DDB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +258 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 151005	GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1	ACP2, DDB2 +21 more	Copy number loss	See cases	GPathogenic
Select item 1240976	NC_000011.10:g.47214604GA[7]	DDB2, LOC126861205	Microsatellite	not provided	GBenign
Select item 1287348	NC_000011.10:g.47214743A>G	DDB2, LOC126861205	Single nucleotide variant	not provided	GBenign
Select item 1250132	NC_000011.10:g.47214747A>G	DDB2, LOC126861205	Single nucleotide variant	not provided	GBenign
Select item 1281860	NC_000011.10:g.47214854C>G	DDB2, LOC126861205	Single nucleotide variant	not provided	GBenign
Select item 1196952	NC_000011.10:g.47214868C>T	DDB2, LOC126861205	Single nucleotide variant	not provided	GLikely benign
Select item 1191329	NC_000011.10:g.47214879G>T	DDB2, LOC126861205	Single nucleotide variant	not provided	GLikely benign
Select item 877194	NM_000107.3(DDB2):c.-143A>G	DDB2, LOC126861205	Single nucleotide variant (5 prime UTR variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 304912	NM_000107.3(DDB2):c.-123T>G	DDB2, LOC126861205	Single nucleotide variant (5 prime UTR variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 878226	NM_000107.3(DDB2):c.-120G>C	DDB2, LOC126861205	Single nucleotide variant (5 prime UTR variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 304913	NM_000107.3(DDB2):c.-120G>A	DDB2, LOC126861205	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 304914	NM_000107.3(DDB2):c.-56A>G	DDB2, LOC126861205	Single nucleotide variant (5 prime UTR variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 878227	NM_000107.3(DDB2):c.-36G>A	DDB2, LOC126861205	Single nucleotide variant (5 prime UTR variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 304915	NM_000107.3(DDB2):c.-31G>C	DDB2, LOC126861205	Single nucleotide variant (5 prime UTR variant)	Xeroderma pigmentosum	GUncertain significance
Select item 734828	NM_000107.3(DDB2):c.51A>G (p.Leu17=)	DDB2, LOC126861205	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327105	NM_000107.3(DDB2):c.52C>T (p.Arg18Cys)	DDB2, LOC126861205 (R18C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 749111	NM_000107.3(DDB2):c.57C>A (p.Pro19=)	DDB2, LOC126861205	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 878228	NM_000107.3(DDB2):c.59G>A (p.Arg20Lys)	DDB2, LOC126861205 (R20K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2431840	NM_000107.3(DDB2):c.85dup (p.Glu29fs)	DDB2, LOC126861205 (E29fs)	Duplication (frameshift variant +1 more)	Xeroderma pigmentosum, group E	GLikely pathogenic
Select item 2445239	NM_000107.3(DDB2):c.100G>T (p.Ala34Ser)	DDB2, LOC126861205 (A34S)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 2234502	NM_000107.3(DDB2):c.103A>G (p.Lys35Glu)	DDB2, LOC126861205 (K35E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 695307	NM_000107.3(DDB2):c.127+5T>G	DDB2, LOC126861205	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group E +2 more	GConflicting classifications of pathogenicity
Select item 1276638	NM_000107.3(DDB2):c.128-207T>C	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135511	NM_000107.3(DDB2):c.128-84T>G	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 135512	NM_000107.3(DDB2):c.128-66C>T	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929941	NM_000107.3(DDB2):c.128-8C>T	DDB2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1692145	NM_000107.3(DDB2):c.196T>G (p.Cys66Gly)	DDB2 (C66G)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 2373615	NM_000107.3(DDB2):c.200G>A (p.Arg67His)	DDB2 (R67H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1050492	NM_000107.3(DDB2):c.218T>A (p.Leu73His)	DDB2 (L73H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319565	NM_000107.3(DDB2):c.254C>A (p.Ser85Tyr)	DDB2 (S85Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 878229	NM_000107.3(DDB2):c.254C>G (p.Ser85Cys)	DDB2 (S85C)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 304916	NM_000107.3(DDB2):c.264+8A>G	DDB2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity
Select item 2369982	NM_000107.3(DDB2):c.281T>G (p.Phe94Cys)	DDB2 (F94C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 794147	NM_000107.3(DDB2):c.310T>C (p.Leu104=)	DDB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 133960	NM_000107.3(DDB2):c.319G>A (p.Ala107Thr)	DDB2 (A107T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2854448	NM_000107.3(DDB2):c.378C>T (p.Thr126=)	DDB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1594193	NM_000107.3(DDB2):c.378= (p.Thr126=)	DDB2	Variation (no sequence alteration)	not provided	GBenign
Select item 879678	NM_000107.3(DDB2):c.414C>G (p.Leu138=)	DDB2	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 2576188	NM_000107.3(DDB2):c.456+2T>C	DDB2	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 741999	NM_000107.3(DDB2):c.456+8G>C	DDB2	Single nucleotide variant (intron variant)	DDB2-related disorder +1 more	GBenign/Likely benign
Select item 1273401	NM_000107.3(DDB2):c.456+65A>G	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296909	NM_000107.3(DDB2):c.457-317dup	DDB2	Duplication (intron variant)	not provided	GBenign
Select item 1245123	NM_000107.3(DDB2):c.457-314G>C	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214566	NM_000107.3(DDB2):c.457-77G>C	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900550	NM_000107.3(DDB2):c.457-20T>G	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 879679	NM_000107.3(DDB2):c.457-7G>A	DDB2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 872377	NM_000107.3(DDB2):c.457-2A>C	DDB2	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 730007	NM_000107.3(DDB2):c.483G>A (p.Gly161=)	DDB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 771441	NM_000107.3(DDB2):c.511C>G (p.Gln171Glu)	DDB2 (Q171E)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group E +1 more	GConflicting classifications of pathogenicity
