"EXPH5-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 714777	NM_015065.3(EXPH5):c.5614A>G (p.Thr1872Ala)	EXPH5 (T1684A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1535935	NM_015065.3(EXPH5):c.5213C>T (p.Thr1738Ile)	EXPH5 (T1550I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 710014	NM_015065.3(EXPH5):c.5116G>A (p.Val1706Ile)	EXPH5 (V1518I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 790104	NM_015065.3(EXPH5):c.4878A>G (p.Arg1626=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3047850	NM_015065.3(EXPH5):c.4680G>A (p.Gln1560=)	EXPH5	Single nucleotide variant (synonymous variant)	EXPH5-related condition	GLikely benign
Select item 1248929	NM_015065.3(EXPH5):c.4590A>G (p.Leu1530=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 790654	NM_015065.3(EXPH5):c.3706T>G (p.Ser1236Ala)	EXPH5 (S1048A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3034220	NM_015065.3(EXPH5):c.3453G>A (p.Glu1151=)	EXPH5	Single nucleotide variant (synonymous variant)	EXPH5-related condition	GBenign
Select item 2715257	NM_015065.3(EXPH5):c.3400A>G (p.Thr1134Ala)	EXPH5 (T978A +4 more)	Single nucleotide variant (missense variant)	EXPH5-related condition +1 more	GLikely benign
Select item 1264655	NM_015065.3(EXPH5):c.2674A>T (p.Asn892Tyr)	EXPH5 (N704Y +4 more)	Single nucleotide variant (missense variant)	EXPH5-related condition +1 more	GBenign
Select item 3041416	NM_015065.3(EXPH5):c.2351C>T (p.Pro784Leu)	EXPH5 (P596L +4 more)	Single nucleotide variant (missense variant)	EXPH5-related condition	GLikely benign
Select item 1570375	NM_015065.3(EXPH5):c.2213C>G (p.Ser738Cys)	EXPH5 (S550C +4 more)	Single nucleotide variant (missense variant)	EXPH5-related condition +1 more	GBenign
Select item 3047905	NM_015065.3(EXPH5):c.1803G>A (p.Gln601=)	EXPH5	Single nucleotide variant (synonymous variant)	EXPH5-related condition	GLikely benign
Select item 3040496	NM_015065.3(EXPH5):c.1794A>G (p.Val598=)	EXPH5	Single nucleotide variant (synonymous variant)	EXPH5-related condition	GLikely benign
Select item 2080824	NM_015065.3(EXPH5):c.1612G>A (p.Gly538Arg)	EXPH5 (G538R +4 more)	Single nucleotide variant (missense variant)	EXPH5-related condition +1 more	GLikely benign
Select item 1536902	NM_015065.3(EXPH5):c.1568A>G (p.His523Arg)	EXPH5 (H335R +4 more)	Single nucleotide variant (missense variant)	EXPH5-related condition +1 more	GBenign/Likely benign
Select item 2039125	NM_015065.3(EXPH5):c.726C>G (p.Phe242Leu)	EXPH5 (F235L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3048210	NM_015065.3(EXPH5):c.716G>C (p.Arg239Thr)	EXPH5 (R163T +4 more)	Single nucleotide variant (missense variant)	EXPH5-related condition	GLikely benign
Select item 3048155	NM_015065.3(EXPH5):c.392T>A (p.Phe131Tyr)	EXPH5 (F124Y +2 more)	Single nucleotide variant (missense variant)	EXPH5-related condition	GLikely benign
Select item 774478	NM_015065.3(EXPH5):c.324T>C (p.Asn108=)	EXPH5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2064399	NM_015065.3(EXPH5):c.126T>A (p.Leu42=)	EXPH5	Single nucleotide variant (5 prime UTR variant +1 more)	EXPH5-related condition +1 more	GBenign
Select item 3040394	NM_015065.3(EXPH5):c.-179C>G	EXPH5, LOC130006708	Single nucleotide variant (5 prime UTR variant +1 more)	EXPH5-related condition	GLikely benign

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Items: 22