ClinVar for MedGen (Select 75657) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068061	NM_000123.4(ERCC5):c.2941_2944del (p.Leu981fs)	BIVM-ERCC5, ERCC5 (L1435fs +1 more)	Deletion (frameshift variant)	Xeroderma pigmentosum, group G	GLikely pathogenic
Select item 3064167	NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)	BIVM-ERCC5, ERCC5 (R523* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group G	GLikely pathogenic
Select item 2627959	NM_000123.4(ERCC5):c.323del (p.Lys108fs)	BIVM-ERCC5, ERCC5 (K108fs +1 more)	Deletion (frameshift variant)	Xeroderma pigmentosum, group G	GLikely pathogenic
Select item 2443990	NM_000123.4(ERCC5):c.2182T>A (p.Trp728Arg)	BIVM-ERCC5, ERCC5 +1 more (W1182R +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 2443988	NM_000123.4(ERCC5):c.381-2A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (splice acceptor variant)	Xeroderma pigmentosum, group G	GLikely pathogenic
Select item 1705488	NM_000123.4(ERCC5):c.380+3A>T	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 1335951	NM_000123.4(ERCC5):c.673-2A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1305806	NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser)	ERCC5, BIVM-ERCC5 (A347S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1252023	NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr)	BIVM-ERCC5, ERCC5 +1 more (D1252Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 997612	NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr)	BIVM-ERCC5, ERCC5 (K1185T +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +3 more	GUncertain significance
Select item 883508	NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg)	BIVM-ERCC5, ERCC5 (S1146R +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +1 more	GUncertain significance
Select item 883507	NM_000123.4(ERCC5):c.3421G>A (p.Gly1141Arg)	BIVM-ERCC5, ERCC5 (G1141R +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 883462	NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp)	BIVM-ERCC5, ERCC5 +1 more (R819W +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GUncertain significance
Select item 883461	NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr)	LOC126861834, BIVM-ERCC5 +1 more (A1249T +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +2 more	GUncertain significance
Select item 883460	NM_000123.4(ERCC5):c.2248C>T (p.Leu750=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 883416	NM_000123.4(ERCC5):c.1043T>G (p.Met348Arg)	ERCC5, BIVM-ERCC5 (M802R +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 883415	NM_000123.4(ERCC5):c.1030A>G (p.Thr344Ala)	BIVM-ERCC5, ERCC5 (T344A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 883414	NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys)	BIVM-ERCC5, ERCC5 (S765C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 883374	NM_000123.4(ERCC5):c.-146A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 883373	NM_000123.4(ERCC5):c.-192A>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 882723	NM_000123.4(ERCC5):c.3411C>T (p.Pro1137=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 882722	NM_000123.4(ERCC5):c.3252C>T (p.Cys1084=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 882682	NM_000123.4(ERCC5):c.2191A>T (p.Ile731Phe)	BIVM-ERCC5, ERCC5 +1 more (I1185F +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 882681	NM_000123.4(ERCC5):c.1955-6G>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 882680	NM_000123.4(ERCC5):c.1954+5G>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 882639	NM_000123.4(ERCC5):c.664A>G (p.Met222Val)	BIVM-ERCC5, ERCC5 (M676V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 882587	NM_000123.3(ERCC5):c.-380C>T	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 882372	NM_000123.4(ERCC5):c.479A>T (p.Glu160Val)	BIVM-ERCC5, ERCC5 (E614V +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 882371	NM_000123.4(ERCC5):c.293C>T (p.Ala98Val)	BIVM-ERCC5, ERCC5 (A98V +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GUncertain significance
Select item 881520	NM_000123.4(ERCC5):c.1771A>C (p.Ser591Arg)	BIVM-ERCC5, ERCC5 (S1045R +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 881519	NM_000123.4(ERCC5):c.1498C>T (p.Arg500Trp)	BIVM-ERCC5, ERCC5 (R954W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 881143	NM_000123.4(ERCC5):c.*88C>T	BIVM-ERCC5, ERCC5	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 881142	NM_000123.4(ERCC5):c.3533G>A (p.Arg1178His)	BIVM-ERCC5, ERCC5 (R1632H +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GConflicting classifications of pathogenicity
