ClinVar for MedGen (Select 75656) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 142

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441812	NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)	ERCC2 (D673fs)	Deletion (frameshift variant)	Trichothiodystrophy 1, photosensitive +2 more	GLikely pathogenic
Select item 2431852	NM_000400.4(ERCC2):c.2186dup (p.His729fs)	ERCC2 (H729fs)	Duplication (frameshift variant)	Xeroderma pigmentosum, group D	GLikely pathogenic
Select item 2429148	NM_000400.4(ERCC2):c.[1381C>G;2150C>G]	ERCC2 (L461V +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum	GPathogenic
Select item 2175981	NM_000400.4(ERCC2):c.1132C>T (p.Arg378Cys)	ERCC2 (R354C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1685773	NM_000400.4(ERCC2):c.851del (p.Glu284fs)	ERCC2 (E260fs +1 more)	Deletion (frameshift variant)	Xeroderma pigmentosum, group D	GPathogenic
Select item 1685772	NM_000400.4(ERCC2):c.949+5G>A	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group D +1 more	GConflicting classifications of pathogenicity
Select item 1430338	NM_000400.4(ERCC2):c.2084G>A (p.Arg695His)	ERCC2 (R695H)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +4 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 1394100	NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr)	ERCC2 (A10T +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +3 more	GUncertain significance
Select item 1329484	NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly)	ERCC2 (R658G)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +1 more	GLikely pathogenic
Select item 1322829	NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer)	ERCC2	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 1320637	NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln)	ERCC2 (E143Q +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +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
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 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 1162241	NM_000400.4(ERCC2):c.2010C>T (p.Gly670=)	ERCC2	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group D	GLikely pathogenic
Select item 1029822	NM_000400.4(ERCC2):c.949+3G>T	ERCC2	Single nucleotide variant (intron variant)	ERCC2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1028729	NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs)	ERCC2 (K671fs)	Insertion (frameshift variant)	not provided +2 more	GPathogenic
Select item 894712	NM_000400.4(ERCC2):c.32A>G (p.Tyr11Cys)	ERCC2 (Y11C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 894711	NM_000400.4(ERCC2):c.57C>T (p.Pro19=)	ERCC2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 894710	NM_000400.4(ERCC2):c.184-5G>C	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 894709	NM_000400.4(ERCC2):c.229G>A (p.Val77Met)	ERCC2 (V53M +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +1 more	GUncertain significance
Select item 894686	NM_000400.4(ERCC2):c.978C>G (p.Ala326=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 894685	NM_000400.4(ERCC2):c.1307+14C>G	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group D +1 more	GConflicting classifications of pathogenicity
Select item 894684	NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)	ERCC2 (V447I)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +2 more	GConflicting classifications of pathogenicity
Select item 894683	NM_000400.4(ERCC2):c.1349G>A (p.Arg450His)	ERCC2 (R450H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 894658	NM_000400.4(ERCC2):c.2190+11C>T	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group D +1 more	GConflicting classifications of pathogenicity
Select item 893796	NM_000400.4(ERCC2):c.348T>C (p.Cys116=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 893795	NM_000400.4(ERCC2):c.527A>G (p.Asn176Ser)	ERCC2 (N152S +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +1 more	GUncertain significance
Select item 893766	NM_000400.4(ERCC2):c.1606G>A (p.Val536Met)	ERCC2 (V536M)	Single nucleotide variant (missense variant)	Trichothiodystrophy 1, photosensitive +4 more	GUncertain significance
Select item 893765	NM_000400.4(ERCC2):c.1725C>T (p.Ala575=)	ERCC2	Single nucleotide variant (synonymous variant)	ERCC2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 893739	NM_000400.4(ERCC2):c.2247G>A (p.Thr749=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 893738	NM_000400.4(ERCC2):c.2278C>T (p.Leu760Phe)	ERCC2 (L760F)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893737	NM_000400.4(ERCC2):c.*68G>A	ERCC2	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893498	NM_000400.4(ERCC2):c.607A>G (p.Asn203Asp)	ERCC2 (N179D +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893497	NM_000400.4(ERCC2):c.739A>G (p.Met247Val)	ERCC2 (M247V +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893464	NM_000400.4(ERCC2):c.1774C>T (p.Arg592Cys)	ERCC2 (R592C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +1 more	GUncertain significance
Select item 893463	NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)	ERCC2 (R601W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 893462	NM_000400.4(ERCC2):c.1815C>T (p.Ser605=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 893461	NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala)	ERCC2 (V611A)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +2 more	GUncertain significance
Select item 893434	NM_000400.4(ERCC2):c.*70C>T	ERCC2	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893433	NM_000400.4(ERCC2):c.*78C>A	ERCC2	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893432	NM_177417.3(KLC3):c.*135C>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893431	NM_177417.3(KLC3):c.*110C>A	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893430	NM_177417.3(KLC3):c.*105G>A	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 892701	NM_000400.4(ERCC2):c.902C>T (p.Thr301Met)	ERCC2 (T277M +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 892700	NM_000400.4(ERCC2):c.930G>C (p.Leu310=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 892656	NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile)	ERCC2 (V623I)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +2 more	GUncertain significance
Select item 892655	NM_000400.4(ERCC2):c.1891C>T (p.Arg631Cys)	ERCC2 (R631C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +1 more	GUncertain significance
