Related gene-specific medical variations for Gene (Select 2074) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053719	NM_001277058.2(ERCC6):c.2106T>C (p.Asn702=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	ERCC6-related condition	GLikely benign
Select item 3053001	NM_001277058.2(ERCC6):c.1590G>A (p.Ala530=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	PGBD3-related condition	GLikely benign
Select item 3049394	NM_001277058.2(ERCC6):c.2247G>T (p.Gly749=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	ERCC6-related condition	GLikely benign
Select item 3047644	NM_000124.4(ERCC6):c.1284A>G (p.Pro428=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	ERCC6-related condition	GLikely benign
Select item 3044195	NM_001277058.2(ERCC6):c.1790C>T (p.Thr597Ile)	ERCC6, PGBD3 (T129I +1 more)	Single nucleotide variant (missense variant +1 more)	ERCC6-related condition	GLikely benign
Select item 3038141	NM_001277058.2(ERCC6):c.1860C>T (p.Asp620=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	PGBD3-related condition	GLikely benign
Select item 3038133	NM_001277058.2(ERCC6):c.3003T>C (p.Pro1001=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	PGBD3-related condition	GLikely benign
Select item 3035824	NM_000124.4(ERCC6):c.2832C>T (p.Ala944=)	ERCC6, LOC126860933	Single nucleotide variant (synonymous variant)	ERCC6-related condition	GLikely benign
Select item 3021641	NM_000124.4(ERCC6):c.1397+20A>G	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015575	NM_000124.4(ERCC6):c.1397+18A>G	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992265	NM_000124.4(ERCC6):c.2830-17C>G	ERCC6, LOC126860933	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990296	NM_000124.4(ERCC6):c.2880C>T (p.Tyr960=)	ERCC6, LOC126860933	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977141	NM_000124.4(ERCC6):c.2813del (p.Pro938fs)	ERCC6, LOC126860933 (P938fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2961170	NM_000124.4(ERCC6):c.2924+19C>T	ERCC6, LOC126860933	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859673	NM_000124.4(ERCC6):c.1182C>T (p.Asp394=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2856650	NM_000124.4(ERCC6):c.1389G>A (p.Gln463=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2849416	NM_000124.4(ERCC6):c.2829+17T>A	ERCC6, LOC126860933	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847031	NM_000124.4(ERCC6):c.1251G>T (p.Val417=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2846992	NM_000124.4(ERCC6):c.2868A>G (p.Gln956=)	ERCC6, LOC126860933	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834003	NM_000124.4(ERCC6):c.2827_2829+6del	ERCC6, LOC126860933	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2831430	NM_000124.4(ERCC6):c.1329A>C (p.Gly443=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2822826	NM_000124.4(ERCC6):c.1246_1249del (p.Lys416fs)	ERCC6, PGBD3 (K416fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2814817	NM_000124.4(ERCC6):c.1240C>T (p.Gln414Ter)	ERCC6, PGBD3 (Q414*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2813348	NM_000124.4(ERCC6):c.2782A>C (p.Arg928=)	ERCC6, LOC126860933	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802823	NM_000124.4(ERCC6):c.2830-17C>T	ERCC6, LOC126860933	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785525	NM_000124.4(ERCC6):c.2790C>T (p.Val930=)	ERCC6, LOC126860933	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782360	NM_000124.4(ERCC6):c.2830-19CT[4]	ERCC6, LOC126860933	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2777491	NM_000124.4(ERCC6):c.2793C>T (p.Ile931=)	ERCC6, LOC126860933	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759871	NM_000124.4(ERCC6):c.2769G>C (p.Leu923=)	ERCC6, LOC126860933	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759385	NM_000124.4(ERCC6):c.1397+9G>T	ERCC6, PGBD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720465	NM_000124.4(ERCC6):c.2924+14G>A	ERCC6, LOC126860933	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696344	NM_000124.4(ERCC6):c.2710-3_2741delinsAGATCTGGCTGGGAGCCA	ERCC6, LOC126860933	Indel (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2696199	NM_000124.4(ERCC6):c.2924+10C>T	ERCC6, LOC126860933	