ClinVar for Gene (Select 105371049) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068369	NM_001009944.3(PKD1):c.11002_11003dup (p.Gly3669fs)	PKD1, PKD1-AS1 (G3668fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068361	NM_001009944.3(PKD1):c.10846_10847dup (p.Leu3617fs)	PKD1, PKD1-AS1 (L3616fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068344	NM_001009944.3(PKD1):c.10670T>G (p.Leu3557Arg)	PKD1, PKD1-AS1 (L3556R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066374	NM_001009944.3(PKD1):c.10720G>C (p.Gly3574Arg)	PKD1, PKD1-AS1 (G3573R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066321	NM_001009944.3(PKD1):c.11650del (p.Ser3884fs)	PKD1, PKD1-AS1 (S3883fs +1 more)	Deletion (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066301	NM_001009944.3(PKD1):c.10615_10618+1del	PKD1, PKD1-AS1	Deletion (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066291	NM_001009944.3(PKD1):c.11098C>T (p.Arg3700Cys)	PKD1, PKD1-AS1 (R3699C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066270	NM_001009944.3(PKD1):c.10961_10982del (p.Leu3654fs)	PKD1, PKD1-AS1 (L3653fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066239	NM_001009944.3(PKD1):c.11557G>A (p.Glu3853Lys)	PKD1, PKD1-AS1 (E3852K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066233	NM_001009944.3(PKD1):c.11642C>A (p.Ala3881Asp)	PKD1, PKD1-AS1 (A3880D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066205	NM_001009944.3(PKD1):c.11152_11153del (p.Thr3718fs)	PKD1, PKD1-AS1 (T3717fs +1 more)	Deletion (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066166	NM_001009944.3(PKD1):c.11150T>G (p.Ile3717Ser)	PKD1, PKD1-AS1 (I3716S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066144	NM_001009944.3(PKD1):c.11023del (p.Leu3675fs)	PKD1, PKD1-AS1 (L3674fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3061624	NM_001009944.3(PKD1):c.11017-6C>G	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	PKD1-related condition	GUncertain significance
Select item 3061316	NM_001009944.3(PKD1):c.11426G>A (p.Gly3809Asp)	PKD1, PKD1-AS1 (G3808D +1 more)	Single nucleotide variant (missense variant)	PKD1-related condition	GUncertain significance
Select item 3061139	NM_001009944.3(PKD1):c.10990G>A (p.Val3664Ile)	PKD1, PKD1-AS1 (V3663I +1 more)	Single nucleotide variant (missense variant)	PKD1-related condition	GUncertain significance
Select item 3054822	NM_001009944.3(PKD1):c.11473C>T (p.Leu3825=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	PKD1-related condition	GLikely benign
Select item 3047488	NM_001009944.3(PKD1):c.11592C>T (p.His3864=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related condition	GLikely benign
Select item 3046984	NM_001009944.3(PKD1):c.11139C>T (p.Ala3713=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related condition	GLikely benign
Select item 3046721	NM_001009944.3(PKD1):c.10692C>T (p.Leu3564=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	PKD1-related condition	GLikely benign
Select item 3042176	NM_001009944.3(PKD1):c.11541C>T (p.Ser3847=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related condition	GLikely benign
Select item 3037303	NM_001009944.3(PKD1):c.10966del (p.Leu3656fs)	PKD1, PKD1-AS1 (L3655fs +1 more)	Deletion (frameshift variant)	PKD1-related condition	GPathogenic
Select item 3032343	NM_001009944.3(PKD1):c.11677C>T (p.Leu3893Phe)	PKD1, PKD1-AS1 (L3892F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related condition	GUncertain significance
Select item 3031847	NM_001009944.3(PKD1):c.11205C>G (p.Val3735=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	PKD1-related condition	GLikely benign
Select item 3031590	NM_001009944.3(PKD1):c.11386dup (p.Ala3796fs)	PKD1, PKD1-AS1 (A3795fs +1 more)	Duplication (frameshift variant)	PKD1-related condition	GPathogenic
Select item 3029190	NM_001009944.3(PKD1):c.10690C>T (p.Leu3564Phe)	PKD1, PKD1-AS1 (L3563F +1 more)	Single nucleotide variant (missense variant)	PKD1-related condition	GUncertain significance
Select item 2692344	NM_001009944.3(PKD1):c.11412-7_11468del	PKD1, PKD1-AS1	Deletion (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2692306	NM_001009944.3(PKD1):c.10822-30_10852del	PKD1, PKD1-AS1	Deletion (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2691266	NM_001009944.3(PKD1):c.11344_11366dup (p.His3789fs)	PKD1-AS1, PKD1 (H3788fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2691262	NM_001009944.3(PKD1):c.11519A>C (p.His3840Pro)	PKD1, PKD1-AS1 (H3839P +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2683939	NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp)	PKD1, PKD1-AS1	Microsatellite (inframe_insertion)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2663727	NM_001009944.3(PKD1):c.11385G>T (p.Trp3795Cys)	