ClinVar for Gene (Select 137902) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311831	NM_144651.5(PXDNL):c.2576G>C (p.Cys859Ser)	PXDNL (C859S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311830	NM_144651.5(PXDNL):c.3446G>T (p.Gly1149Val)	PXDNL (G1149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311829	NM_144651.5(PXDNL):c.724G>T (p.Asp242Tyr)	PXDNL (D242Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311828	NM_144651.5(PXDNL):c.3305G>A (p.Arg1102Gln)	PXDNL (R1102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311827	NM_144651.5(PXDNL):c.2278G>C (p.Gly760Arg)	PXDNL (G760R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311826	NM_144651.5(PXDNL):c.3971G>T (p.Ser1324Ile)	PXDNL (S1324I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311825	NM_144651.5(PXDNL):c.300G>T (p.Leu100Phe)	PXDNL (L100F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311823	NM_144651.5(PXDNL):c.3976C>T (p.Pro1326Ser)	PXDNL (P1326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311822	NM_144651.5(PXDNL):c.3897T>G (p.Cys1299Trp)	PXDNL (C1299W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311821	NM_144651.5(PXDNL):c.1478C>T (p.Ser493Leu)	PXDNL (S493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311820	NM_144651.5(PXDNL):c.574G>C (p.Gly192Arg)	PXDNL (G192R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311819	NM_144651.5(PXDNL):c.1505A>C (p.Gln502Pro)	PXDNL (Q502P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311818	NM_144651.5(PXDNL):c.1099A>G (p.Asn367Asp)	PXDNL (N367D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311817	NM_144651.5(PXDNL):c.4388G>A (p.Arg1463His)	PXDNL (R1463H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235847	NM_144651.5(PXDNL):c.2998G>A (p.Glu1000Lys)	PXDNL (E1000K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3150108	NM_144651.5(PXDNL):c.795T>G (p.Ile265Met)	PXDNL (I265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150106	NM_144651.5(PXDNL):c.76A>T (p.Ser26Cys)	PXDNL (S26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150105	NM_144651.5(PXDNL):c.769G>A (p.Ala257Thr)	PXDNL (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150104	NM_144651.5(PXDNL):c.767G>A (p.Arg256Gln)	PXDNL (R256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150103	NM_144651.5(PXDNL):c.766C>T (p.Arg256Trp)	PXDNL (R256W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150102	NM_144651.5(PXDNL):c.506T>A (p.Leu169Gln)	PXDNL (L169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150101	NM_144651.5(PXDNL):c.4364T>G (p.Met1455Arg)	PXDNL (M1455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150100	NM_144651.5(PXDNL):c.4331G>A (p.Gly1444Glu)	PXDNL (G1444E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150099	NM_144651.5(PXDNL):c.4301C>T (p.Ala1434Val)	PXDNL (A1434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150098	NM_144651.5(PXDNL):c.425T>C (p.Phe142Ser)	PXDNL (F142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150097	NM_144651.5(PXDNL):c.4197A>C (p.Arg1399Ser)	PXDNL (R1399S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150096	NM_144651.5(PXDNL):c.3955C>T (p.Arg1319Cys)	PXDNL (R1319C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150095	NM_144651.5(PXDNL):c.3849C>G (p.Asn1283Lys)	PXDNL (N1283K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150094	NM_144651.5(PXDNL):c.3810T>G (p.Asp1270Glu)	PXDNL (D1270E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150093	NM_144651.5(PXDNL):c.3781G>T (p.Gly1261Cys)	PXDNL (G1261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150091	NM_144651.5(PXDNL):c.3623G>A (p.Gly1208Asp)	PXDNL (G1208D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150090	NM_144651.5(PXDNL):c.3565G>A (p.Gly1189Ser)	PXDNL (G1189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150089	NM_144651.5(PXDNL):c.3334C>T (p.Arg1112Trp)	PXDNL (R1112W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150088	NM_144651.5(PXDNL):c.2948C>G (p.Thr983Arg)	PXDNL (T983R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150087	NM_144651.5(PXDNL):c.2611A>T (p.Ser871Cys)	PXDNL (S871C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150086	NM_144651.5(PXDNL):c.2599C>T (p.Pro867Ser)	PXDNL (P867S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150085	NM_144651.5(PXDNL):c.2580G>A (p.Met860Ile)	PXDNL (M860I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150083	NM_144651.5(PXDNL):c.2386G>T (p.Asp796Tyr)	PXDNL (D796Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150082	NM_144651.5(PXDNL):c.2293C>T (p.Arg765Cys)	PXDNL (R765C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150081	NM_144651.5(PXDNL):c.2186C>T (p.Ala729Val)	PXDNL (A729V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150079	NM_144651.5(PXDNL):c.2074A>G (p.Asn692Asp)	PXDNL (N692D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150078	NM_144651.5(PXDNL):c.1985G>A (p.Gly662Glu)	PXDNL (G662E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150077	NM_144651.5(PXDNL):c.1777A>C (p.Met593Leu)	PXDNL (M593L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150076	NM_144651.5(PXDNL):c.1671C>A (p.Phe557Leu)	PXDNL (F557L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150075	NM_144651.5(PXDNL):c.1463G>A (p.Cys488Tyr)	PXDNL (C488Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150074	NM_144651.5(PXDNL):c.1346T>C (p.Val449Ala)	PXDNL (V449A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
