Related gene-specific medical variations for Gene (Select 1643) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 1250132	NC_000011.10:g.47214747A>G	DDB2, LOC126861205	Single nucleotide variant	not provided	GBenign
Select item 1240976	NC_000011.10:g.47214604GA[7]	DDB2, LOC126861205	Microsatellite	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 878228	NM_000107.3(DDB2):c.59G>A (p.Arg20Lys)	DDB2, LOC126861205 (R20K)	Single nucleotide variant (missense variant)	not provided +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 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 749111	NM_000107.3(DDB2):c.57C>A (p.Pro19=)	DDB2, LOC126861205	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 304915	NM_000107.3(DDB2):c.-31G>C	DDB2, LOC126861205	Single nucleotide variant (5 prime UTR variant)	Xeroderma pigmentosum	GUncertain significance
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 304913	NM_000107.3(DDB2):c.-120G>A	DDB2, LOC126861205	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
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 133960	NM_000107.3(DDB2):c.319G>A (p.Ala107Thr)	DDB2 (A107T)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Links from Gene

Items: 28