PKD1, PKD1-AS1 (W3794C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645988	NM_001009944.3(PKD1):c.11187C>A (p.His3729Gln)	PKD1, PKD1-AS1 (H3728Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645987	NM_001009944.3(PKD1):c.11319A>G (p.Ala3773=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645986	NM_001009944.3(PKD1):c.11397G>A (p.Ala3799=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645985	NM_001009944.3(PKD1):c.11406G>A (p.Leu3802=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645984	NM_001009944.3(PKD1):c.11538-32C>T	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2645983	NM_001009944.3(PKD1):c.11654T>G (p.Val3885Gly)	PKD1, PKD1-AS1 (V3884G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2645982	NM_001009944.3(PKD1):c.11689C>T (p.Leu3897Phe)	PKD1, PKD1-AS1 (L3896F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2635201	NM_001009944.3(PKD1):c.10904C>A (p.Ala3635Asp)	PKD1, PKD1-AS1 (A3634D +1 more)	Single nucleotide variant (missense variant)	PKD1-related condition	GUncertain significance
Select item 2633625	NM_001009944.3(PKD1):c.10969G>A (p.Ala3657Thr)	PKD1, PKD1-AS1 (A3656T +1 more)	Single nucleotide variant (missense variant)	PKD1-related condition	GUncertain significance
Select item 2633061	NM_001009944.3(PKD1):c.11552_11557del (p.Phe3851_Glu3853delinsTer)	PKD1, PKD1-AS1	Deletion (nonsense +1 more)	PKD1-related condition	GPathogenic
Select item 2632584	NM_001009944.3(PKD1):c.10619-2A>G	PKD1, PKD1-AS1	Single nucleotide variant (splice acceptor variant)	PKD1-related condition	GPathogenic
Select item 2632563	NM_001009944.3(PKD1):c.10871C>T (p.Pro3624Leu)	PKD1, PKD1-AS1 (P3623L +1 more)	Single nucleotide variant (missense variant)	PKD1-related condition	GUncertain significance
Select item 2632243	NM_001009944.3(PKD1):c.11235dup (p.Pro3746fs)	PKD1, PKD1-AS1 (P3745fs +1 more)	Duplication (frameshift variant)	PKD1-related condition	GPathogenic
Select item 2631710	NM_001009944.3(PKD1):c.11248C>T (p.Arg3750Trp)	PKD1, PKD1-AS1 (R3749W +1 more)	Single nucleotide variant (missense variant)	PKD1-related condition	GUncertain significance
Select item 2631708	NM_001009944.3(PKD1):c.11099_11101dup (p.Arg3700_Leu3701insArg)	PKD1, PKD1-AS1	Duplication (non-coding transcript variant +2 more)	PKD1-related condition	GUncertain significance
Select item 2631604	NM_001009944.3(PKD1):c.11270-25_11316del	PKD1, PKD1-AS1	Deletion (splice acceptor variant)	PKD1-related condition	GPathogenic
Select item 2631176	NM_001009944.3(PKD1):c.11036T>A (p.Leu3679His)	PKD1, PKD1-AS1 (L3678H +1 more)	Single nucleotide variant (missense variant)	PKD1-related condition	GUncertain significance
Select item 2630565	NM_001009944.3(PKD1):c.11425G>C (p.Gly3809Arg)	PKD1, PKD1-AS1 (G3808R +1 more)	Single nucleotide variant (missense variant)	PKD1-related condition	GUncertain significance
Select item 2629773	NM_001009944.3(PKD1):c.11677C>G (p.Leu3893Val)	PKD1, PKD1-AS1 (L3892V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related condition	GUncertain significance
Select item 2629028	NM_001009944.3(PKD1):c.11396C>T (p.Ala3799Val)	PKD1, PKD1-AS1 (A3798V +1 more)	Single nucleotide variant (missense variant)	PKD1-related condition	GUncertain significance
Select item 2602953	NM_001009944.3(PKD1):c.10530G>A (p.Thr3510=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2596886	NM_001009944.3(PKD1):c.11347G>C (p.Val3783Leu)	PKD1, PKD1-AS1 (V3782L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578419	NM_001009944.3(PKD1):c.11411+4A>G	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2577461	NM_001009944.3(PKD1):c.11633_11646del (p.Arg3878fs)	PKD1, PKD1-AS1 (R3877fs +1 more)	Deletion (frameshift variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 2577439	NM_001009944.3(PKD1):c.11315_11321del (p.Ala3772fs)	PKD1, PKD1-AS1 (A3771fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2577415	NM_001009944.3(PKD1):c.11488_11489del (p.Ser3830fs)	PKD1, PKD1-AS1 (S3829fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2574723	NM_001009944.3(PKD1):c.11385G>A (p.Trp3795Ter)	PKD1, PKD1-AS1 (W3794* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2556185	NM_001009944.3(PKD1):c.11623G>A (p.Ala3875Thr)	PKD1, PKD1-AS1 (A3874T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549632	NM_001009944.3(PKD1):c.11344G>A (p.Asp3782Asn)	PKD1, PKD1-AS1 (D3781N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538916	NM_001009944.3(PKD1):c.10801C>T (p.Leu3601Phe)	PKD1, PKD1-AS1 (L3600F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538706	NM_001009944.3(PKD1):c.10910C>T (p.Thr3637Met)	PKD1, PKD1-AS1 (T3636M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530583	NM_001009944.3(PKD1):c.10821+4A>G	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2526488	