"PreventionGenetics, part of Exact Sciences"[submitter] AND "PXDNL"[ge - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060502	NM_144651.5(PXDNL):c.4356C>A (p.Asp1452Glu)	PXDNL (D1452E)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 716090	NM_144651.5(PXDNL):c.4239C>T (p.Asp1413=)	PXDNL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3060925	NM_144651.5(PXDNL):c.4196G>A (p.Arg1399Lys)	PXDNL (R1399K)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 3035044	NM_144651.5(PXDNL):c.4137C>A (p.Leu1379=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GBenign
Select item 792106	NM_144651.5(PXDNL):c.4025A>C (p.Asp1342Ala)	PXDNL (D1342A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3059469	NM_144651.5(PXDNL):c.4017-7T>C	PXDNL	Single nucleotide variant (intron variant)	PXDNL-related disorder	GBenign
Select item 3056506	NM_144651.5(PXDNL):c.3980T>A (p.Val1327Asp)	PXDNL (V1327D)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 3055001	NM_144651.5(PXDNL):c.3915A>T (p.Arg1305Ser)	PXDNL (R1305S)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GLikely benign
Select item 3039724	NM_144651.5(PXDNL):c.3774T>A (p.Cys1258Ter)	PXDNL (C1258*)	Single nucleotide variant (nonsense)	PXDNL-related disorder	GBenign
Select item 792107	NM_144651.5(PXDNL):c.3619C>T (p.Pro1207Ser)	PXDNL (P1207S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3040619	NM_144651.5(PXDNL):c.3594C>T (p.Pro1198=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GLikely benign
Select item 735891	NM_144651.5(PXDNL):c.3558-4C>T	PXDNL	Single nucleotide variant (intron variant)	PXDNL-related disorder +1 more	GLikely benign
Select item 3035713	NM_144651.5(PXDNL):c.3474T>A (p.Val1158=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GLikely benign
Select item 3053055	NM_144651.5(PXDNL):c.3402C>G (p.Ala1134=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GLikely benign
Select item 778396	NM_144651.5(PXDNL):c.3398C>T (p.Ala1133Val)	PXDNL (A1133V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2658596	NM_144651.5(PXDNL):c.3352C>G (p.Leu1118Val)	PXDNL (L1118V)	Single nucleotide variant (missense variant)	PXDNL-related disorder +1 more	GBenign/Likely benign
Select item 776325	NM_144651.5(PXDNL):c.3150T>C (p.Thr1050=)	PXDNL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 791166	NM_144651.5(PXDNL):c.3116A>G (p.Asn1039Ser)	PXDNL (N1039S)	Single nucleotide variant (missense variant)	PXDNL-related disorder +1 more	GBenign
Select item 403355	NM_144651.5(PXDNL):c.2946C>T (p.Ala982=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder +1 more	GBenign
Select item 2374279	NM_144651.5(PXDNL):c.2827G>A (p.Glu943Lys)	PXDNL (E943K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3058873	NM_144651.5(PXDNL):c.2498G>A (p.Ser833Asn)	PXDNL (S833N)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 3033580	NM_144651.5(PXDNL):c.2382C>T (p.Thr794=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GLikely benign
Select item 3060242	NM_144651.5(PXDNL):c.2341C>G (p.Arg781Gly)	PXDNL (R781G)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 3038456	NM_144651.5(PXDNL):c.2218C>T (p.Pro740Ser)	PXDNL (P740S)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 729942	NM_144651.5(PXDNL):c.2004G>A (p.Thr668=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder +1 more	GBenign
Select item 3052474	NM_144651.5(PXDNL):c.1848T>C (p.Asp616=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GLikely benign
Select item 3059646	NM_144651.5(PXDNL):c.1847A>C (p.Asp616Ala)	PXDNL (D616A)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 3060006	NM_144651.5(PXDNL):c.1818C>T (p.Gly606=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GBenign
Select item 3056403	NM_144651.5(PXDNL):c.1748G>A (p.Arg583Gln)	PXDNL (R583Q)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 2347262	NM_144651.5(PXDNL):c.1705G>A (p.Asp569Asn)	PXDNL (D569N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 780751	NM_144651.5(PXDNL):c.1675G>T (p.Val559Leu)	PXDNL (V559L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3038791	NM_144651.5(PXDNL):c.1533A>G (p.Ala511=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GBenign
Select item 776326	NM_144651.5(PXDNL):c.1433C>T (p.Ala478Val)	PXDNL (A478V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3039598	NM_144651.5(PXDNL):c.1330G>A (p.Gly444Ser)	PXDNL (G444S)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 776327	NM_144651.5(PXDNL):c.1302T>C (p.His434=)	PXDNL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3038099	NM_144651.5(PXDNL):c.1172G>A (p.Arg391Gln)	PXDNL (R391Q)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 722020	NM_144651.5(PXDNL):c.1171C>T (p.Arg391Trp)	PXDNL (R391W)	Single nucleotide variant (missense variant)	PXDNL-related disorder +1 more	GLikely benign
Select item 403357	NM_144651.5(PXDNL):c.1128C>T (p.His376=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder +1 more	GBenign
Select item 3060853	NM_144651.5(PXDNL):c.1111C>T (p.Leu371=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GBenign
Select item 3059483	NM_144651.5(PXDNL):c.1028T>C (p.Ile343Thr)	PXDNL (I343T)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 788552	NM_144651.5(PXDNL):c.913del (p.Cys305fs)	PXDNL (C305fs)	Deletion (frameshift variant)	not provided +1 more	GBenign
Select item 3047293	NM_144651.5(PXDNL):c.750C>T (p.Thr250=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GLikely benign
Select item 3047972	NM_144651.5(PXDNL):c.720G>A (p.Pro240=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GLikely benign
Select item 776328	NM_144651.5(PXDNL):c.694C>G (p.Gln232Glu)	PXDNL (Q232E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403358	NM_144651.5(PXDNL):c.486A>G (p.Pro162=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder +1 more	GBenign
Select item 3040655	NM_144651.5(PXDNL):c.281T>C (p.Phe94Ser)	PXDNL (F94S)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GLikely benign
Select item 3056730	NM_144651.5(PXDNL):c.203G>T (p.Ser68Ile)	PXDNL (S68I)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 790056	NM_144651.5(PXDNL):c.194T>A (p.Ile65Asn)	PXDNL (I65N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 768240	NM_144651.5(PXDNL):c.165-10A>G	PXDNL	Single nucleotide variant (intron variant)	PXDNL-related disorder +1 more	GBenign

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Items: 49