"Baylor Genetics"[submitter] AND "ERCC5"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134159	NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu)	BIVM-ERCC5, ERCC5 (P19L)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group G +4 more	GConflicting classifications of pathogenicity
Select item 310913	NM_000123.4(ERCC5):c.442C>T (p.Pro148Ser)	BIVM-ERCC5, ERCC5 (P148S +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +3 more	GConflicting classifications of pathogenicity
Select item 997504	NM_000123.4(ERCC5):c.511C>A (p.Gln171Lys)	BIVM-ERCC5, ERCC5 (Q171K +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3	GUncertain significance
Select item 998179	NM_000123.4(ERCC5):c.529-3C>T	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	Cerebrooculofacioskeletal syndrome 3 +1 more	GUncertain significance
Select item 998180	NM_000123.4(ERCC5):c.844G>A (p.Val282Ile)	BIVM-ERCC5, ERCC5 (V282I +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3	GUncertain significance
Select item 1327099	NM_000123.4(ERCC5):c.1195G>A (p.Glu399Lys)	BIVM-ERCC5, ERCC5 (E399K +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +2 more	GUncertain significance
Select item 1327080	NM_000123.4(ERCC5):c.1339G>A (p.Ala447Thr)	BIVM-ERCC5, ERCC5 (A447T +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3	GUncertain significance
Select item 310922	NM_000123.4(ERCC5):c.1460C>T (p.Pro487Leu)	ERCC5, BIVM-ERCC5 (P487L +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +2 more	GUncertain significance
Select item 802998	NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile)	BIVM-ERCC5, ERCC5 (V1044I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 134195	NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)	BIVM-ERCC5, ERCC5 (V597L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1028077	NM_000123.4(ERCC5):c.1855C>T (p.Gln619Ter)	BIVM-ERCC5, ERCC5 (Q1073* +1 more)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 3	GPathogenic
Select item 1327108	NM_000123.4(ERCC5):c.2437A>G (p.Ile813Val)	BIVM-ERCC5, ERCC5 +1 more (I1267V +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +1 more	GUncertain significance
Select item 1028078	NM_000123.4(ERCC5):c.2487_2489del (p.Asn829del)	BIVM-ERCC5, ERCC5 +1 more (N1283del +1 more)	Deletion (inframe_deletion)	Cerebrooculofacioskeletal syndrome 3	GUncertain significance
Select item 134167	NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg)	ERCC5, BIVM-ERCC5 (Q1013R +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 883508	NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg)	BIVM-ERCC5, ERCC5 (S1146R +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +1 more	GUncertain significance
Select item 997612	NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr)	BIVM-ERCC5, ERCC5 (K1185T +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +3 more	GUncertain significance
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic