"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134105	NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)	ERCC2 (K751Q)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 256019	NM_000400.4(ERCC2):c.2190+12G>A	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group D +2 more	GBenign
Select item 1206329	NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln)	ERCC2 (R730Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 16792	NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	ERCC2 (R722W)	Single nucleotide variant (missense variant)	ERCC2-related conditions +7 more	GPathogenic
Select item 256018	NM_000400.4(ERCC2):c.2133C>T (p.Asp711=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 329504	NM_000400.4(ERCC2):c.2127C>T (p.Thr709=)	ERCC2	Single nucleotide variant (synonymous variant)	ERCC2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 134097	NM_000400.4(ERCC2):c.1802G>A (p.Arg601Gln)	ERCC2 (R601Q)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +2 more	GUncertain significance
Select item 1206217	NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln)	ERCC2 (R518Q)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +4 more	GUncertain significance
Select item 134117	NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)	ERCC2 (D312N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1174636	NM_000400.4(ERCC2):c.733G>A (p.Asp245Asn)	ERCC2 (D221N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1175040	NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu)	ERCC2 (D216E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 329525	NM_000400.4(ERCC2):c.718+6G>T	ERCC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 736815	NM_000400.4(ERCC2):c.699C>T (p.Phe233=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 739584	NM_000400.4(ERCC2):c.687C>T (p.Ala229=)	ERCC2	Single nucleotide variant (synonymous variant)	ERCC2-related condition +3 more	GBenign/Likely benign
Select item 546846	NM_000400.4(ERCC2):c.601C>T (p.His201Tyr)	ERCC2 (H201Y +1 more)	Single nucleotide variant (missense variant)	ERCC2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 256022	NM_000400.4(ERCC2):c.477+9A>C	ERCC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 256021	NM_000400.4(ERCC2):c.468A>C (p.Arg156=)	ERCC2	Single nucleotide variant (synonymous variant)	Trichothiodystrophy 1, photosensitive +4 more	GBenign
Select item 134112	NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly)	ERCC2 (E95G +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +4 more	GBenign/Likely benign
Select item 1174612	NM_000400.4(ERCC2):c.260T>C (p.Leu87Pro)	ERCC2 (L63P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance