ClinVar for MedGen (Select 934750) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3595451	NM_000124.4(ERCC6):c.319C>T (p.Gln107Ter)	ERCC6 (Q107*)	Single nucleotide variant (nonsense)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595442	NM_000124.4(ERCC6):c.547C>T (p.Gln183Ter)	ERCC6 (Q183*)	Single nucleotide variant (nonsense)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595427	NM_000124.4(ERCC6):c.787dup (p.Ile263fs)	ERCC6 (I263fs)	Duplication (frameshift variant)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595413	NM_000124.4(ERCC6):c.1088del (p.Ala363fs)	ERCC6 (A363fs)	Deletion (frameshift variant)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595406	NM_000124.4(ERCC6):c.1115_1116del (p.Glu371_Ser372insTer)	ERCC6	Deletion (nonsense)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595394	NM_001277058.2(ERCC6):c.1418dup (p.Ser474fs)	ERCC6, PGBD3 (S6fs +1 more)	Duplication (frameshift variant +1 more)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595390	NM_001277058.2(ERCC6):c.1867_1868insG (p.Ile623fs)	ERCC6, PGBD3 (I155fs +1 more)	Insertion (frameshift variant +1 more)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595386	NM_001277058.2(ERCC6):c.1882A>G (p.Lys628Glu)	ERCC6, PGBD3 (K160E +1 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 11 +6 more	GUncertain significance
Select item 3595382	NM_001277058.2(ERCC6):c.2435del (p.Pro812fs)	ERCC6, PGBD3 (P812fs +1 more)	Deletion (frameshift variant +1 more)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595376	NM_001277058.2(ERCC6):c.2731_2732del (p.Lys911fs)	ERCC6, PGBD3 (K443fs +1 more)	Deletion (frameshift variant +1 more)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595368	NM_001277058.2(ERCC6):c.2901G>A (p.Trp967Ter)	ERCC6, PGBD3 (W967* +1 more)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595350	NM_000124.4(ERCC6):c.1531C>T (p.Gln511Ter)	ERCC6 (Q511*)	Single nucleotide variant (nonsense)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595325	NM_000124.4(ERCC6):c.1993-5A>G	ERCC6	Single nucleotide variant (intron variant)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595303	NM_000124.4(ERCC6):c.2260_2264del (p.Leu754fs)	ERCC6 (L754fs)	Deletion (frameshift variant)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595280	NM_000124.4(ERCC6):c.2683C>T (p.Gln895Ter)	ERCC6 (Q895*)	Single nucleotide variant (nonsense)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595247	NM_000124.4(ERCC6):c.3539dup (p.His1181fs)	ERCC6 (H1181fs)	Duplication (frameshift variant)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 3595241	NM_000124.4(ERCC6):c.3656del (p.Gly1219fs)	ERCC6 (G1219fs)	Deletion (frameshift variant)	Premature ovarian failure 11 +6 more	GLikely pathogenic
Select item 2585514	NM_000124.4(ERCC6):c.4025A>C (p.Gln1342Pro)	ERCC6 (Q1342P)	Single nucleotide variant (missense variant)	Premature ovarian failure 11	GUncertain significance
Select item 2151661	NM_000124.4(ERCC6):c.310G>C (p.Val104Leu)	ERCC6 (V104L)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 2141483	NM_000124.4(ERCC6):c.3662G>A (p.Arg1221Gln)	ERCC6 (R1221Q)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 2000913	NM_000124.4(ERCC6):c.1717_1720del (p.Cys573fs)	ERCC6 (C573fs)	Microsatellite (frameshift variant)	Age related macular degeneration 5 +7 more	GPathogenic/Likely pathogenic
Select item 1704479	NM_000124.4(ERCC6):c.2870T>G (p.Val957Gly)	ERCC6, LOC126860933 (V957G)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 1521434	NM_000124.4(ERCC6):c.2037A>G (p.Gln679=)	ERCC6	Single nucleotide variant (synonymous variant)	Cerebrooculofacioskeletal syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 1516113	NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu)	ERCC6 (F1339L)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1431181	NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser)	ERCC6 (N902S)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1333599	NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu)	ERCC6 (I738L)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1321658	NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys)	ERCC6 (R241C)	Single nucleotide variant (missense variant)	Premature ovarian failure 11 +7 more	GUncertain significance
Select item 1214221	NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met)	ERCC6 (K607M)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1131890	NM_000124.4(ERCC6):c.804A>G (p.Ala268=)	ERCC6	Single nucleotide variant (synonymous variant)	Cockayne syndrome type 2 +7 more	GLikely benign
Select item 1073323	NM_000124.4(ERCC6):c.2170-1G>A	ERCC6	Single nucleotide variant (splice acceptor variant)	UV-sensitive syndrome 1 +7 more	GPathogenic/Likely pathogenic
Select item 1068941	NM_000124.4(ERCC6):c.2792_2802del (p.Ile931fs)	LOC126860933, ERCC6 (I931fs)	Deletion (frameshift variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 1034077	NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)	ERCC6 (T699fs)	Duplication (frameshift variant)	Age related macular degeneration 5 +7 more	GPathogenic
Select item 998032	NM_000124.4(ERCC6):c.[1727C>G;1834C>T]	ERCC6 (R612* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebrooculofacioskeletal syndrome 1	GPathogenic
Select item 878360	NM_000124.4(ERCC6):c.3983+4A>G	ERCC6	Single nucleotide variant (intron variant)	UV-sensitive syndrome 1 +6 more	GUncertain significance
Select item 877387	NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly)	ERCC6 (R1298G)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 835111	NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter)	ERCC6 (K255*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +8 more	GPathogenic/Likely pathogenic
Select item 806468	NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala)	ERCC6, PGBD3 (V851A +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebrooculofacioskeletal syndrome 1 +8 more	GUncertain significance
