"GeneDx"[submitter] AND "PKD1-AS1"[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 151642	GRCh38/hg38 16p13.3(chr16:2084201-2092088)x3	MIR1225, PKD1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 256908	NM_001009944.3(PKD1):c.11682C>T (p.Ser3894=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 387523	NM_001009944.3(PKD1):c.11656C>A (p.Arg3886Ser)	PKD1, PKD1-AS1 (R3886S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1691177	NM_001009944.3(PKD1):c.11621del (p.Pro3874fs)	PKD1, PKD1-AS1 (P3873fs +1 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 3338780	NM_001009944.3(PKD1):c.11614G>T (p.Glu3872Ter)	PKD1, PKD1-AS1 (E3871* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1302508	NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg)	PKD1, PKD1-AS1 (L3868R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 1254751	NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro)	PKD1, PKD1-AS1 (L3851P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 3340840	NM_001009944.3(PKD1):c.11548G>T (p.Val3850Leu)	PKD1, PKD1-AS1 (V3849L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 256905	NM_001009944.3(PKD1):c.11538-11C>T	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 256903	NM_001009944.3(PKD1):c.11537+3_11537+5dup	PKD1-AS1, PKD1	Duplication	not specified +2 more	GBenign/Likely benign
Select item 3252556	NM_001009944.3(PKD1):c.11537+1G>A	PKD1, PKD1-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 805142	NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter)	PKD1, PKD1-AS1 (W3842* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic/Likely pathogenic
Select item 256902	NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 8199	NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)	PKD1, PKD1-AS1 (Q3837* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	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 447952	NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)	PKD1, PKD1-AS1 (G3817D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 994703	NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
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 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 1683829	NM_001009944.3(PKD1):c.11384G>A (p.Trp3795Ter)	PKD1, PKD1-AS1 (W3794* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 562287	NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)	PKD1, PKD1-AS1 (T3793fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type +2 more	GPathogenic
Select item 976834	NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1693375	NM_001009944.3(PKD1):c.11341_11346dup (p.Asp3782_Val3783insTyrAsp)	PKD1, PKD1-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1207467	NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup)	PKD1, PKD1-AS1	Duplication (inframe_insertion)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 256901	NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 994668	NM_001009944.3(PKD1):c.11344del (p.Asp3782fs)	PKD1, PKD1-AS1 (D3781fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3371716	NM_001009944.3(PKD1):c.11327T>G (p.Phe3776Cys)	PKD1, PKD1-AS1 (F3775C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207184	NM_001009944.3(PKD1):c.11293C>T (p.Pro3765Ser)	PKD1, PKD1-AS1 (P3764S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342339	NM_001009944.3(PKD1):c.11290G>A (p.Gly3764Ser)	PKD1, PKD1-AS1 (G3763S +1 more)	Single nucleotide variant (missense variant)	not provided	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 372964	NM_001009944.3(PKD1):c.11251_11265dup (p.Gln3751_Gln3755dup)	PKD1, PKD1-AS1	Duplication (inframe_insertion)	not provided	GLikely pathogenic
Select item 440120	NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)	PKD1, PKD1-AS1 (R3752Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 636966	NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)	MIR1225, PKD1 +2 more (R3750Q +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
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 1312446	NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro)	PKD1, PKD1-AS1 (R3747P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3340605	NM_001009944.3(PKD1):c.11240del (p.Pro3747fs)	PKD1, PKD1-AS1 (P3746fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1314099	NM_001009944.3(PKD1):c.11214C>G (p.Asn3738Lys)	PKD1, PKD1-AS1 (N3737K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314567	NM_001009944.3(PKD1):c.11207A>G (p.His3736Arg)	PKD1, PKD1-AS1 (H3735R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341617	NM_001009944.3(PKD1):c.11178G>C (p.Trp3726Cys)	PKD1, PKD1-AS1 (W3725C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447949	NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)	PKD1, PKD1-AS1 (W3725R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1310653	NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala)	PKD1, PKD1-AS1 (S3719A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 440073	NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln)	PKD1, PKD1-AS1 (R3718Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 1700760	NM_001009944.3(PKD1):c.11135G>A (p.Arg3712Gln)	PKD1, PKD1-AS1 (R3711Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1313557	NM_001009944.3(PKD1):c.11110G>C (p.Ala3704Pro)	PKD1, PKD1-AS1 (A3703P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3338781	NM_001009944.3(PKD1):c.11104C>T (p.Gln3702Ter)	PKD1, PKD1-AS1 (Q3701* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1313275	NM_001009944.3(PKD1):c.11087G>A (p.Gly3696Glu)	PKD1, PKD1-AS1 (G3695E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326459	NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys)	PKD1, PKD1-AS1 (Y3676C +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GUncertain significance
