EPSTI1[gene] and "single gene"[properties] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2277615	NM_033255.5(EPSTI1):c.*202A>G	EPSTI1 (I397M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2470928	NM_033255.5(EPSTI1):c.*194G>A	EPSTI1 (E395K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089984	NM_033255.5(EPSTI1):c.*191C>A	EPSTI1 (P394T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2521772	NM_033255.5(EPSTI1):c.*182G>C	EPSTI1 (E391Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284697	NM_033255.5(EPSTI1):c.*171C>A	EPSTI1 (A387E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089983	NM_033255.5(EPSTI1):c.*161C>T	EPSTI1 (L384F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089982	NM_033255.5(EPSTI1):c.*122C>T	EPSTI1 (L371F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547929	NM_033255.5(EPSTI1):c.*119A>G	EPSTI1 (T370A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356893	NM_033255.5(EPSTI1):c.*102T>C	EPSTI1 (L364S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266678	NM_033255.5(EPSTI1):c.*99C>T	EPSTI1 (T363I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276135	NM_033255.5(EPSTI1):c.*74A>G	EPSTI1 (I355V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487527	NM_033255.5(EPSTI1):c.*50C>T	EPSTI1 (H347Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354536	NM_033255.5(EPSTI1):c.*27C>T	EPSTI1 (S339L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2340628	NM_033255.5(EPSTI1):c.916-714C>G	EPSTI1 (H325Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355815	NM_033255.5(EPSTI1):c.817G>A (p.Val273Ile)	EPSTI1 (V146I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276130	NM_033255.5(EPSTI1):c.788C>T (p.Ala263Val)	EPSTI1 (A274V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411080	NM_033255.5(EPSTI1):c.763C>T (p.Arg255Trp)	EPSTI1 (R128W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521773	NM_033255.5(EPSTI1):c.754G>C (p.Glu252Gln)	EPSTI1 (E252Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317883	NM_033255.5(EPSTI1):c.663A>T (p.Arg221Ser)	EPSTI1 (R94S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536718	NM_033255.5(EPSTI1):c.619T>G (p.Cys207Gly)	EPSTI1 (C207G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089985	NM_033255.5(EPSTI1):c.524A>G (p.Glu175Gly)	EPSTI1 (E175G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515868	NM_033255.5(EPSTI1):c.516A>T (p.Arg172Ser)	EPSTI1 (R172S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276134	NM_033255.5(EPSTI1):c.496A>G (p.Lys166Glu)	EPSTI1 (K166E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307527	NM_033255.5(EPSTI1):c.445G>A (p.Glu149Lys)	EPSTI1 (E149K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552564	NM_033255.5(EPSTI1):c.421T>C (p.Ser141Pro)	EPSTI1 (S14P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219332	NM_033255.5(EPSTI1):c.350C>T (p.Thr117Ile)	EPSTI1 (T117I)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2292876	NM_033255.5(EPSTI1):c.335G>A (p.Gly112Glu)	EPSTI1 (G112E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784269	NM_033255.5(EPSTI1):c.332-15dup	EPSTI1	Duplication (intron variant)	not provided	GBenign
Select item 2290153	NM_033255.5(EPSTI1):c.317T>G (p.Val106Gly)	EPSTI1 (V106G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232450	NM_033255.5(EPSTI1):c.262C>A (p.Leu88Met)	EPSTI1 (L88M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779645	NM_033255.5(EPSTI1):c.244A>G (p.Arg82Gly)	EPSTI1 (R82G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3276131	NM_033255.5(EPSTI1):c.227G>A (p.Arg76Gln)	EPSTI1 (R76Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227643	NM_033255.5(EPSTI1):c.226C>T (p.Arg76Trp)	EPSTI1 (R76W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614756	NM_033255.5(EPSTI1):c.174C>G (p.His58Gln)	EPSTI1 (H58Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276132	NM_033255.5(EPSTI1):c.157C>G (p.Arg53Gly)	EPSTI1 (R53G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544755	NM_033255.5(EPSTI1):c.127G>A (p.Gly43Ser)	EPSTI1 (G43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306293	NM_033255.5(EPSTI1):c.117C>G (p.Asp39Glu)	EPSTI1 (D39E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276133	NM_033255.5(EPSTI1):c.86G>T (p.Gly29Val)	EPSTI1 (G29V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333953	NM_033255.5(EPSTI1):c.85G>A (p.Gly29Arg)	EPSTI1 (G29R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 39