ClinVar for MedGen (Select 341219) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2572600	NM_000107.3(DDB2):c.1234+1del	DDB2	Deletion (splice donor variant)	Xeroderma pigmentosum, group E	GUncertain significance
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 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 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 1237094	NM_000107.3(DDB2):c.1189-21T>C	DDB2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 777199	NM_000107.3(DDB2):c.1053T>C (p.Ile351=)	DDB2	Single nucleotide variant (synonymous variant)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity
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 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 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 304932	NM_000107.3(DDB2):c.*151C>A	DDB2	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group E +1 more	GBenign/Likely benign
Select item 304931	NM_000107.3(DDB2):c.*126T>C	DDB2	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 304930	NM_000107.3(DDB2):c.*77C>T	DDB2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 304928	NM_000107.3(DDB2):c.1180A>G (p.Ile394Val)	DDB2 (I394V +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 304927	NM_000107.3(DDB2):c.1070C>T (p.Pro357Leu)	DDB2 (P357L +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 304926	NM_000107.3(DDB2):c.1023+9C>T	DDB2	Single nucleotide variant (intron variant)	Xeroderma pigmentosum, group E	GUncertain significance
Select item 304925	NM_000107.3(DDB2):c.984G>A (p.Pro328=)	DDB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 304924	NM_000107.3(DDB2):c.979A>T (p.Ile327Phe)	DDB2 (I327F)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group E	GUncertain significance
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 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 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 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 304919	NM_000107.3(DDB2):c.738G>A (p.Thr246=)	DDB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 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 304916	NM_000107.3(DDB2):c.264+8A>G	DDB2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 133961	NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr)	DDB2 (A410T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 8789	NM_000107.3(DDB2):c.937C>T (p.Arg313Ter)	DDB2 (R313*)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum, group E	GPathogenic
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 8787	NM_000107.3(DDB2):c.730A>G (p.Lys244Glu)	DDB2 (K244E)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group E	GPathogenic

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Items: 48