NM_001009944.3(PKD1):c.10630G>A (p.Gly3544Ser)	PKD1, PKD1-AS1 (G3543S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523274	NM_001009944.3(PKD1):c.11404C>A (p.Leu3802Met)	PKD1, PKD1-AS1 (L3802M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507185	NM_001009944.3(PKD1):c.11270-10T>G	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2506776	NM_001009944.3(PKD1):c.10842C>G (p.Tyr3614Ter)	PKD1, PKD1-AS1 (Y3613* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2504561	NM_001009944.3(PKD1):c.10964del (p.Phe3655fs)	PKD1, PKD1-AS1 (F3654fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2500646	NM_001009944.3(PKD1):c.10764G>A (p.Trp3588Ter)	PKD1, PKD1-AS1 (W3587* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2499827	NM_001009944.3(PKD1):c.11600T>A (p.Val3867Asp)	PKD1, PKD1-AS1 (V3866D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2497955	NM_001009944.3(PKD1):c.11007C>T (p.Gly3669=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2445837	NM_001009944.3(PKD1):c.10601C>T (p.Ala3534Val)	PKD1, PKD1-AS1 (A3533V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442651	NM_001009944.3(PKD1):c.11246T>C (p.Leu3749Pro)	PKD1, PKD1-AS1 (L3748P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431737	NM_001009944.3(PKD1):c.11423G>A (p.Trp3808Ter)	PKD1, PKD1-AS1 (W3807* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 2428982	NM_001009944.3(PKD1):c.11501T>G (p.Leu3834Arg)	PKD1, PKD1-AS1 (L3833R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428759	NM_001009944.3(PKD1):c.11467_11480del (p.Leu3823fs)	PKD1, PKD1-AS1 (L3822fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2338553	NM_001009944.3(PKD1):c.11153C>T (p.Thr3718Met)	PKD1-AS1, PKD1 (T3718M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329561	NM_001009944.3(PKD1):c.11665G>T (p.Ala3889Ser)	PKD1-AS1, PKD1 (A3888S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320221	NM_001009944.3(PKD1):c.10924C>A (p.Arg3642Ser)	PKD1-AS1, PKD1 (R3641S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315175	NM_001009944.3(PKD1):c.11254G>A (p.Val3752Met)	PKD1-AS1, PKD1 (V3752M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305322	NM_001009944.3(PKD1):c.10604G>C (p.Arg3535Thr)	PKD1-AS1, PKD1 (R3535T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300636	NM_001009944.3(PKD1):c.10569C>A (p.Ser3523Arg)	PKD1, PKD1-AS1 (S3522R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288883	NM_001009944.3(PKD1):c.11449G>A (p.Gly3817Arg)	PKD1, PKD1-AS1 (G3816R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256514	NM_001009944.3(PKD1):c.11299_11342del (p.Val3767fs)	PKD1, PKD1-AS1 (V3766fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1807318	NM_001009944.3(PKD1):c.11496C>G (p.Asp3832Glu)	PKD1, PKD1-AS1 (D3831E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807305	NM_001009944.3(PKD1):c.11471del (p.Gly3824fs)	PKD1, PKD1-AS1 (G3823fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1807299	NM_001009944.3(PKD1):c.10960C>G (p.Leu3654Val)	PKD1, PKD1-AS1 (L3653V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806303	NM_001009944.3(PKD1):c.10822-3C>G	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1806154	NM_001009944.3(PKD1):c.11538-2A>C	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 1805485	NM_001009944.3(PKD1):c.10785C>A (p.Ser3595Arg)	PKD1, PKD1-AS1 (S3594R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1804968	NM_001009944.3(PKD1):c.10973A>G (p.Lys3658Arg)	PKD1, PKD1-AS1 (K3657R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1804909	NM_001009944.3(PKD1):c.11411+5G>A	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1804436	NM_001009944.3(PKD1):c.10796C>T (p.Ser3599Leu)	PKD1, PKD1-AS1 (S3598L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803270	NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly)	PKD1, PKD1-AS1 (R3752G +1 more)	Single nucleotide variant (missense variant)	PKD1-related condition +1 more	GLikely pathogenic
Select item 1800458	NM_001009944.3(PKD1):c.11017-25A>G	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +1 more	GLikely pathogenic
Select item 1723147	NM_001009944.3(PKD1):c.11657G>C (p.Arg3886Pro)	PKD1, PKD1-AS1 (R3885P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1722819	NM_001009944.3(PKD1):c.10663G>A (p.Ala3555Thr)	PKD1-AS1, PKD1 (A3554T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722793	NM_001009944.3(PKD1):c.11399C>T (p.Pro3800Leu)	PKD1, PKD1-AS1 (P3799L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712529	NM_001009944.3(PKD1):c.10652C>T (p.Pro3551Leu)	PKD1, PKD1-AS1 (P3550L +1 more)	Single nucleotide variant (missense variant)	PKD1-related condition +1 more	GUncertain significance

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