C3149841[trait identifier] AND "MVZ Medizinische Genetik Mainz"[submit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338377	NM_001009944.3(PKD1):c.12911A>G (p.Ter4304Trp)	PKD1	Single nucleotide variant (stop lost)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3236085	NM_001009944.3(PKD1):c.12615dup (p.Thr4206fs)	PKD1 (T4205fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2577450	NM_001009944.3(PKD1):c.12605del (p.Gly4202fs)	PKD1 (G4201fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066195	NM_001009944.3(PKD1):c.12570dup (p.Ser4191fs)	PKD1 (S4190fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3236023	NM_001009944.3(PKD1):c.12464T>C (p.Phe4155Ser)	PKD1 (F4154S +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066089	NM_001009944.3(PKD1):c.12464T>A (p.Phe4155Tyr)	PKD1 (F4154Y +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3234086	NM_001009944.3(PKD1):c.12407_12415dup (p.Arg4138_Leu4139insArgLeuArg)	PKD1	Duplication (inframe_insertion)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066346	NM_001009944.3(PKD1):c.12413G>A (p.Arg4138His)	PKD1 (R4137H +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2692309	NM_001009944.3(PKD1):c.12381C>A (p.Tyr4127Ter)	PKD1 (Y4126* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068377	NM_001009944.3(PKD1):c.12144_12145del (p.Ser4049fs)	PKD1 (S4048fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3235160	NM_001009944.3(PKD1):c.12119A>G (p.Tyr4040Cys)	PKD1 (Y4039C +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3236112	NM_001009944.3(PKD1):c.12004-1G>A	PKD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3236776	NM_001009944.3(PKD1):c.11995_11996dup (p.Leu3999fs)	PKD1 (L3998fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3236020	NM_001009944.3(PKD1):c.11989del (p.Leu3997fs)	PKD1 (L3996fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2577462	NM_001009944.3(PKD1):c.11881_11981del (p.Arg3961fs)	PKD1 (R3960fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3236084	NM_001009944.3(PKD1):c.11939T>G (p.Val3980Gly)	PKD1 (V3979G +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3236386	NM_001009944.3(PKD1):c.11843C>G (p.Thr3948Arg)	PKD1 (T3947R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2577447	NM_001009944.3(PKD1):c.11800_11801del (p.Gly3934fs)	PKD1 (G3933fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3234087	NM_001009944.3(PKD1):c.11693_11702del (p.Ser3898fs)	PKD1, PKD1-AS1 (S3897fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3236054	NM_001009944.3(PKD1):c.11674_11695del (p.Arg3892fs)	PKD1, PKD1-AS1 (R3891fs +1 more)	Deletion (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
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 2577461	NM_001009944.3(PKD1):c.11633_11646del (p.Arg3878fs)	PKD1, PKD1-AS1 (R3877fs +1 more)	Deletion (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
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 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)	not provided +1 more	GUncertain significance
Select item 3236350	NM_001009944.3(PKD1):c.11538-51_11554del	PKD1, PKD1-AS1	Deletion (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3256621	NM_001009944.3(PKD1):c.11532C>A (p.Asp3844Glu)	PKD1, PKD1-AS1 (D3843E +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
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 2692344	NM_001009944.3(PKD1):c.11412-7_11468del	PKD1, PKD1-AS1	Deletion (splice acceptor variant)	Polycystic kidney disease, adult type	GConflicting classifications of pathogenicity
Select item 3338380	NM_001009944.3(PKD1):c.11454C>T (p.Gly3818=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3236765	NM_001009944.3(PKD1):c.11412-1G>C	PKD1, PKD1-AS1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3256656	NM_001009944.3(PKD1):c.11389dup (p.Tyr3797fs)	PKD1, PKD1-AS1 (Y3796fs +1 more)	Duplication (frameshift variant)	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 3256886	NM_001009944.3(PKD1):c.11270-4del	PKD1, PKD1-AS1	Deletion (intron variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3235235	NM_001009944.3(PKD1):c.11253G>T (p.Gln3751His)	PKD1, PKD1-AS1 (Q3750H +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3236761	NM_001009944.3(PKD1):c.11192_11193delinsCT (p.Leu3731Pro)	PKD1, PKD1-AS1 (L3730P +1 more)	Indel (missense variant)	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 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 3256677	NM_001009944.3(PKD1):c.11057T>G (p.Leu3686Arg)	PKD1, PKD1-AS1 (L3685R +1 more)	Single nucleotide variant (missense variant)	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 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 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 3236017	NM_001009944.3(PKD1):c.10945C>T (p.Pro3649Ser)	PKD1, PKD1-AS1 (P3648S +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
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 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 3236063	NM_001009944.3(PKD1):c.10802T>G (p.Leu3601Arg)	PKD1, PKD1-AS1 (L3600R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3235958	NM_001009944.3(PKD1):c.10771T>C (p.Ser3591Pro)	PKD1, PKD1-AS1 (S3590P +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 3235151	NM_001009944.3(PKD1):c.10698GGCTGT[1] (p.3567AV[1])	PKD1, PKD1-AS1	Microsatellite (inframe_deletion)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3235964	NM_001009944.3(PKD1):c.10711dup (p.Ala3571fs)	PKD1, PKD1-AS1 (A3570fs +1 more)	Duplication (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 3066301	NM_001009944.3(PKD1):c.10615_10618+1del	PKD1, PKD1-AS1	Deletion (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3236371	NM_001009944.3(PKD1):c.10563_10567del (p.Ser3523fs)	PKD1, PKD1-AS1 (S3522fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3068418	