Select item 879680	NM_000107.3(DDB2):c.533A>C (p.Glu178Ala)	DDB2 (E178A)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 1692146	NM_000107.3(DDB2):c.540A>G (p.Thr180=)	DDB2	Single nucleotide variant (synonymous variant +2 more)	Xeroderma pigmentosum	GLikely benign
Select item 1319564	NM_000107.3(DDB2):c.574C>T (p.Arg192Ter)	DDB2 (R192*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3080711	NM_000107.3(DDB2):c.575G>A (p.Arg192Gln)	DDB2 (R192Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 304917	NM_000107.3(DDB2):c.577G>A (p.Val193Ile)	DDB2 (V193I)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group E	GLikely benign
Select item 2481416	NM_000107.3(DDB2):c.596C>A (p.Thr199Asn)	DDB2 (T199N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1989350	NM_000107.3(DDB2):c.602+20G>A	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281385	NM_000107.3(DDB2):c.602+92G>A	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233142	NM_000107.3(DDB2):c.602+189C>T	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234248	NM_000107.3(DDB2):c.603-221A>G	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1338944	NM_000107.3(DDB2):c.603-150C>T	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197220	NM_000107.3(DDB2):c.603-135C>T	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1692148	NM_000107.3(DDB2):c.603-4C>G	DDB2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum	GUncertain significance
Select item 709070	NM_000107.3(DDB2):c.606C>A (p.Ile202=)	DDB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1692149	NM_000107.3(DDB2):c.619C>T (p.Leu207=)	DDB2	Single nucleotide variant (synonymous variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 2062799	NM_000107.3(DDB2):c.640C>T (p.Arg214Ter)	DDB2 (R214* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 712077	NM_000107.3(DDB2):c.644T>C (p.Met215Thr)	DDB2 (M215T)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GLikely benign
Select item 1319563	NM_000107.3(DDB2):c.652A>G (p.Thr218Ala)	DDB2 (T218A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1692150	NM_000107.3(DDB2):c.674T>C (p.Val225Ala)	DDB2 (V161A +1 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1703966	NM_000107.3(DDB2):c.689T>C (p.Met230Thr)	DDB2 (M166T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1319562	NM_000107.3(DDB2):c.694G>A (p.Gly232Ser)	DDB2 (G232S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067698	NM_000107.3(DDB2):c.702+1G>T	DDB2	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 2445787	NM_000107.3(DDB2):c.702+4C>T	DDB2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1692151	NM_000107.3(DDB2):c.702+5G>A	DDB2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum	GUncertain significance
Select item 304918	NM_000107.3(DDB2):c.702+12G>A	DDB2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2118072	NM_000107.3(DDB2):c.703-16G>C	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2584821	NM_000107.3(DDB2):c.727_732del (p.Lys243_Lys244del)	DDB2	Deletion (inframe_deletion +2 more)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 635330	NM_000107.3(DDB2):c.730_733del (p.Lys243_Lys244insTer)	DDB2	Microsatellite (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 8787	NM_000107.3(DDB2):c.730A>G (p.Lys244Glu)	DDB2 (K244E)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group E	GPathogenic
Select item 304919	NM_000107.3(DDB2):c.738G>A (p.Thr246=)	DDB2	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group E +1 more	GBenign/Likely benign
Select item 1050710	NM_000107.3(DDB2):c.794A>G (p.Gln265Arg)	DDB2 (Q265R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 8788	NM_000107.3(DDB2):c.818G>A (p.Arg273His)	DDB2 (R273H)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 2286365	NM_000107.3(DDB2):c.823G>A (p.Val275Ile)	DDB2 (V211I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 879681	NM_000107.3(DDB2):c.852G>A (p.Ser284=)	DDB2	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 1692152	NM_000107.3(DDB2):c.869C>T (p.Pro290Leu)	DDB2 (P226L +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692153	NM_000107.3(DDB2):c.870T>C (p.Pro290=)	DDB2	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum	GLikely benign
Select item 304920	NM_000107.3(DDB2):c.876C>T (p.Asn292=)	DDB2	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 1217405	NM_000107.3(DDB2):c.881-139A>G	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229289	NM_000107.3(DDB2):c.881-113C>T	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 749088	NM_000107.3(DDB2):c.894C>T (p.Pro298=)	DDB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 304921	NM_000107.3(DDB2):c.905G>A (p.Arg302Gln)	DDB2 (R302Q)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 304922	NM_000107.3(DDB2):c.914C>A (p.Thr305Asn)	DDB2 (T305N)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 1692154	NM_000107.3(DDB2):c.915C>G (p.Thr305=)	DDB2	Single nucleotide variant (synonymous variant +2 more)	Xeroderma pigmentosum	GLikely benign
Select item 3025228	NM_000107.3(DDB2):c.918G>A (p.Thr306=)	DDB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 8790	NM_000107.3(DDB2):c.919G>T (p.Asp307Tyr)	DDB2 (D307Y)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group E	GPathogenic
Select item 304923	NM_000107.3(DDB2):c.930C>T (p.Ser310=)	DDB2	Single nucleotide variant (synonymous variant +1 more)	Xeroderma pigmentosum +1 more	GConflicting classifications of pathogenicity
Select item 8789	NM_000107.3(DDB2):c.937C>T (p.Arg313Ter)	DDB2 (R313*)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group E	GPathogenic

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