ClinVar for Gene (Select 1643) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366825	NC_000011.9:g.(47238024_47238408)_(47254511_47256123)del	DDB2	Deletion	Xeroderma pigmentosum	GPathogenic
Select item 3271184	NM_000107.3(DDB2):c.693C>G (p.Asp231Glu)	DDB2 (D167E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 3080709	NM_000107.3(DDB2):c.1276C>T (p.Arg426Trp)	DDB2 (R237W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3026314	NM_000107.3(DDB2):c.1218G>A (p.Thr406=)	DDB2	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2854448	NM_000107.3(DDB2):c.378C>T (p.Thr126=)	DDB2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 2753536	NM_000107.3(DDB2):c.1187C>G (p.Ser396Trp)	DDB2 (S207W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2641759	NM_000107.3(DDB2):c.1113G>A (p.Thr371=)	DDB2	Single nucleotide variant (synonymous variant +1 more)	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 2576188	NM_000107.3(DDB2):c.456+2T>C	DDB2	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2572600	NM_000107.3(DDB2):c.1234+1del	DDB2	Deletion (splice donor variant)	Xeroderma pigmentosum, group E	GUncertain significance
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 2465177	NM_000107.3(DDB2):c.938G>A (p.Arg313Gln)	DDB2 (R249Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2445787	NM_000107.3(DDB2):c.702+4C>T	DDB2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 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 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
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 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 2303070	NM_000107.3(DDB2):c.1233G>A (p.Met411Ile)	DDB2 (M222I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2278243	NM_000107.3(DDB2):c.1033C>T (p.His345Tyr)	DDB2 (H156Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2137065	NM_000107.3(DDB2):c.1049T>C (p.Leu350Pro)	DDB2 (L286P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2137064	NM_000107.3(DDB2):c.1045_1047del (p.Asn349del)	DDB2 (N349del +2 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2118072	NM_000107.3(DDB2):c.703-16G>C	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1989350	NM_000107.3(DDB2):c.602+20G>A	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1960379	NM_000107.3(DDB2):c.1217C>T (p.Thr406Met)	DDB2 (T217M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1929941	NM_000107.3(DDB2):c.128-8C>T	DDB2	Single nucleotide variant (non-coding transcript variant +1 more)	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 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
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 1692154	NM_000107.3(DDB2):c.915C>G (p.Thr305=)	DDB2	Single nucleotide variant (synonymous variant +2 more)	Xeroderma pigmentosum	GLikely benign
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 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 1692151	NM_000107.3(DDB2):c.702+5G>A	DDB2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum	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 1692149	NM_000107.3(DDB2):c.619C>T (p.Leu207=)	DDB2	Single nucleotide variant (synonymous variant +2 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692148	NM_000107.3(DDB2):c.603-4C>G	DDB2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum	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 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 1692144	NM_000107.3(DDB2):c.1126G>A (p.Asp376Asn)	DDB2 (D187N +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1692143	NM_000107.3(DDB2):c.1120G>A (p.Val374Met)	DDB2 (V185M +2 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum	GUncertain significance
Select item 1594193	NM_000107.3(DDB2):c.378= (p.Thr126=)	DDB2	Variation (no sequence alteration)	not provided	GBenign
Select item 1459820	NC_000011.9:g.(?_46880534)_(47470516_?)del	ACP2, ARFGAP2 +12 more	Deletion	Congenital myasthenic syndrome 11 +1 more	GPathogenic
Select item 1338944	NM_000107.3(DDB2):c.603-150C>T	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1333415	NM_000107.3(DDB2):c.985C>T (p.His329Tyr)	DDB2 (H329Y)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 1333388	NM_000107.3(DDB2):c.1187C>A (p.Ser396Ter)	DDB2 (S207* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum, group E	GPathogenic
Select item 1329457	NM_000107.3(DDB2):c.1235-1G>A	DDB2	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
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 1319566	NM_000107.3(DDB2):c.*13A>G	DDB2	Single nucleotide variant (3 prime UTR 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 1319564	NM_000107.3(DDB2):c.574C>T (p.Arg192Ter)	DDB2 (R192*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 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 1296909	NM_000107.3(DDB2):c.457-317dup	DDB2	Duplication (intron variant)	not provided	GBenign
Select item 1288463	NM_000107.3(DDB2):c.1235-79T>C	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287348	NC_000011.10:g.47214743A>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 1281385	NM_000107.3(DDB2):c.602+92G>A	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276638	NM_000107.3(DDB2):c.128-207T>C	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273401	NM_000107.3(DDB2):c.456+65A>G	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269176	NM_000107.3(DDB2):c.1234+259G>A	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250132	NC_000011.10:g.47214747A>G	DDB2, LOC126861205	Single nucleotide variant	not provided	GBenign
Select item 1249280	NM_000107.3(DDB2):c.1024-124G>C	DDB2	Single nucleotide variant (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 1240976	NC_000011.10:g.47214604GA[7]	DDB2, LOC126861205	Microsatellite	not provided	GBenign
Select item 1237094	NM_000107.3(DDB2):c.1189-21T>C	DDB2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1234331	NM_000107.3(DDB2):c.1235-209G>C	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 1233142	NM_000107.3(DDB2):c.602+189C>T	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229289	NM_000107.3(DDB2):c.881-113C>T	DDB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217405	NM_000107.3(DDB2):c.881-139A>G	DDB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214566	NM_000107.3(DDB2):c.457-77G>C	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 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 1182792	NM_000107.3(DDB2):c.1235-32A>G	DDB2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group E +1 more	GBenign
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 1050492	NM_000107.3(DDB2):c.218T>A (p.Leu73His)	DDB2 (L73H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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 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 879679	NM_000107.3(DDB2):c.457-7G>A	DDB2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group E	GUncertain significance
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 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 878228	NM_000107.3(DDB2):c.59G>A (p.Arg20Lys)	DDB2, LOC126861205 (R20K)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group E +3 more	GConflicting classifications of pathogenicity
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 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 877256	NM_000107.3(DDB2):c.*287T>G	DDB2	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 877255	NM_000107.3(DDB2):c.*142A>G	DDB2	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 877254	NM_000107.3(DDB2):c.*7C>T	DDB2	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group E	GUncertain significance
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 872377	NM_000107.3(DDB2):c.457-2A>C	DDB2	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 794147	NM_000107.3(DDB2):c.310T>C (p.Leu104=)	DDB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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