C0268138[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 329496	NM_177417.3(KLC3):c.*100C>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GLikely benign
Select item 16781	NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)	ERCC2 (A725P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 16792	NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	ERCC2 (R722W)	Single nucleotide variant (missense variant)	ERCC2-related disorder +6 more	GPathogenic
Select item 1430338	NM_000400.4(ERCC2):c.2084G>A (p.Arg695His)	ERCC2 (R695H)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +4 more	GUncertain significance
Select item 264679	NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	ERCC2	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +3 more	GPathogenic
Select item 16793	NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	ERCC2	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 16785	NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)	ERCC2 (R658C)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +4 more	GPathogenic/Likely pathogenic
Select item 134099	NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)	ERCC2 (Q629H)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +5 more	GUncertain significance
Select item 329508	NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	ERCC2 (R616P)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +5 more	GPathogenic
Select item 256015	NM_000400.4(ERCC2):c.1737C>T (p.Val579=)	ERCC2	Single nucleotide variant (synonymous variant)	Trichothiodystrophy 1, photosensitive +5 more	GBenign/Likely benign
Select item 134095	NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	ERCC2 (F568fs)	Deletion (frameshift variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 712863	NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 893766	NM_000400.4(ERCC2):c.1606G>A (p.Val536Met)	ERCC2 (V536M)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +5 more	GUncertain significance
Select item 695543	NM_000400.4(ERCC2):c.1584C>A (p.Ser528=)	ERCC2	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum +5 more	GLikely benign
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 797842	NM_000400.4(ERCC2):c.1317C>T (p.Asp439=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 329520	NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu)	ERCC2 (Q316E +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +3 more	GUncertain significance
Select item 1397433	NM_000400.4(ERCC2):c.860G>A (p.Arg287His)	ERCC2 (R263H +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +3 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 1320637	NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln)	ERCC2 (E143Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 134112	NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly)	ERCC2 (E95G +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +4 more	GBenign/Likely benign
Select item 1394100	NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr)	ERCC2 (A10T +1 more)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +3 more	GUncertain significance
Select item 1319424	NM_000400.4(ERCC2):c.92C>T (p.Thr31Met)	ERCC2 (T31M +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +3 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 23