PXDNL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC130000227, LOC130000228 +541 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	LOC130000405, LOC130000406 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 58990	GRCh38/hg38 8q11.21-11.22(chr8:49455206-51671083)x1	LOC100507464, LOC124174250 +6 more	Copy number loss	See cases	GUncertain significance
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +173 more	Copy number loss	See cases	GPathogenic
Select item 57284	GRCh38/hg38 8q11.21-11.23(chr8:49796560-51802072)x1	LOC124174250, LOC124174251 +5 more	Copy number loss	See cases	GUncertain significance
Select item 58419	GRCh38/hg38 8q11.21-11.22(chr8:49970122-51353867)x3	LOC124174250, LOC124174251 +3 more	Copy number gain	See cases	GUncertain significance
Select item 144781	GRCh38/hg38 8q11.21-11.22(chr8:50220870-51694573)x3	LOC124174250, LOC124174251 +4 more	Copy number gain	See cases	GUncertain significance
Select item 58420	GRCh38/hg38 8q11.21-11.23(chr8:50236126-51705446)x3	LOC124174250, LOC124174251 +4 more	Copy number gain	See cases	GUncertain significance
Select item 155144	GRCh38/hg38 8q11.21-11.23(chr8:50946098-51846014)x3	LOC126860384, LOC126860385 +3 more	Copy number gain	See cases	GLikely benign
Select item 3060502	NM_144651.5(PXDNL):c.4356C>A (p.Asp1452Glu)	PXDNL (D1452E)	Single nucleotide variant (missense variant)	PXDNL-related condition	GBenign
Select item 2533263	NM_144651.5(PXDNL):c.4294C>T (p.Pro1432Ser)	PXDNL (P1432S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338760	NM_144651.5(PXDNL):c.4289T>G (p.Ile1430Ser)	PXDNL (I1430S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716090	NM_144651.5(PXDNL):c.4239C>T (p.Asp1413=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related condition +1 more	GBenign/Likely benign
Select item 2371211	NM_144651.5(PXDNL):c.4223G>A (p.Arg1408His)	PXDNL (R1408H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2383180	NM_144651.5(PXDNL):c.4216G>A (p.Glu1406Lys)	PXDNL (E1406K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060925	NM_144651.5(PXDNL):c.4196G>A (p.Arg1399Lys)	PXDNL (R1399K)	Single nucleotide variant (missense variant)	PXDNL-related condition	GBenign
Select item 2314013	NM_144651.5(PXDNL):c.4190A>G (p.Asp1397Gly)	PXDNL (D1397G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658595	NM_144651.5(PXDNL):c.4188A>G (p.Thr1396=)	PXDNL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619692	NM_144651.5(PXDNL):c.4149A>G (p.Ile1383Met)	PXDNL (I1383M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035044	NM_144651.5(PXDNL):c.4137C>A (p.Leu1379=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related condition	GBenign
Select item 792106	NM_144651.5(PXDNL):c.4025A>C (p.Asp1342Ala)	PXDNL (D1342A)	Single nucleotide variant (missense variant)	PXDNL-related condition +1 more	GBenign
Select item 2537759	NM_144651.5(PXDNL):c.4019A>T (p.Gln1340Leu)	PXDNL (Q1340L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059469	NM_144651.5(PXDNL):c.4017-7T>C	PXDNL	Single nucleotide variant (intron variant)	PXDNL-related condition	GBenign
Select item 3056506	NM_144651.5(PXDNL):c.3980T>A (p.Val1327Asp)	PXDNL (V1327D)	Single nucleotide variant (missense variant)	PXDNL-related condition	GBenign
Select item 3055001	NM_144651.5(PXDNL):c.3915A>T (p.Arg1305Ser)	PXDNL (R1305S)	Single nucleotide variant (missense variant)	PXDNL-related condition	GLikely benign
Select item 2553715	NM_144651.5(PXDNL):c.3859A>T (p.Ile1287Phe)	PXDNL (I1287F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039724	NM_144651.5(PXDNL):c.3774T>A (p.Cys1258Ter)	PXDNL (C1258*)	Single nucleotide variant (nonsense)	PXDNL-related condition	GBenign
