"PreventionGenetics, part of Exact Sciences"[submitter] AND "PKD1L1-AS - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628881	NM_138295.5(PKD1L1):c.8342T>C (p.Met2781Thr)	PKD1L1, PKD1L1-AS1 (M2781T)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 3031020	NM_138295.5(PKD1L1):c.8194-3T>C	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	PKD1L1-related disorder	GLikely benign
Select item 3047406	NM_138295.5(PKD1L1):c.8133G>T (p.Arg2711=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3057623	NM_138295.5(PKD1L1):c.8132G>A (p.Arg2711Gln)	PKD1L1, PKD1L1-AS1 (R2711Q)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 2574525	NM_138295.5(PKD1L1):c.8131C>T (p.Arg2711Trp)	PKD1L1, PKD1L1-AS1 (R2711W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2027216	NM_138295.5(PKD1L1):c.8130G>C (p.Gln2710His)	PKD1L1, PKD1L1-AS1 (Q2710H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2182818	NM_138295.5(PKD1L1):c.8061C>T (p.Pro2687=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3054792	NM_138295.5(PKD1L1):c.8052C>T (p.Asp2684=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3054094	NM_138295.5(PKD1L1):c.8048C>G (p.Thr2683Arg)	PKD1L1, PKD1L1-AS1 (T2683R)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GLikely benign
Select item 3051206	NM_138295.5(PKD1L1):c.7935C>T (p.His2645=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 2629222	NM_138295.5(PKD1L1):c.7916G>C (p.Cys2639Ser)	PKD1L1, PKD1L1-AS1 (C2639S)	Single nucleotide variant (missense variant)	PKD1L1-related disorder +1 more	GUncertain significance
Select item 3057449	NM_138295.5(PKD1L1):c.7878C>T (p.Cys2626=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 2043891	NM_138295.5(PKD1L1):c.7876T>C (p.Cys2626Arg)	PKD1L1, PKD1L1-AS1 (C2626R)	Single nucleotide variant (missense variant)	PKD1L1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2629252	NM_138295.5(PKD1L1):c.7838G>A (p.Trp2613Ter)	PKD1L1, PKD1L1-AS1 (W2613*)	Single nucleotide variant (nonsense)	PKD1L1-related disorder	GLikely pathogenic
Select item 3036758	NM_138295.5(PKD1L1):c.7728C>A (p.Ser2576=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3040302	NM_138295.5(PKD1L1):c.7706G>C (p.Ser2569Thr)	PKD1L1, PKD1L1-AS1 (S2569T)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GLikely benign
Select item 2076322	NM_138295.5(PKD1L1):c.7693G>A (p.Val2565Met)	PKD1L1, PKD1L1-AS1 (V2565M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2636016	NM_138295.5(PKD1L1):c.7687-2A>G	PKD1L1, PKD1L1-AS1	Single nucleotide variant (splice acceptor variant)	PKD1L1-related disorder	GLikely pathogenic
Select item 3032950	NM_138295.5(PKD1L1):c.7687-10G>C	PKD1L1, PKD1L1-AS1	Single nucleotide variant (intron variant)	PKD1L1-related disorder	GLikely benign
Select item 1308445	NM_138295.5(PKD1L1):c.7663C>T (p.Arg2555Ter)	PKD1L1, PKD1L1-AS1 (R2555*)	Single nucleotide variant (nonsense)	PKD1L1-related disorder +1 more	GPathogenic
Select item 2401502	NM_138295.5(PKD1L1):c.7648G>A (p.Val2550Ile)	PKD1L1, PKD1L1-AS1 (V2550I)	Single nucleotide variant (missense variant)	PKD1L1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2899629	NM_138295.5(PKD1L1):c.7590C>T (p.Phe2530=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2634211	NM_138295.5(PKD1L1):c.7545C>A (p.Ser2515Arg)	PKD1L1, PKD1L1-AS1 (S2515R)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 3036039	NM_138295.5(PKD1L1):c.7519G>A (p.Val2507Met)	PKD1L1, PKD1L1-AS1 (V2507M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3032408	NM_138295.5(PKD1L1):c.7467G>T (p.Val2489=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 3032611	NM_138295.5(PKD1L1):c.7452A>G (p.Gln2484=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 1048779	NM_138295.5(PKD1L1):c.7418C>T (p.Ser2473Phe)	PKD1L1, PKD1L1-AS1 (S2473F)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal +2 more	GLikely benign
Select item 1286536	NM_138295.5(PKD1L1):c.7373G>A (p.Arg2458Gln)	PKD1L1, PKD1L1-AS1 (R2458Q)	Single nucleotide variant (missense variant)	PKD1L1-related disorder +1 more	GBenign
Select item 3051831	NM_138295.5(PKD1L1):c.7371C>T (p.Ser2457=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 2636895	NM_138295.5(PKD1L1):c.7342A>T (p.Thr2448Ser)	PKD1L1, PKD1L1-AS1 (T2448S)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GUncertain significance
Select item 3040269	NM_138295.5(PKD1L1):c.7305T>C (p.Cys2435=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 1708779	NM_138295.5(PKD1L1):c.7279G>A (p.Val2427Met)	PKD1L1, PKD1L1-AS1 (V2427M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1257395	NM_138295.5(PKD1L1):c.7228G>A (p.Glu2410Lys)	PKD1L1, PKD1L1-AS1 (E2410K)	Single nucleotide variant (missense variant)	PKD1L1-related disorder +1 more	GBenign
Select item 3058487	NM_138295.5(PKD1L1):c.7227C>T (p.Pro2409=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign
Select item 2908094	NM_138295.5(PKD1L1):c.7140G>T (p.Arg2380Ser)	PKD1L1, PKD1L1-AS1 (R2380S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1257813	NM_138295.5(PKD1L1):c.7065G>A (p.Pro2355=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3046108	NM_138295.5(PKD1L1):c.7060A>G (p.Thr2354Ala)	PKD1L1, PKD1L1-AS1 (T2354A)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GLikely benign
Select item 2636613	NM_138295.5(PKD1L1):c.7053G>A (p.Pro2351=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GUncertain significance
Select item 3049057	NM_138295.5(PKD1L1):c.7052C>T (p.Pro2351Leu)	PKD1L1, PKD1L1-AS1 (P2351L)	Single nucleotide variant (missense variant)	PKD1L1-related disorder	GLikely benign
Select item 3029463	NM_138295.5(PKD1L1):c.7047G>A (p.Leu2349=)	PKD1L1, PKD1L1-AS1	Single nucleotide variant (synonymous variant)	PKD1L1-related disorder	GLikely benign

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Items: 40