Related gene-specific medical variations for Gene (Select 168507) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360524	NM_138295.5(PKD1L1):c.2425G>A (p.Asp809Asn)	PKD1L1 (D809N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359865	NM_138295.5(PKD1L1):c.5045A>C (p.Tyr1682Ser)	PKD1L1 (Y1682S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358294	NM_138295.5(PKD1L1):c.8156T>A (p.Ile2719Asn)	PKD1L1-AS1, PKD1L1 (I2719N)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 3358202	NM_138295.5(PKD1L1):c.7534A>G (p.Ile2512Val)	PKD1L1, PKD1L1-AS1 (I2512V)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 3356359	NM_138295.5(PKD1L1):c.7611C>T (p.His2537=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3355537	NM_138295.5(PKD1L1):c.7646G>A (p.Gly2549Asp)	PKD1L1, PKD1L1-AS1 (G2549D)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 3352612	NM_138295.5(PKD1L1):c.8221C>A (p.Gln2741Lys)	PKD1L1, PKD1L1-AS1 (Q2741K)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 3352335	NM_138295.5(PKD1L1):c.7346+5dup	PKD1L1, PKD1L1-AS1	Duplication (intron variant)	PKD1L1-related disorder	GUncertain significance
Select item 3350829	NM_138295.5(PKD1L1):c.7465G>A (p.Val2489Met)	PKD1L1, PKD1L1-AS1 (V2489M)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 3346145	NM_138295.5(PKD1L1):c.6986del (p.Gly2329fs)	PKD1L1, PKD1L1-AS1 (G2329fs)	Deletion (frameshift variant)	PKD1L1-related disorder	GLikely pathogenic
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 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 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 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 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 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, PKD1L1-AS1 (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 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 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 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 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 3057623	NM_138295.5(PKD1L1):c.8132G>A (p.Arg2711Gln)	PKD1L1, PKD1L1-AS1 (R2711Q)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	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 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 3054094	NM_138295.5(PKD1L1):c.8048C>G (p.Thr2683Arg)	PKD1L1, PKD1L1-AS1 (T2683R)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GLikely benign
Select item 3051831	NM_138295.5(PKD1L1):c.7371C>T (p.Ser2457=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3051206	NM_138295.5(PKD1L1):c.7935C>T (p.His2645=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3049057	NM_138295.5(PKD1L1):c.7052C>T (p.Pro2351Leu)	PKD1L1, PKD1L1-AS1 (P2351L)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GLikely benign
Select item 3047406	NM_138295.5(PKD1L1):c.8133G>T (p.Arg2711=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3046108	NM_138295.5(PKD1L1):c.7060A>G (p.Thr2354Ala)	PKD1L1, PKD1L1-AS1 (T2354A)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GLikely benign
Select item 3040302	NM_138295.5(PKD1L1):c.7706G>C (p.Ser2569Thr)	PKD1L1, PKD1L1-AS1 (S2569T)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GLikely benign
Select item 3040269	NM_138295.5(PKD1L1):c.7305T>C (p.Cys2435=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3036758	NM_138295.5(PKD1L1):c.7728C>A (p.Ser2576=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3036039	NM_138295.5(PKD1L1):c.7519G>A (p.Val2507Met)	PKD1L1, PKD1L1-AS1 (V2507M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032950	NM_138295.5(PKD1L1):c.7687-10G>C	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	PKD1L1-related disorder	GLikely benign