Select item 2475641	NM_144651.5(PXDNL):c.3734T>G (p.Leu1245Arg)	PXDNL (L1245R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399909	NM_144651.5(PXDNL):c.3725C>T (p.Pro1242Leu)	PXDNL (P1242L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489395	NM_144651.5(PXDNL):c.3715G>C (p.Val1239Leu)	PXDNL (V1239L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403354	NM_144651.5(PXDNL):c.3693-23dup	PXDNL	Duplication (intron variant)	not specified	GBenign
Select item 792107	NM_144651.5(PXDNL):c.3619C>T (p.Pro1207Ser)	PXDNL (P1207S)	Single nucleotide variant (missense variant)	PXDNL-related condition +1 more	GBenign
Select item 2622886	NM_144651.5(PXDNL):c.3607G>A (p.Glu1203Lys)	PXDNL (E1203K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040619	NM_144651.5(PXDNL):c.3594C>T (p.Pro1198=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related condition	GLikely benign
Select item 2374389	NM_144651.5(PXDNL):c.3592C>A (p.Pro1198Thr)	PXDNL (P1198T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222934	NM_144651.5(PXDNL):c.3566G>A (p.Gly1189Asp)	PXDNL (G1189D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735891	NM_144651.5(PXDNL):c.3558-4C>T	PXDNL	Single nucleotide variant (intron variant)	PXDNL-related condition +1 more	GLikely benign
Select item 2544474	NM_144651.5(PXDNL):c.3533C>T (p.Ser1178Leu)	PXDNL (S1178L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035713	NM_144651.5(PXDNL):c.3474T>A (p.Val1158=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related condition	GLikely benign
Select item 2320496	NM_144651.5(PXDNL):c.3454C>T (p.Pro1152Ser)	PXDNL (P1152S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053055	NM_144651.5(PXDNL):c.3402C>G (p.Ala1134=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related condition	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 2347171	NM_144651.5(PXDNL):c.3392A>G (p.Tyr1131Cys)	PXDNL (Y1131C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353201	NM_144651.5(PXDNL):c.3385G>A (p.Ala1129Thr)	PXDNL (A1129T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2658596	NM_144651.5(PXDNL):c.3352C>G (p.Leu1118Val)	PXDNL (L1118V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2457657	NM_144651.5(PXDNL):c.3275T>A (p.Ile1092Asn)	PXDNL (I1092N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232918	NM_144651.5(PXDNL):c.3253C>T (p.Leu1085Phe)	PXDNL (L1085F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2289634	NM_144651.5(PXDNL):c.3221T>C (p.Ile1074Thr)	PXDNL (I1074T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 condition +1 more	GBenign
Select item 2622357	NM_144651.5(PXDNL):c.3107A>G (p.Tyr1036Cys)	PXDNL (Y1036C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291579	NM_144651.5(PXDNL):c.3073C>T (p.Pro1025Ser)	PXDNL (P1025S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403355	NM_144651.5(PXDNL):c.2946C>T (p.Ala982=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related condition +1 more	GBenign
Select item 769205	NM_144651.5(PXDNL):c.2941= (p.Met981=)	PXDNL	Variation (no sequence alteration)	not provided	GBenign
Select item 403356	NM_144651.5(PXDNL):c.2941A>G (p.Met981Val)	PXDNL (M981V)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2483177	NM_144651.5(PXDNL):c.2935A>C (p.Asn979His)	PXDNL (N979H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495473	NM_144651.5(PXDNL):c.2927G>A (p.Arg976Gln)	PXDNL (R976Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513713	NM_144651.5(PXDNL):c.2915C>T (p.Thr972Ile)	PXDNL (T972I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737107	NM_144651.5(PXDNL):c.2892T>C (p.His964=)	PXDNL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267532	NM_144651.5(PXDNL):c.2837G>A (p.Arg946Gln)	PXDNL (R946Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237584	NM_144651.5(PXDNL):c.2832C>G (p.Cys944Trp)	PXDNL (C944W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374279	NM_144651.5(PXDNL):c.2827G>A (p.Glu943Lys)	PXDNL (E943K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2459932	NM_144651.5(PXDNL):c.2542C>T (p.Arg848Trp)	PXDNL (R848W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058873	NM_144651.5(PXDNL):c.2498G>A (p.Ser833Asn)	PXDNL (S833N)	Single nucleotide variant (missense variant)	PXDNL-related condition	GBenign