Select item 881101	NM_000123.4(ERCC5):c.2756G>A (p.Arg919Gln)	BIVM-ERCC5, ERCC5 (R1373Q +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 881100	NM_000123.4(ERCC5):c.2604T>A (p.Thr868=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 881058	NM_000123.4(ERCC5):c.1132G>A (p.Val378Ile)	BIVM-ERCC5, ERCC5 (V378I +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 881016	NM_000123.4(ERCC5):c.246A>C (p.Leu82=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 881015	NM_000123.4(ERCC5):c.89-10A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 881014	NM_000123.4(ERCC5):c.76A>G (p.Ile26Val)	BIVM-ERCC5, ERCC5 (I26V)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group G +2 more	GLikely benign
Select item 881013	NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala)	ERCC5, BIVM-ERCC5 (E11A)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 802999	NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly)	BIVM-ERCC5, ERCC5 (A1050G +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 802998	NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile)	BIVM-ERCC5, ERCC5 (V1044I +1 more)	Single nucleotide variant (missense variant)	ERCC5-related condition +4 more	GConflicting classifications of pathogenicity
Select item 802997	NM_000123.4(ERCC5):c.840_841dup (p.Val281fs)	BIVM-ERCC5, ERCC5 (V281fs +1 more)	Microsatellite (frameshift variant)	Xeroderma pigmentosum, group G	GPathogenic
Select item 744000	NM_000123.4(ERCC5):c.2280C>T (p.Ile760=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GConflicting classifications of pathogenicity
Select item 740330	NM_000123.4(ERCC5):c.294G>A (p.Ala98=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GConflicting classifications of pathogenicity
Select item 728970	NM_000123.4(ERCC5):c.2457G>A (p.Arg819=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GBenign/Likely benign
Select item 728969	NM_000123.4(ERCC5):c.1974A>G (p.Gln658=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GBenign
Select item 719027	NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 631695	NM_000123.4(ERCC5):c.1129del (p.Ala377fs)	BIVM-ERCC5, ERCC5 (A377fs +1 more)	Deletion (frameshift variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 522359	NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +2 more	GBenign/Likely benign
Select item 522358	NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)	BIVM-ERCC5, ERCC5 +1 more (Q785* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group G	GLikely pathogenic
Select item 522357	NM_000123.4(ERCC5):c.960C>T (p.Asp320=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GBenign/Likely benign
Select item 310946	NM_000123.4(ERCC5):c.*89G>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group G +1 more	GBenign
Select item 310945	NM_000123.4(ERCC5):c.*84G>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 310944	NM_000123.4(ERCC5):c.3532C>T (p.Arg1178Cys)	BIVM-ERCC5, ERCC5 (R1178C +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310943	NM_000123.4(ERCC5):c.3492C>A (p.Thr1164=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310942	NM_000123.4(ERCC5):c.3486C>T (p.Leu1162=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +3 more	GConflicting classifications of pathogenicity
Select item 310941	NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val)	BIVM-ERCC5, ERCC5 (A1143V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310940	NM_000123.4(ERCC5):c.3412G>A (p.Val1138Met)	BIVM-ERCC5, ERCC5 (V1138M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 310939	NM_000123.4(ERCC5):c.3003A>G (p.Gln1001=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GConflicting classifications of pathogenicity
Select item 310938	NM_000123.4(ERCC5):c.2965-14T>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310937	NM_000123.4(ERCC5):c.2844T>C (p.Phe948=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310936	NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	BIVM-ERCC5, ERCC5 (V940M +1 more)	Single nucleotide variant (missense variant)	BIVM-ERCC5-related condition +6 more	GConflicting classifications of pathogenicity
Select item 310935	NM_000123.4(ERCC5):c.2778C>G (p.Gly926=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +4 more	GBenign/Likely benign
Select item 310934	NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu)	BIVM-ERCC5, ERCC5 (P867L +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +1 more	GUncertain significance