Select item 440126	NM_001009944.3(PKD1):c.11017-3C>T	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 1187532	NM_001009944.3(PKD1):c.11017-16dup	PKD1, PKD1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 805137	NM_001009944.3(PKD1):c.11017-10C>A	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
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 1310908	NM_001009944.3(PKD1):c.10978G>A (p.Glu3660Lys)	PKD1, PKD1-AS1 (E3659K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 546136	NM_001009944.3(PKD1):c.10961T>A (p.Leu3654His)	PKD1, PKD1-AS1 (L3654H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916424	NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val)	PKD1-AS1, PKD1 (A3653V +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
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 873398	NM_001009944.3(PKD1):c.10942C>A (p.Pro3648Thr)	PKD1, PKD1-AS1 (P3647T +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GConflicting classifications of pathogenicity
Select item 586244	NM_001009944.3(PKD1):c.10939C>T (p.Arg3647Trp)	PKD1, PKD1-AS1 (R3646W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994666	NM_001009944.3(PKD1):c.10933C>T (p.Arg3645Cys)	PKD1, PKD1-AS1 (R3644C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3252664	NM_001009944.3(PKD1):c.10920C>T (p.Ser3640=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3338782	NM_001009944.3(PKD1):c.10895_10898del (p.Glu3632fs)	PKD1, PKD1-AS1 (E3631fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3369588	NM_001009944.3(PKD1):c.10861C>T (p.Arg3621Trp)	PKD1-AS1, PKD1 (R3620W +1 more)	Single nucleotide variant (missense 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 2530583	NM_001009944.3(PKD1):c.10821+4A>G	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1312694	NM_001009944.3(PKD1):c.10819A>G (p.Lys3607Glu)	PKD1, PKD1-AS1 (K3606E +1 more)	Single nucleotide variant (missense variant)	not provided	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 3371405	NM_001009944.3(PKD1):c.10792G>C (p.Ala3598Pro)	PKD1, PKD1-AS1 (A3597P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330250	NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe)	PKD1, PKD1-AS1 (S3590F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256894	NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
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 521541	NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)	PKD1, PKD1-AS1 (V3583fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type +2 more	GPathogenic
Select item 997310	NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter)	PKD1, PKD1-AS1 (W3574* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 434001	NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2])	PKD1-AS1, PKD1	Microsatellite (inframe_deletion)	not provided +1 more	GLikely pathogenic
Select item 618304	NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg)	PKD1, PKD1-AS1 (G3559R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GBenign/Likely benign
Select item 3371615	NM_001009944.3(PKD1):c.10669del (p.Leu3557fs)	PKD1, PKD1-AS1 (L3556fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1722819	NM_001009944.3(PKD1):c.10663G>A (p.Ala3555Thr)	PKD1, PKD1-AS1 (A3554T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1699513	NM_001009944.3(PKD1):c.10658G>A (p.Trp3553Ter)	PKD1, PKD1-AS1 (W3552* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1049593	NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)	PKD1, PKD1-AS1 (A3551S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 disorder +1 more	GUncertain significance
Select item 3368367	NM_001009944.3(PKD1):c.10636C>T (p.Arg3546Trp)	PKD1, PKD1-AS1 (R3545W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816946	NM_001009944.3(PKD1):c.10588C>T (p.Gln3530Ter)	PKD1, PKD1-AS1 (Q3530* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 256893	NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val)	PKD1, PKD1-AS1 (A3512V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 256892	NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val)	PKD1, PKD1-AS1 (L3511V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 256891	NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met)	PKD1, PKD1-AS1 (T3510M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1077162	NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs)	PKD1, PKD1-AS1 (E3508fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 1683895	NM_001009944.3(PKD1):c.10524dup (p.Glu3509fs)	PKD1, PKD1-AS1 (E3508fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic

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Items: 93