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695043	NM_000124.4(ERCC6):c.1209G>A (p.Glu403=)	ERCC6, PGBD3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2693474	NM_000124.4(ERCC6):c.1152A>G (p.Glu384=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2693465	NM_000124.4(ERCC6):c.1359A>C (p.Arg453=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640459	NM_001277058.2(ERCC6):c.1488A>G (p.Gln496=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640458	NM_001277058.2(ERCC6):c.1520A>T (p.Asp507Val)	ERCC6, PGBD3 (D39V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640457	NM_001277058.2(ERCC6):c.1683G>T (p.Thr561=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640456	NM_001277058.2(ERCC6):c.1752A>G (p.Lys584=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640455	NM_001277058.2(ERCC6):c.1755C>T (p.Ala585=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640454	NM_001277058.2(ERCC6):c.2362A>G (p.Thr788Ala)	ERCC6, PGBD3 (T320A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640453	NM_001277058.2(ERCC6):c.2442A>G (p.Gln814=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640451	NM_000124.4(ERCC6):c.2794T>A (p.Tyr932Asn)	ERCC6, LOC126860933 (Y932N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2607312	NM_001277058.2(ERCC6):c.1846C>A (p.Leu616Ile)	ERCC6, PGBD3 (L616I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2573367	NM_001277058.2(ERCC6):c.2881delinsAT (p.Leu961fs)	ERCC6, PGBD3 (L493fs +1 more)	Indel (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2542598	NM_000124.4(ERCC6):c.718A>G (p.Ile240Val)	ERCC6, ERCC6-PGBD3 (I240V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532216	NM_000124.4(ERCC6):c.1201G>A (p.Asp401Asn)	ERCC6, ERCC6-PGBD3 +1 more (D401N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503130	NM_001277058.2(ERCC6):c.2378A>G (p.Tyr793Cys)	ERCC6, PGBD3 (Y325C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2475324	NM_001277058.2(ERCC6):c.2405A>G (p.Gln802Arg)	ERCC6, ERCC6-PGBD3 +1 more (Q334R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470636	NM_000124.4(ERCC6):c.349A>G (p.Ile117Val)	ERCC6, ERCC6-PGBD3 (I117V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441296	NM_000124.4(ERCC6):c.2921A>G (p.His974Arg)	ERCC6, LOC126860933 (H974R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441295	NM_000124.4(ERCC6):c.2881A>T (p.Arg961Trp)	ERCC6, LOC126860933 (R961W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441294	NM_000124.4(ERCC6):c.2179G>T (p.Ala727Ser)	ERCC6 (A727S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441293	NM_000124.4(ERCC6):c.2645A>C (p.Tyr882Ser)	ERCC6 (Y882S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441292	NM_000124.4(ERCC6):c.1700G>C (p.Gly567Ala)	ERCC6 (G567A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441291	NM_000124.4(ERCC6):c.3238G>A (p.Val1080Ile)	ERCC6 (V1080I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441290	NM_000124.4(ERCC6):c.3782G>A (p.Gly1261Asp)	ERCC6 (G1261D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440072	NM_000124.4(ERCC6):c.3500del (p.Ala1167fs)	ERCC6 (A1167fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2430381	NM_000124.4(ERCC6):c.22del (p.His8fs)	ERCC6, ERCC6-PGBD3 (H8fs)	Deletion (frameshift variant)	DE SANCTIS-CACCHIONE SYNDROME +2 more	GPathogenic
Select item 2429127	NM_001277058.2(ERCC6):c.3166G>A (p.Val1056Ile)	ERCC6, PGBD3 (V1056I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2428167	NM_000124.4(ERCC6):c.203G>C (p.Arg68Thr)	ERCC6-PGBD3, ERCC6 (R68T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415930	NM_000124.4(ERCC6):c.2710-20G>A	ERCC6, LOC126860933	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2403755	NM_000124.4(ERCC6):c.809G>A (p.Gly270Asp)	ERCC6-PGBD3, ERCC6 (G270D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389282	NM_001277058.2(ERCC6):c.2956C>T (p.Arg986Cys)	ERCC6-PGBD3, PGBD3 +1 more (R518C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371315	NM_001277058.2(ERCC6):c.2527G>A (p.Val843Met)	PGBD3, ERCC6 +1 more (V375M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359473	NM_001277058.2(ERCC6):c.2263C>T (p.Arg755Trp)	PGBD3, ERCC6 +1 more (R755W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352993	NM_000124.4(ERCC6):c.503A>C (p.Asn168Thr)	ERCC6, ERCC6-PGBD3 (N168T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342176	NM_001277058.2(ERCC6):c.2741A>G (p.Gln914Arg)	ERCC6-PGBD3, PGBD3 +1 more (Q446R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333369	NM_001277058.2(ERCC6):c.2114T>G (p.Leu705Trp)	ERCC6-PGBD3, ERCC6 +1 more (L705W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328197	NM_000124.4(ERCC6):c.179G>T (p.Gly60Val)	ERCC6, ERCC6-PGBD3 (G60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298334	NM_000124.4(ERCC6):c.309C>G (p.Asp103Glu)	ERCC6-PGBD3, ERCC6 (D103E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297546	NM_001277058.2(ERCC6):c.1495G>A (p.Glu499Lys)	PGBD3, ERCC6 +1 more (E31K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293003	NM_001277058.2(ERCC6):c.1537G>C (p.Glu513Gln)	PGBD3, ERCC6-PGBD3 +1 more (E45Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288664	NM_001277058.2(ERCC6):c.1810T>C (p.Phe604Leu)	PGBD3, ERCC6 +1 more (F604L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230633	NM_000124.4(ERCC6):c.543+4A>C	ERCC6-PGBD3, ERCC6	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2230004	NM_000124.4(ERCC6):c.2830G>A (p.Ala944Thr)	ERCC6, LOC126860933 (A944T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229530	NM_000124.4(ERCC6):c.178G>A (p.Gly60Arg)	ERCC6, ERCC6-PGBD3 (G60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220771	NM_000124.4(ERCC6):c.409C>G (p.Leu137Val)	ERCC6-PGBD3, ERCC6 (L137V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216128	NM_001277058.2(ERCC6):c.2602G>C (p.Asp868His)	ERCC6-PGBD3, ERCC6 +1 more (D400H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211963	NM_001277058.2(ERCC6):c.1682C>T (p.Thr561Met)	ERCC6, ERCC6-PGBD3 +1 more (T561M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2202676	NM_001277058.2(ERCC6):c.3029G>A (p.Arg1010His)	PGBD3, ERCC6 (R542H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2201940	NM_000124.4(ERCC6):c.2766C>A (p.Asn922Lys)	ERCC6, LOC126860933 (N922K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200932	NM_000124.4(ERCC6):c.2714C>T (p.Thr905Ile)	ERCC6, LOC126860933 (T905I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2199781	NM_000124.4(ERCC6):c.335A>G (p.Gln112Arg)	ERCC6, ERCC6-PGBD3 (Q112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2199487	NM_000124.4(ERCC6):c.401G>A (p.Arg134Gln)	ERCC6-PGBD3, ERCC6 (R134Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2198816	NM_000124.4(ERCC6):c.1339C>T (p.Arg447Trp)	ERCC6, PGBD3 (R447W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2197452	NM_001277058.2(ERCC6):c.2785G>A (p.Gly929Arg)	PGBD3, ERCC6 (G929R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2188712	NM_000124.4(ERCC6):c.752A>G (p.Gln251Arg)	ERCC6, ERCC6-PGBD3 (Q251R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2182128	NM_000124.4(ERCC6):c.107G>A (p.Gly36Asp)	ERCC6, ERCC6-PGBD3 (G36D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181090	NM_000124.4(ERCC6):c.2819C>G (p.Thr940Arg)	ERCC6, LOC126860933 (T940R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176613	NM_000124.4(ERCC6):c.883G>A (p.Ala295Thr)	ERCC6, ERCC6-PGBD3 (A295T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173293	NM_000124.4(ERCC6):c.1358G>A (p.Arg453Gln)	PGBD3, ERCC6 +1 more (R453Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171713	NM_000124.4(ERCC6):c.1178C>T (p.Ala393Val)	ERCC6, PGBD3 (A393V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2170223	NM_000124.4(ERCC6):c.733A>G (p.Met245Val)	ERCC6-PGBD3, ERCC6 (M245V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165873	NM_000124.4(ERCC6):c.2752G>A (p.Gly918Ser)	ERCC6, LOC126860933 (G918S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165448	NM_000124.4(ERCC6):c.1397+6T>C	ERCC6, PGBD3 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2163792	NM_000124.4(ERCC6):c.54A>T (p.Leu18Phe)	ERCC6, ERCC6-PGBD3 (L18F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161088	NM_000124.4(ERCC6):c.76A>G (p.Asn26Asp)	ERCC6-PGBD3, ERCC6 (N26D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160763	NM_000124.4(ERCC6):c.1191A>T (p.Gly397=)	ERCC6, PGBD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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