Select item 310933	NM_000123.4(ERCC5):c.2534-10T>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 310932	NM_000123.4(ERCC5):c.2320-15C>T	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310931	NM_000123.4(ERCC5):c.2295C>T (p.Thr765=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GConflicting classifications of pathogenicity
Select item 310930	NM_000123.4(ERCC5):c.2268G>C (p.Gln756His)	LOC126861834, BIVM-ERCC5 +1 more (Q756H +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310929	NM_000123.4(ERCC5):c.2208G>C (p.Leu736Phe)	LOC126861834, BIVM-ERCC5 +1 more (L736F +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310928	NM_000123.4(ERCC5):c.2190T>C (p.Asp730=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310927	NM_000123.4(ERCC5):c.2100C>A (p.Leu700=)	BIVM-ERCC5, ERCC5 +1 more	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +2 more	GBenign
Select item 310926	NM_000123.4(ERCC5):c.1926A>G (p.Glu642=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +3 more	GBenign/Likely benign
Select item 310925	NM_000123.4(ERCC5):c.1917A>G (p.Glu639=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310924	NM_000123.4(ERCC5):c.1641C>T (p.Asn547=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 310923	NM_000123.4(ERCC5):c.1563A>G (p.Glu521=)	ERCC5, BIVM-ERCC5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 310922	NM_000123.4(ERCC5):c.1460C>T (p.Pro487Leu)	BIVM-ERCC5, ERCC5 (P487L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 310921	NM_000123.4(ERCC5):c.1287T>C (p.Asp429=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +3 more	GConflicting classifications of pathogenicity
Select item 310920	NM_000123.4(ERCC5):c.1232C>T (p.Thr411Met)	BIVM-ERCC5, ERCC5 (T411M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 310919	NM_000123.4(ERCC5):c.1131T>A (p.Ala377=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 310918	NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)	ERCC5, BIVM-ERCC5	Single nucleotide variant (synonymous variant)	BIVM-ERCC5-related condition +3 more	GConflicting classifications of pathogenicity
Select item 310917	NM_000123.4(ERCC5):c.739A>G (p.Ile247Val)	BIVM-ERCC5, ERCC5 (I247V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 310916	NM_000123.4(ERCC5):c.670G>C (p.Glu224Gln)	BIVM-ERCC5, ERCC5 (E224Q +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310915	NM_000123.4(ERCC5):c.669A>C (p.Pro223=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GConflicting classifications of pathogenicity
Select item 310914	NM_000123.4(ERCC5):c.542A>G (p.His181Arg)	BIVM-ERCC5, ERCC5 (H181R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 310913	NM_000123.4(ERCC5):c.442C>T (p.Pro148Ser)	BIVM-ERCC5, ERCC5 (P148S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 310912	NM_000123.4(ERCC5):c.429C>G (p.Leu143=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group G +1 more	GBenign
Select item 310911	NM_000123.4(ERCC5):c.127C>T (p.Arg43Trp)	BIVM-ERCC5, ERCC5 (R43W +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 310910	NM_000123.4(ERCC5):c.-72C>T	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 310909	NM_000123.4(ERCC5):c.-74G>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G +1 more	GBenign
Select item 310908	NM_000123.4(ERCC5):c.-126A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310907	NM_000123.4(ERCC5):c.-156C>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310906	NM_000123.4(ERCC5):c.-200G>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (5 prime UTR variant +1 more)	Xeroderma pigmentosum, group G +1 more	GBenign/Likely benign
Select item 310905	NM_000123.3(ERCC5):c.-241G>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group G	GUncertain significance
Select item 310904	NM_000123.3(ERCC5):c.-242T>C	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 310903	NM_000123.3(ERCC5):c.-419A>G	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255162	NM_000123.4(ERCC5):c.945C>T (p.His315=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 255161	NM_000123.4(ERCC5):c.2879+14C>T	ERCC5, BIVM-ERCC5	Single nucleotide variant (intron variant)	Cerebrooculofacioskeletal syndrome 3 +3 more	GBenign
Select item 255160	NM_000123.4(ERCC5):c.264+7G>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 255159	NM_000123.4(ERCC5):c.1440C>T (p.His480=)	BIVM-ERCC5, ERCC5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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