.Leu1400Phe)	PKD1L1 (L1400F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213553	NM_138295.5(PKD1L1):c.3734C>T (p.Thr1245Ile)	PKD1L1 (T1245I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213551	NM_138295.5(PKD1L1):c.3542G>C (p.Gly1181Ala)	PKD1L1 (G1181A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213549	NM_138295.5(PKD1L1):c.3076G>A (p.Ala1026Thr)	PKD1L1 (A1026T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213548	NM_138295.5(PKD1L1):c.2897C>T (p.Ser966Leu)	PKD1L1 (S966L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3213547	NM_138295.5(PKD1L1):c.2721C>G (p.Asn907Lys)	PKD1L1 (N907K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213545	NM_138295.5(PKD1L1):c.2231G>A (p.Ser744Asn)	PKD1L1 (S744N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213544	NM_138295.5(PKD1L1):c.2183C>G (p.Ser728Cys)	PKD1L1 (S728C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213543	NM_138295.5(PKD1L1):c.209G>A (p.Cys70Tyr)	PKD1L1 (C70Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213542	NM_138295.5(PKD1L1):c.1891G>A (p.Val631Ile)	PKD1L1 (V631I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3213541	NM_138295.5(PKD1L1):c.1793C>T (p.Ser598Phe)	PKD1L1 (S598F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213539	NM_138295.5(PKD1L1):c.167A>G (p.Tyr56Cys)	PKD1L1 (Y56C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3213538	NM_138295.5(PKD1L1):c.1679G>T (p.Ser560Ile)	PKD1L1 (S560I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213536	NM_138295.5(PKD1L1):c.100G>A (p.Asp34Asn)	PKD1L1 (D34N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075968	NM_138295.5(PKD1L1):c.7825C>T (p.Gln2609Ter)	PKD1L1, PKD1L1-AS1 (Q2609*)	Single nucleotide variant (nonsense)	Situs inversus	GLikely pathogenic
Select item 3075706	NM_138295.5(PKD1L1):c.8096_8105del (p.Lys2699fs)	PKD1L1, PKD1L1-AS1 (K2699fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 8, autosomal	GPathogenic
Select item 3064527	NM_138295.5(PKD1L1):c.7011G>A (p.Trp2337Ter)	PKD1L1, PKD1L1-AS1 (W2337*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 8, autosomal	GLikely pathogenic
Select item 3062364	NM_138295.5(PKD1L1):c.6549G>T (p.Gln2183His)	PKD1L1 (Q2183H)	Single nucleotide variant (missense variant)	Congenital chylothorax	GUncertain significance
Select item 3062363	NM_138295.5(PKD1L1):c.1543G>A (p.Gly515Arg)	PKD1L1 (G515R)	Single nucleotide variant (missense variant)	Congenital chylothorax	GUncertain significance
Select item 3061712	NM_138295.5(PKD1L1):c.6686C>G (p.Pro2229Arg)	PKD1L1 (P2229R)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 3061670	NM_138295.5(PKD1L1):c.3785-3C>T	PKD1L1	Single nucleotide variant (intron variant)	PKD1L1-related disorder	GLikely benign
Select item 3061458	NM_138295.5(PKD1L1):c.4647C>T (p.Asn1549=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3059870	NM_138295.5(PKD1L1):c.2649G>A (p.Leu883=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3058617	NM_138295.5(PKD1L1):c.1320G>A (p.Glu440=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3058487	NM_138295.5(PKD1L1):c.7227C>T (p.Pro2409=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3058250	NM_138295.5(PKD1L1):c.4408C>T (p.Arg1470Trp)	PKD1L1 (R1470W)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 3057885	NM_138295.5(PKD1L1):c.2433C>T (p.Asp811=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3057844	NM_138295.5(PKD1L1):c.4590+8C>T	PKD1L1	Single nucleotide variant (intron variant)	PKD1L1-related disorder	GLikely benign
Select item 3057713	NM_138295.5(PKD1L1):c.3664-8G>A	PKD1L1	Single nucleotide variant (intron variant)	PKD1L1-related disorder	GLikely benign
Select item 3057623	NM_138295.5(PKD1L1):c.8132G>A (p.Arg2711Gln)	PKD1L1, PKD1L1-AS1 (R2711Q)	Single nucleotide variant (missense variant)	PKD1L1-related disorder +1 more	GUncertain significance
Select item 3057449	NM_138295.5(PKD1L1):c.7878C>T (p.Cys2626=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3057068	NM_138295.5(PKD1L1):c.4383T>C (p.His1461=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3056391	NM_138295.5(PKD1L1):c.5366A>G (p.Glu1789Gly)	PKD1L1 (E1789G)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 3056055	NM_138295.5(PKD1L1):c.1692-7C>G	PKD1L1	Single nucleotide variant (intron variant)	PKD1L1-related disorder	GLikely benign
Select item 3055754	NM_138295.5(PKD1L1):c.618G>T (p.Thr206=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3055219	NM_138295.5(PKD1L1):c.2676-9A>G	PKD1L1	Single nucleotide variant (intron variant)	PKD1L1-related disorder	GLikely benign
Select item 3055035	NM_138295.5(PKD1L1):c.6171C>A (p.Arg2057=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3054974	NM_138295.5(PKD1L1):c.1058_1059del (p.Lys353fs)	PKD1L1 (K353fs)	Deletion (frameshift variant)	PKD1L1-related disorder	GLikely pathogenic
Select item 3054792	NM_138295.5(PKD1L1):c.8052C>T (p.Asp2684=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3054642	NM_138295.5(PKD1L1):c.978C>T (p.Phe326=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3054538	NM_138295.5(PKD1L1):c.2200G>A (p.Asp734Asn)	PKD1L1 (D734N)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GLikely benign
Select item 3054490	NM_138295.5(PKD1L1):c.4125G>A (p.Arg1375=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3054485	NM_138295.5(PKD1L1):c.5757C>T (p.Leu1919=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3054412	NM_138295.5(PKD1L1):c.1958T>G (p.Leu653Arg)	PKD1L1 (L653R)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 3054337	NM_138295.5(PKD1L1):c.5196G>A (p.Leu1732=)	PKD1L1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3054233	NM_138295.5(PKD1L1):c.161-8_161-7dup	PKD1L1	Duplication (intron variant)	PKD1L1-related disorder	GLikely benign

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