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 3060853	NM_144651.5(PXDNL):c.1111C>T (p.Leu371=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GBenign
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 3060242	NM_144651.5(PXDNL):c.2341C>G (p.Arg781Gly)	PXDNL (R781G)	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 3059646	NM_144651.5(PXDNL):c.1847A>C (p.Asp616Ala)	PXDNL (D616A)	Single nucleotide variant (missense 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 3059469	NM_144651.5(PXDNL):c.4017-7T>C	PXDNL	Single nucleotide variant (intron variant)	PXDNL-related disorder	GBenign
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 3056730	NM_144651.5(PXDNL):c.203G>T (p.Ser68Ile)	PXDNL (S68I)	Single nucleotide variant (missense 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 3056403	NM_144651.5(PXDNL):c.1748G>A (p.Arg583Gln)	PXDNL (R583Q)	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 3053055	NM_144651.5(PXDNL):c.3402C>G (p.Ala1134=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GLikely benign
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 3047972	NM_144651.5(PXDNL):c.720G>A (p.Pro240=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related disorder	GLikely benign
Select item 3047293	NM_144651.5(PXDNL):c.750C>T (p.Thr250=)	PXDNL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3040619	NM_144651.5(PXDNL):c.3594C>T (p.Pro1198=)	PXDNL	Single nucleotide variant (synonymous 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 3039598	NM_144651.5(PXDNL):c.1330G>A (p.Gly444Ser)	PXDNL (G444S)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
Select item 3038791	NM_144651.5(PXDNL):c.1533A>G (p.Ala511=)	PXDNL	Single nucleotide variant (synonymous 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 3038099	NM_144651.5(PXDNL):c.1172G>A (p.Arg391Gln)	PXDNL (R391Q)	Single nucleotide variant (missense variant)	PXDNL-related disorder	GBenign
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 3035044	NM_144651.5(PXDNL):c.4137C>A (p.Leu1379=)	PXDNL	Single nucleotide variant (synonymous 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 2684541	GRCh37/hg19 8q11.21-11.23(chr8:51117736-52624904)x3	PXDNL, SNTG1	Copy number gain	not provided	GUncertain significance
Select item 2658598	NM_144651.5(PXDNL):c.2307T>C (p.Leu769=)	PXDNL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658597	NM_144651.5(PXDNL):c.2349C>A (p.Val783=)	PXDNL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658596	NM_144651.5(PXDNL):c.3352C>G (p.Leu1118Val)	PXDNL (L1118V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658595	NM_144651.5(PXDNL):c.4188A>G (p.Thr1396=)	PXDNL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622886	NM_144651.5(PXDNL):c.3607G>A (p.Glu1203Lys)	PXDNL (E1203K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622357	NM_144651.5(PXDNL):c.3107A>G (p.Tyr1036Cys)	PXDNL (Y1036C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619692	NM_144651.5(PXDNL):c.4149A>G (p.Ile1383Met)	PXDNL (I1383M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614036	NM_144651.5(PXDNL):c.1007C>T (p.Pro336Leu)	PXDNL (P336L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598523	NM_144651.5(PXDNL):c.112A>G (p.Met38Val)	PXDNL (M38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594644	NM_144651.5(PXDNL):c.1483G>C (p.Gly495Arg)	PXDNL (G495R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569473	NM_144651.5(PXDNL):c.354T>G (p.Phe118Leu)	PXDNL (F118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569463	NM_144651.5(PXDNL):c.352T>A (p.Phe118Ile)	PXDNL (F118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553715	NM_144651.5(PXDNL):c.3859A>T (p.Ile1287Phe)	PXDNL (I1287F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544885	NM_144651.5(PXDNL):c.671T>C (p.Val224Ala)	PXDNL (V224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544474	NM_144651.5(PXDNL):c.3533C>T (p.Ser1178Leu)	PXDNL (S1178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537759	NM_144651.5(PXDNL):c.4019A>T (p.Gln1340Leu)	PXDNL (Q1340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533263	NM_144651.5(PXDNL):c.4294C>T (p.Pro1432Ser)	PXDNL (P1432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529781	NM_144651.5(PXDNL):c.1073A>T (p.His358Leu)	PXDNL (H358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525471	NM_144651.5(PXDNL):c.2273G>C (p.Arg758Pro)	PXDNL (R758P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519634	NM_144651.5(PXDNL):c.2407C>G (p.Leu803Val)	PXDNL (L803V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517200	NM_144651.5(PXDNL):c.1391A>C (p.Gln464Pro)	PXDNL (Q464P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513713	NM_144651.5(PXDNL):c.2915C>T (p.Thr972Ile)	PXDNL (T972I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509809	NM_144651.5(PXDNL):c.1187T>A (p.Phe396Tyr)	PXDNL (F396Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495473	NM_144651.5(PXDNL):c.2927G>A (p.Arg976Gln)	PXDNL (R976Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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