ClinVar for Gene (Select 126861205) - ClinVar

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

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	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 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)	not provided +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 151005	GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1	ACP2, DDB2 +21 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26