Select item 892629	NM_177417.3(KLC3):c.*91C>A	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 892628	NM_177417.3(KLC3):c.*56C>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GLikely benign
Select item 892627	NM_177417.3(KLC3):c.*48G>A	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 804793	NM_000400.4(ERCC2):c.6G>C (p.Lys2Asn)	ERCC2 (K2N)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group D +1 more	GUncertain significance
Select item 803568	NM_000400.4(ERCC2):c.1845G>A (p.Gly615=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
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 795182	NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile)	ERCC2 (V476I)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +2 more	GConflicting classifications of pathogenicity
Select item 785627	NM_000400.4(ERCC2):c.2191-4G>A	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum +3 more	GConflicting classifications of pathogenicity
Select item 783844	NM_000400.4(ERCC2):c.1832-6C>T	ERCC2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 761183	NM_000400.4(ERCC2):c.387C>T (p.Asp129=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 754097	NM_000400.4(ERCC2):c.156G>A (p.Leu52=)	ERCC2	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group D +3 more	GConflicting classifications of pathogenicity
Select item 750391	NM_000400.4(ERCC2):c.552G>C (p.Gly184=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 738297	NM_000400.4(ERCC2):c.1789C>T (p.Leu597=)	ERCC2	Single nucleotide variant (synonymous variant)	ERCC2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 712863	NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 709003	NM_000400.4(ERCC2):c.1866C>T (p.Gly622=)	ERCC2	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group D +3 more	GConflicting classifications of pathogenicity
Select item 708830	NM_000400.4(ERCC2):c.1377+8C>T	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group D +1 more	GConflicting classifications of pathogenicity
Select item 695543	NM_000400.4(ERCC2):c.1584C>A (p.Ser528=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 632315	NM_001983.4(ERCC1):c.122_123dup (p.Ser42fs)	ERCC1 (S42fs)	Duplication (frameshift variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 632314	NM_001983.4(ERCC1):c.422del (p.Leu141fs)	ERCC1 (L141fs)	Deletion (frameshift variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 631815	NM_000400.4(ERCC2):c.452_461del (p.Ser151fs)	ERCC2 (S127fs +1 more)	Deletion (frameshift variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 631814	NM_000400.4(ERCC2):c.816-2A>G	ERCC2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 627442	NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter)	ERCC2 (E41* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group D	GPathogenic
Select item 627441	NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter)	ERCC2 (E100* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group D	GPathogenic
Select item 627440	NM_000400.4(ERCC2):c.184-1G>T	ERCC2	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group D	GPathogenic
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 402226	NM_000400.4(ERCC2):c.594+2_594+5del	ERCC2	Deletion (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 329532	NM_000400.4(ERCC2):c.5+6A>C	ERCC2	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group D +1 more	GUncertain significance
Select item 329530	NM_000400.4(ERCC2):c.147A>G (p.Thr49=)	ERCC2	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329529	NM_000400.4(ERCC2):c.183+2T>A	ERCC2	Single nucleotide variant (splice donor variant)	Cerebrooculofacioskeletal syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 329528	NM_000400.4(ERCC2):c.308C>T (p.Pro103Leu)	ERCC2 (P103L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 329527	NM_000400.4(ERCC2):c.572C>T (p.Pro191Leu)	ERCC2 (P191L +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329526	NM_000400.4(ERCC2):c.691G>A (p.Val231Met)	ERCC2 (V231M +1 more)	Single nucleotide variant (missense variant)	not provided +1 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 329524	NM_000400.4(ERCC2):c.740T>C (p.Met247Thr)	ERCC2 (M247T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 329523	NM_000400.4(ERCC2):c.749A>C (p.Asn250Thr)	ERCC2 (N250T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 329521	NM_000400.4(ERCC2):c.902C>A (p.Thr301Lys)	ERCC2 (T301K +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329520	NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu)	ERCC2 (Q316E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 329519	NM_000400.4(ERCC2):c.949+9C>T	ERCC2	Single nucleotide variant (intron variant)	ERCC2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 329518	NM_000400.4(ERCC2):c.950-13C>A	ERCC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 329517	NM_000400.4(ERCC2):c.988C>T (p.Leu330=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 329516	NM_000400.4(ERCC2):c.1118+4C>G	ERCC2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 329515	NM_000400.4(ERCC2):c.1237+5G>A	ERCC2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329514	NM_000400.4(ERCC2):c.1276C>T (p.Pro426Ser)	ERCC2 (P426S)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D +1 more	GUncertain significance
Select item 329513	NM_000400.4(ERCC2):c.1363A>G (p.Ile455Val)	ERCC2 (I455V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 329512	NM_000400.4(ERCC2):c.1404C>T (p.Pro468=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 329510	NM_000400.4(ERCC2):c.1644C>T (p.Thr548=)	ERCC2	Single nucleotide variant (synonymous variant)	ERCC2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 329509	NM_000400.4(ERCC2):c.1649C>T (p.Ala550Val)	ERCC2 (A550V)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329508	NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	ERCC2 (R616P)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 2 +5 more	GPathogenic
Select item 329507	NM_000400.4(ERCC2):c.1905G>A (p.Ala635=)	ERCC2	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum +3 more	GConflicting classifications of pathogenicity
Select item 329506	NM_000400.4(ERCC2):c.1962C>T (p.Phe654=)	ERCC2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 329505	NM_000400.4(ERCC2):c.2094G>A (p.Gln698=)	ERCC2	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group D	GUncertain significance

<< First< Prev

Page of 2