Select item 3032611	NM_138295.5(PKD1L1):c.7452A>G (p.Gln2484=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3032408	NM_138295.5(PKD1L1):c.7467G>T (p.Val2489=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3031020	NM_138295.5(PKD1L1):c.8194-3T>C	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	PKD1L1-related disorder	GLikely benign
Select item 3029463	NM_138295.5(PKD1L1):c.7047G>A (p.Leu2349=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3015739	NM_138295.5(PKD1L1):c.8138T>C (p.Met2713Thr)	PKD1L1, PKD1L1-AS1 (M2713T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3007364	NM_138295.5(PKD1L1):c.7728C>T (p.Ser2576=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3003073	NM_138295.5(PKD1L1):c.7647C>A (p.Gly2549=)	PKD1L1-AS1, PKD1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999401	NM_138295.5(PKD1L1):c.7125C>A (p.Gly2375=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908094	NM_138295.5(PKD1L1):c.7140G>T (p.Arg2380Ser)	PKD1L1, PKD1L1-AS1 (R2380S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2899629	NM_138295.5(PKD1L1):c.7590C>T (p.Phe2530=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894696	NM_138295.5(PKD1L1):c.8355C>T (p.His2785=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2860732	NM_138295.5(PKD1L1):c.7787G>T (p.Arg2596Leu)	PKD1L1, PKD1L1-AS1 (R2596L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2834278	NM_138295.5(PKD1L1):c.7090-13T>C	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825927	NM_138295.5(PKD1L1):c.7162C>G (p.His2388Asp)	PKD1L1, PKD1L1-AS1 (H2388D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2793224	NM_138295.5(PKD1L1):c.7090-17C>T	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744352	NM_138295.5(PKD1L1):c.7986C>T (p.Ala2662=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737662	NM_138295.5(PKD1L1):c.8209A>G (p.Met2737Val)	PKD1L1, PKD1L1-AS1 (M2737V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2690673	NM_138295.5(PKD1L1):c.6124del (p.His2042fs)	PKD1L1 (H2042fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 8, autosomal	GLikely pathogenic
Select item 2657456	NM_138295.5(PKD1L1):c.7809T>G (p.Leu2603=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636895	NM_138295.5(PKD1L1):c.7342A>T (p.Thr2448Ser)	PKD1L1, PKD1L1-AS1 (T2448S)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 2636613	NM_138295.5(PKD1L1):c.7053G>A (p.Pro2351=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GUncertain significance
Select item 2636016	NM_138295.5(PKD1L1):c.7687-2A>G	PKD1L1, PKD1L1-AS1	Single nucleotide variant (splice acceptor variant)	PKD1L1-related disorder	GLikely pathogenic
Select item 2634211	NM_138295.5(PKD1L1):c.7545C>A (p.Ser2515Arg)	PKD1L1, PKD1L1-AS1 (S2515R)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 2629252	NM_138295.5(PKD1L1):c.7838G>A (p.Trp2613Ter)	PKD1L1, PKD1L1-AS1 (W2613*)	Single nucleotide variant (nonsense)	PKD1L1-related disorder	GLikely pathogenic
Select item 2629222	NM_138295.5(PKD1L1):c.7916G>C (p.Cys2639Ser)	PKD1L1, PKD1L1-AS1 (C2639S)	Single nucleotide variant (missense variant)	PKD1L1-related disorder +1 more	GUncertain significance
Select item 2628881	NM_138295.5(PKD1L1):c.8342T>C (p.Met2781Thr)	PKD1L1, PKD1L1-AS1 (M2781T)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 2602615	NM_138295.5(PKD1L1):c.7361C>T (p.Thr2454Ile)	PKD1L1, PKD1L1-AS1 (T2454I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591531	NM_138295.5(PKD1L1):c.7990C>G (p.Leu2664Val)	PKD1L1, PKD1L1-AS1 (L2664V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579412	NM_138295.5(PKD1L1):c.7417T>C (p.Ser2473Pro)	PKD1L1, PKD1L1-AS1 (S2473P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574525	NM_138295.5(PKD1L1):c.8131C>T (p.Arg2711Trp)	PKD1L1, PKD1L1-AS1 (R2711W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545682	NM_138295.5(PKD1L1):c.8123C>G (p.Ser2708Cys)	PKD1L1-AS1, PKD1L1 (S2708C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540262	NM_138295.5(PKD1L1):c.7220G>A (p.Cys2407Tyr)	PKD1L1, PKD1L1-AS1 (C2407Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538154	NM_138295.5(PKD1L1):c.7730G>A (p.Gly2577Asp)	PKD1L1, PKD1L1-AS1 (G2577D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533262	NM_138295.5(PKD1L1):c.8018C>T (p.Ser2673Phe)	PKD1L1, PKD1L1-AS1 (S2673F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524125	NM_138295.5(PKD1L1):c.8006G>A (p.Arg2669Gln)	PKD1L1, PKD1L1-AS1 (R2669Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522460	NM_138295.5(PKD1L1):c.7508C>T (p.Pro2503Leu)	PKD1L1, PKD1L1-AS1 (P2503L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489392	NM_138295.5(PKD1L1):c.7147A>C (p.Lys2383Gln)	PKD1L1, PKD1L1-AS1 (K2383Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475359	NM_138295.5(PKD1L1):c.7409G>C (p.Arg2470Thr)	PKD1L1, PKD1L1-AS1 (R2470T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462584	NM_138295.5(PKD1L1):c.7844G>A (p.Arg2615Gln)	PKD1L1, PKD1L1-AS1 (R2615Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2441677	NM_138295.5(PKD1L1):c.3818G>T (p.Gly1273Val)	PKD1L1 (G1273V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 2434875	NM_138295.5(PKD1L1):c.6848C>T (p.Ala2283Val)	PKD1L1 (A2283V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 2434874	NM_138295.5(PKD1L1):c.2325_2326delinsAG (p.Arg776Gly)	PKD1L1 (R776G)	Indel (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 2434873	NM_138295.5(PKD1L1):c.8059C>T (p.Pro2687Ser)	PKD1L1, PKD1L1-AS1 (P2687S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 2434872	NM_138295.5(PKD1L1):c.1606C>T (p.Leu536=)	PKD1L1	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 2404218	NM_138295.5(PKD1L1):c.8246A>C (p.Lys2749Thr)	PKD1L1, PKD1L1-AS1 (K2749T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401502	NM_138295.5(PKD1L1):c.7648G>A (p.Val2550Ile)	PKD1L1, PKD1L1-AS1 (V2550I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395887	NM_138295.5(PKD1L1):c.8325G>T (p.Lys2775Asn)	PKD1L1, PKD1L1-AS1 (K2775N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359271	NM_138295.5(PKD1L1):c.7729G>A (p.Gly2577Ser)	PKD1L1, PKD1L1-AS1 (G2577S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2357517	NM_138295.5(PKD1L1):c.7637T>C (p.Met2546Thr)	PKD1L1, PKD1L1-AS1 (M2546T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338989	NM_138295.5(PKD1L1):c.7894A>G (p.Ile2632Val)	PKD1L1, PKD1L1-AS1 (I2632V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306214	NM_138295.5(PKD1L1):c.8025G>T (p.Trp2675Cys)	PKD1L1, PKD1L1-AS1 (W2675C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304493	NM_138295.5(PKD1L1):c.7031C>T (p.Thr2344Ile)	PKD1L1, PKD1L1-AS1 (T2344I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2292764	NM_138295.5(PKD1L1):c.7079C>T (p.Pro2360Leu)	PKD1L1, PKD1L1-AS1 (P2360L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283428	NM_138295.5(PKD1L1):c.7718A>G (p.Tyr2573Cys)	PKD1L1, PKD1L1-AS1 (Y2573C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2257006	NM_138295.5(PKD1L1):c.7535T>A (p.Ile2512Asn)	PKD1L1, PKD1L1-AS1 (I2512N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223269	NM_138295.5(PKD1L1):c.8144G>T (p.Cys2715Phe)	PKD1L1, PKD1L1-AS1 (C2715F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214608	NM_138295.5(PKD1L1):c.7966G>T (p.Val2656Leu)	PKD1L1, PKD1L1-AS1 (V2656L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182818	NM_138295.5(PKD1L1):c.8061C>T (p.Pro2687=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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