ClinVar for MedGen (Select 767281) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064914	NM_015065.3(EXPH5):c.2525G>A (p.Arg842Lys)	EXPH5 (R654K +4 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GUncertain significance
Select item 1805039	NM_015065.3(EXPH5):c.5422C>T (p.Arg1808Ter)	EXPH5 (R1620* +4 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 1698844	NM_015065.3(EXPH5):c.4917C>A (p.Cys1639Ter)	EXPH5 (C1451* +4 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GPathogenic
Select item 1322843	NM_015065.3(EXPH5):c.939del (p.Asn314fs)	EXPH5 (N126fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1304973	NM_015065.3(EXPH5):c.3917C>G (p.Ser1306Ter)	EXPH5 (S1306* +4 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GPathogenic
Select item 1304972	NM_015065.3(EXPH5):c.2542del (p.His848fs)	EXPH5 (H660fs +4 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GPathogenic
Select item 1304971	NM_015065.3(EXPH5):c.3650T>A (p.Leu1217Ter)	EXPH5 (L1217* +4 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GPathogenic
Select item 1304970	NM_015065.3(EXPH5):c.2249C>A (p.Ser750Ter)	EXPH5 (S750* +4 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GPathogenic
Select item 1304969	NM_015065.3(EXPH5):c.1947dup (p.Thr650fs)	EXPH5 (T462fs +4 more)	Duplication (frameshift variant)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GPathogenic
Select item 1304968	NM_015065.3(EXPH5):c.2897del (p.Pro966fs)	EXPH5 (P778fs +4 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GPathogenic
Select item 1304967	NM_015065.3(EXPH5):c.1395del (p.Phe466fs)	EXPH5 (F278fs +4 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GPathogenic
Select item 1285243	NM_015065.3(EXPH5):c.5922A>G (p.Thr1974=)	EXPH5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive +1 more	GBenign
Select item 1274464	NM_015065.3(EXPH5):c.55A>G (p.Arg19Gly)	EXPH5 (R12G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1253296	NM_015065.3(EXPH5):c.2027G>A (p.Ser676Asn)	EXPH5 (S488N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1227267	NM_015065.3(EXPH5):c.4987G>A (p.Gly1663Arg)	EXPH5 (G1475R +4 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive +1 more	GBenign
Select item 1029346	NM_015065.3(EXPH5):c.2890C>T (p.His964Tyr)	EXPH5 (H888Y +4 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	GUncertain significance
Select item 265125	NM_015065.3(EXPH5):c.5786del (p.Pro1929fs)	EXPH5 (P1922fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic