"Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthc - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522491	NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val)	PKD1, PKD1-AS1 (A3895V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 522397	NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)	PKD1, PKD1-AS1 (T3854fs +1 more)	Deletion (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 992451	NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter)	PKD1, PKD1-AS1 (S3791* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 992386	NM_001009944.3(PKD1):c.11367_11368del (p.His3789fs)	PKD1, PKD1-AS1 (H3788fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 448977	NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs)	PKD1, PKD1-AS1 (D3782fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 438715	NM_001009944.3(PKD1):c.11305_11306del (p.Thr3769fs)	PKD1, PKD1-AS1 (T3769fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 397604	NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter)	PKD1, PKD1-AS1 (Y3759* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 599152	NM_001009944.3(PKD1):c.11270-10T>A	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 635438	NM_001009944.3(PKD1):c.11156+1G>C	PKD1-AS1, PKD1	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 522518	NM_001009944.3(PKD1):c.11137dup (p.Ala3713fs)	PKD1-AS1, PKD1 (A3713fs +1 more)	Duplication (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 438684	NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter)	PKD1, PKD1-AS1 (S3693* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 829965	NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs)	PKD1, PKD1-AS1 (T3684fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 522396	NM_001009944.3(PKD1):c.11033del (p.Met3678fs)	PKD1, PKD1-AS1 (M3677fs +1 more)	Deletion (frameshift variant)	PKD1-related disorder	GPathogenic
Select item 992431	NM_001009944.3(PKD1):c.11017-47_11022del	PKD1, PKD1-AS1	Deletion (splice acceptor variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 992450	NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser)	PKD1, PKD1-AS1 (G3650S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438687	NM_001009944.3(PKD1):c.10820A>T (p.Lys3607Met)	PKD1, PKD1-AS1 (K3607M +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 369959	NM_001009944.3(PKD1):c.10817T>G (p.Leu3606Arg)	PKD1-AS1, PKD1 (L3606R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 438650	NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4])	PKD1, PKD1-AS1	Microsatellite (inframe_insertion)	Polycystic kidney disease, adult type	GUncertain significance
Select item 522418	NM_001009944.3(PKD1):c.10659del (p.Trp3553fs)	PKD1-AS1, PKD1 (W3552fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 438665	NM_001009944.3(PKD1):c.10560dup (p.Pro3521fs)	PKD1, PKD1-AS1 (P3520fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic

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Items: 20