"MVZ Medizinische Genetik Mainz"[submitter] AND "PKD1-AS1"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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Items: 35