ClinVar for MedGen (Select 934750) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1521434	NM_000124.4(ERCC6):c.2037A>G (p.Gln679=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided +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)	Cerebrooculofacioskeletal syndrome 1 +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)	UV-sensitive syndrome 1 +7 more	GUncertain significance
Select item 1214221	NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met)	ERCC6 (K607M)	Single nucleotide variant (missense variant)	DE SANCTIS-CACCHIONE SYNDROME +7 more	GUncertain significance
Select item 1131890	NM_000124.4(ERCC6):c.804A>G (p.Ala268=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided +7 more	GLikely benign
Select item 1034077	NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)	ERCC6 (T699fs)	Duplication (frameshift variant)	Cerebrooculofacioskeletal syndrome 1 +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)	Cerebrooculofacioskeletal syndrome 1 +6 more	GUncertain significance
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 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 551374	NM_000124.4(ERCC6):c.2287-2A>G	ERCC6	Single nucleotide variant (splice acceptor variant)	Cockayne syndrome type 2 +8 more	GPathogenic/Likely pathogenic
Select item 430298	NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)	ERCC6 (R612*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 1 +8 more	GPathogenic/Likely pathogenic
Select item 300073	NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile)	ERCC6 (V709I)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +7 more	GConflicting classifications of pathogenicity
Select item 300062	NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys)	ERCC6 (Y882C)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 300055	NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu)	ERCC6 (K997E)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +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)	not provided +11 more	GBenign/Likely benign
Select item 225905	NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)	ERCC6 (E215*)	Single nucleotide variant (nonsense)	not provided +3 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)	not provided +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)	not specified +9 more	GUncertain significance
Select item 190164	NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)	ERCC6 (Q1041P)	Single nucleotide variant (missense variant)	Cockayne syndrome +12 more	GConflicting classifications of pathogenicity
Select item 190163	NM_000124.4(ERCC6):c.2830-2A>G	ERCC6, LOC126860933	Single nucleotide variant (splice acceptor variant)	not provided +7 more	GPathogenic
Select item 190160	NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)	ERCC6 (Q723*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +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 +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)	not provided +8 more	GUncertain significance
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 1703	NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	ERCC6, PGBD3 (R453*)	Single nucleotide variant (nonsense +1 more)	not provided +7 more	GPathogenic
Select item 1701	NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	ERCC6 (R735*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic

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Items: 32