Select item 2519634	NM_144651.5(PXDNL):c.2407C>G (p.Leu803Val)	PXDNL (L803V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466346	NM_144651.5(PXDNL):c.2396A>T (p.Tyr799Phe)	PXDNL (Y799F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033580	NM_144651.5(PXDNL):c.2382C>T (p.Thr794=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related condition	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 3060242	NM_144651.5(PXDNL):c.2341C>G (p.Arg781Gly)	PXDNL (R781G)	Single nucleotide variant (missense variant)	PXDNL-related condition	GBenign
Select item 2399994	NM_144651.5(PXDNL):c.2317T>C (p.Ser773Pro)	PXDNL (S773P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2525471	NM_144651.5(PXDNL):c.2273G>C (p.Arg758Pro)	PXDNL (R758P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337706	NM_144651.5(PXDNL):c.2267C>G (p.Ala756Gly)	PXDNL (A756G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367825	NM_144651.5(PXDNL):c.2251C>T (p.Arg751Cys)	PXDNL (R751C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261469	NM_144651.5(PXDNL):c.2227G>A (p.Gly743Ser)	PXDNL (G743S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038456	NM_144651.5(PXDNL):c.2218C>T (p.Pro740Ser)	PXDNL (P740S)	Single nucleotide variant (missense variant)	PXDNL-related condition	GBenign
Select item 2389448	NM_144651.5(PXDNL):c.2173G>A (p.Ala725Thr)	PXDNL (A725T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256666	NM_144651.5(PXDNL):c.2134C>G (p.Arg712Gly)	PXDNL (R712G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729942	NM_144651.5(PXDNL):c.2004G>A (p.Thr668=)	PXDNL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2397896	NM_144651.5(PXDNL):c.1951C>T (p.Arg651Cys)	PXDNL (R651C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222933	NM_144651.5(PXDNL):c.1883C>T (p.Thr628Ile)	PXDNL (T628I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052474	NM_144651.5(PXDNL):c.1848T>C (p.Asp616=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related condition	GLikely benign
Select item 3059646	NM_144651.5(PXDNL):c.1847A>C (p.Asp616Ala)	PXDNL (D616A)	Single nucleotide variant (missense variant)	PXDNL-related condition	GBenign
Select item 3060006	NM_144651.5(PXDNL):c.1818C>T (p.Gly606=)	PXDNL	Single nucleotide variant (synonymous variant)	PXDNL-related condition	GBenign
Select item 2323503	NM_144651.5(PXDNL):c.1776C>A (p.Asn592Lys)	PXDNL (N592K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484847	NM_144651.5(PXDNL):c.1772C>T (p.Thr591Ile)	PXDNL (T591I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056403	NM_144651.5(PXDNL):c.1748G>A (p.Arg583Gln)	PXDNL (R583Q)	Single nucleotide variant (missense variant)	PXDNL-related condition	GBenign
Select item 2347262	NM_144651.5(PXDNL):c.1705G>A (p.Asp569Asn)	PXDNL (D569N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2376583	NM_144651.5(PXDNL):c.1699A>G (p.Ile567Val)	PXDNL (I567V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254788	NM_144651.5(PXDNL):c.1691C>T (p.Thr564Met)	PXDNL (T564M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 715616	NM_144651.5(PXDNL):c.1612C>G (p.Pro538Ala)	PXDNL (P538A)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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