Select item 556870	NM_000124.4(ERCC6):c.207dup (p.Pro70fs)	ERCC6 (P70fs)	Duplication (frameshift variant)	UV-sensitive syndrome 1 +7 more	GPathogenic/Likely pathogenic
Select item 551705	NM_000124.4(ERCC6):c.-14-2A>G	ERCC6	Single nucleotide variant (intron variant +1 more)	Cerebrooculofacioskeletal syndrome 1 +7 more	GUncertain significance
Select item 551535	NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)	ERCC6 (Q21*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +10 more	GPathogenic/Likely pathogenic
Select item 551374	NM_000124.4(ERCC6):c.2287-2A>G	ERCC6	Single nucleotide variant (splice acceptor variant)	Cerebrooculofacioskeletal syndrome 1 +8 more	GPathogenic/Likely pathogenic
Select item 550722	NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)	ERCC6 (K337*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +7 more	GPathogenic/Likely pathogenic
Select item 550657	NM_000124.4(ERCC6):c.2286+1G>A	ERCC6	Single nucleotide variant (splice donor variant)	UV-sensitive syndrome 1 +7 more	GPathogenic/Likely pathogenic
Select item 522698	NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg)	ERCC6 (W851R)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +7 more	GPathogenic
Select item 502165	NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)	LOC126860933, ERCC6 (R947*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 432341	NM_000124.4(ERCC6):c.355G>T (p.Glu119Ter)	ERCC6 (E119*)	Single nucleotide variant (nonsense)	UV-sensitive syndrome 1 +7 more	GPathogenic/Likely pathogenic
Select item 430298	NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)	ERCC6 (R612*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 300073	NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile)	ERCC6 (V709I)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 300064	NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del)	ERCC6 (E829del)	Microsatellite (inframe_deletion)	Cockayne syndrome +9 more	GUncertain significance
Select item 300062	NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys)	ERCC6 (Y882C)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +7 more	GUncertain significance
Select item 300055	NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu)	ERCC6 (K997E)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 300041	NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu)	ERCC6 (V1308L)	Single nucleotide variant (missense variant)	Cockayne syndrome +11 more	GBenign/Likely benign
Select item 225905	NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)	ERCC6 (E215*)	Single nucleotide variant (nonsense)	DE SANCTIS-CACCHIONE SYNDROME +7 more	GPathogenic/Likely pathogenic
Select item 225904	NM_001277058.2(ERCC6):c.2237G>A (p.Gly746Asp)	ERCC6, PGBD3 (G746D +1 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 11	GPathogenic
Select item 212733	NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)	ERCC6 (Q156*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +7 more	GPathogenic
Select item 195555	NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser)	ERCC6 (G1356S)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 190173	NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly)	ERCC6 (R1396G)	Single nucleotide variant (missense variant)	DE SANCTIS-CACCHIONE SYNDROME +9 more	GUncertain significance
Select item 190171	NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)	ERCC6 (R1318fs)	Deletion (frameshift variant)	Cockayne syndrome type 2 +8 more	GPathogenic/Likely pathogenic
Select item 190170	NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter)	ERCC6 (Q1302*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2 +7 more	GPathogenic
Select item 190167	NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)	ERCC6 (Y1179fs)	Deletion (frameshift variant)	Cockayne syndrome type 2 +8 more	GPathogenic/Likely pathogenic
Select item 190164	NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)	ERCC6 (Q1041P)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +12 more	GConflicting classifications of pathogenicity
Select item 190163	NM_000124.4(ERCC6):c.2830-2A>G	LOC126860933, ERCC6	Single nucleotide variant (splice acceptor variant)	not provided +7 more	GPathogenic
Select item 190162	NM_000124.4(ERCC6):c.2599-26A>G	ERCC6	Single nucleotide variant (intron variant)	Cockayne syndrome type 2 +8 more	GPathogenic/Likely pathogenic
Select item 190160	NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)	ERCC6 (Q723*)	Single nucleotide variant (nonsense)	Cockayne syndrome type 2 +10 more	GPathogenic/Likely pathogenic
Select item 190156	NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)	ERCC6 (R666C)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +12 more	GConflicting classifications of pathogenicity
Select item 190151	NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn)	ERCC6 (K553N)	Single nucleotide variant (missense variant)	Lung cancer +8 more	GUncertain significance
Select item 190150	NM_000124.4(ERCC6):c.1518del (p.Lys506fs)	ERCC6 (K506fs)	Deletion (frameshift variant)	Cockayne syndrome type 2 +7 more	GPathogenic/Likely pathogenic
Select item 190147	NM_000124.4(ERCC6):c.1526+1G>T	ERCC6	Single nucleotide variant (splice donor variant)	Cockayne syndrome type 2 +8 more	GPathogenic/Likely pathogenic
Select item 1711	NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)	ERCC6 (R683*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +8 more	GPathogenic/Likely pathogenic
Select item 1705	NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs)	ERCC6 (T659fs)	Duplication (frameshift variant)	Lung cancer +7 more	GPathogenic
Select item 1703	NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	ERCC6, PGBD3 (R453*)	Single nucleotide variant (nonsense +1 more)	not provided +8 more	GPathogenic
Select item 1701	NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	ERCC6 (R735*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +8 more	GPathogenic

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Items: 72