NM_001009944.3(PKD1):c.10307_10329del (p.Gln3436fs)	PKD1 (Q3435fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2577440	NM_001009944.3(PKD1):c.10321_10325del (p.Gln3441fs)	PKD1 (Q3440fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066292	NM_001009944.3(PKD1):c.10289_10305dup (p.Gln3436fs)	PKD1 (Q3435fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3234074	NM_001009944.3(PKD1):c.10290G>A (p.Val3430=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066198	NM_001009944.3(PKD1):c.10261_10264del (p.Pro3421fs)	PKD1 (P3420fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3234071	NM_001009944.3(PKD1):c.9863del (p.Ile3288fs)	PKD1 (I3288fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066096	NM_001009944.3(PKD1):c.9851G>A (p.Cys3284Tyr)	PKD1 (C3284Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3068412	NM_001009944.3(PKD1):c.9841G>C (p.Ala3281Pro)	PKD1 (A3281P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066238	NM_001009944.3(PKD1):c.9805C>T (p.Arg3269Trp)	PKD1 (R3269W)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3338401	NM_001009944.3(PKD1):c.9756_9771dup (p.Phe3258fs)	PKD1 (F3258fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3061888	NM_001009944.3(PKD1):c.9754G>A (p.Glu3252Lys)	PKD1 (E3252K)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3236048	NM_001009944.3(PKD1):c.9697dup (p.Glu3233fs)	PKD1 (E3233fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3236384	NM_001009944.3(PKD1):c.9661del (p.Val3221fs)	PKD1 (V3221fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066163	NM_001009944.3(PKD1):c.9644T>A (p.Val3215Asp)	PKD1 (V3215D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3338374	NM_001009944.3(PKD1):c.9593A>C (p.Gln3198Pro)	PKD1 (Q3198P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2692345	NM_001009944.3(PKD1):c.9530G>A (p.Gly3177Asp)	PKD1 (G3177D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3338379	NM_001009944.3(PKD1):c.9496dup (p.Asp3166fs)	PKD1 (D3166fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3236778	NM_001009944.3(PKD1):c.9430G>C (p.Gly3144Arg)	PKD1 (G3144R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3066114	NM_001009944.3(PKD1):c.9417del (p.Ile3140fs)	PKD1 (I3140fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2577417	NM_001009944.3(PKD1):c.9386del (p.Gly3129fs)	PKD1 (G3129fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3236178	NM_001009944.3(PKD1):c.9373A>G (p.Lys3125Glu)	PKD1 (K3125E)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3068381	NM_001009944.3(PKD1):c.9185_9188dup (p.Phe3064fs)	PKD1 (F3064fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3066271	NM_001009944.3(PKD1):c.9049T>G (p.Tyr3017Asp)	PKD1 (Y3017D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3256708	NM_001009944.3(PKD1):c.9048del (p.Gln3016fs)	PKD1 (Q3016fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3234039	NM_001009944.3(PKD1):c.9045C>G (p.Cys3015Trp)	PKD1 (C3015W)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3235233	NM_001009944.3(PKD1):c.9038C>T (p.Ser3013Phe)	PKD1 (S3013F)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3066147	NM_001009944.3(PKD1):c.8993A>C (p.His2998Pro)	PKD1 (H2998P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3234025	NM_001009944.3(PKD1):c.8978T>G (p.Leu2993Arg)	PKD1 (L2993R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3256679	NM_001009944.3(PKD1):c.8840A>C (p.His2947Pro)	PKD1 (H2947P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3236132	NM_001009944.3(PKD1):c.8757del (p.Leu2920fs)	PKD1 (L2920fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3236109	NM_001009944.3(PKD1):c.8691del (p.Val2898fs)	PKD1 (V2898fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3256627	NM_001009944.3(PKD1):c.8574_8580del (p.Ala2859fs)	PKD1 (A2859fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3234108	NM_001009944.3(PKD1):c.8554del (p.Ala2852fs)	PKD1 (A2852fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3061875	NM_001009944.3(PKD1):c.8530_8538del (p.Val2844_Thr2846del)	PKD1	Deletion (inframe_deletion)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3061918	NM_001009944.3(PKD1):c.8493dup (p.Asn2832fs)	PKD1 (N2832fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2577418	NM_001009944.3(PKD1):c.8480_8481insCT (p.Leu2828fs)	PKD1 (L2828fs)	Insertion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3236799	NM_001009944.3(PKD1):c.8374del (p.Ser2792fs)	PKD1 (S2792fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3236237	NM_001009944.3(PKD1):c.8355C>T (p.Gly2785=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3236121	NM_001009944.3(PKD1):c.8332_8344dup (p.Val2782fs)	PKD1 (V2782fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3235188	NM_001009944.3(PKD1):c.8324_8325insA (p.Leu2776fs)	PKD1 (L2776fs)	Insertion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3234051	NM_001009944.3(PKD1):c.8272_8283del (p.Ala2758_Arg2761del)	PKD1	Deletion (inframe_deletion)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3068351	NM_001009944.3(PKD1):c.7884_7903dup (p.Glu2635fs)	PKD1 (E2635fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3235176	NM_001009944.3(PKD1):c.7887_7888insTGTGGCG (p.Ala2630fs)	PKD1 (A2630fs)	Insertion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3235158	NM_001009944.3(PKD1):c.7704-1G>C	PKD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3256709	NM_001009944.3(PKD1):c.7679_7690del (p.Gly2560_Val2563del)	PKD1	Deletion (inframe_deletion)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3236758	NM_001009944.3(PKD1):c.7664T>G (p.Val2555Gly)	PKD1 (V2555G)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3236138	NM_001009944.3(PKD1):c.7534del (p.Leu2512fs)	PKD1 (L2512fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic

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