ENOSF1[gene] and "single gene"[properties] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3088919	NM_017512.7(ENOSF1):c.1313T>G (p.Leu438Arg)	ENOSF1 (L356R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385099	NM_017512.7(ENOSF1):c.1213T>C (p.Ser405Pro)	ENOSF1 (S391P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515557	NM_017512.7(ENOSF1):c.1208G>A (p.Arg403Gln)	ENOSF1 (R222Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2374707	NM_017512.7(ENOSF1):c.1207C>T (p.Arg403Trp)	ENOSF1 (R389W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523252	NM_017512.7(ENOSF1):c.1205A>C (p.Gln402Pro)	ENOSF1 (Q221P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207727	NM_017512.7(ENOSF1):c.1195G>C (p.Val399Leu)	ENOSF1 (V399L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381966	NM_017512.7(ENOSF1):c.1112T>C (p.Phe371Ser)	ENOSF1 (F371S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088918	NM_017512.7(ENOSF1):c.1085G>C (p.Cys362Ser)	ENOSF1 (C280S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467263	NM_017512.7(ENOSF1):c.1075G>A (p.Val359Ile)	ENOSF1 (V345I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648514	NM_017512.7(ENOSF1):c.1049-8C>T	ENOSF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2203974	NM_017512.7(ENOSF1):c.1018T>C (p.Ser340Pro)	ENOSF1 (S258P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275450	NM_017512.7(ENOSF1):c.1010A>G (p.Glu337Gly)	ENOSF1 (E385G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088917	NM_017512.7(ENOSF1):c.980T>C (p.Ile327Thr)	ENOSF1 (I146T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088927	NM_017512.7(ENOSF1):c.949C>A (p.Leu317Ile)	ENOSF1 (L136I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272956	NM_017512.7(ENOSF1):c.784G>A (p.Glu262Lys)	ENOSF1 (E247K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337123	NM_017512.7(ENOSF1):c.779C>T (p.Ala260Val)	ENOSF1 (A178V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275449	NM_017512.7(ENOSF1):c.755A>G (p.Asn252Ser)	ENOSF1 (N170S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088926	NM_017512.7(ENOSF1):c.745A>T (p.Met249Leu)	ENOSF1 (M167L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601781	NM_017512.7(ENOSF1):c.742A>G (p.Met248Val)	ENOSF1 (M233V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088925	NM_017512.7(ENOSF1):c.728C>T (p.Pro243Leu)	ENOSF1 (P161L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088924	NM_017512.7(ENOSF1):c.641A>G (p.Asp214Gly)	ENOSF1 (D199G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470912	NM_017512.7(ENOSF1):c.635T>C (p.Leu212Pro)	ENOSF1 (L130P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258909	NM_017512.7(ENOSF1):c.580T>A (p.Cys194Ser)	ENOSF1 (C13S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333563	NM_017512.7(ENOSF1):c.578C>T (p.Ser193Leu)	ENOSF1 (S241L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386554	NM_017512.7(ENOSF1):c.562C>A (p.Pro188Thr)	ENOSF1 (P236T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511533	NM_017512.7(ENOSF1):c.554A>G (p.Gln185Arg)	ENOSF1 (Q103R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088923	NM_017512.7(ENOSF1):c.545T>C (p.Met182Thr)	ENOSF1 (M182T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2324460	NM_017512.7(ENOSF1):c.520G>C (p.Gly174Arg)	ENOSF1 (G159R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088922	NM_017512.7(ENOSF1):c.487G>A (p.Asp163Asn)	ENOSF1 (D163N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088921	NM_017512.7(ENOSF1):c.469G>C (p.Asp157His)	ENOSF1 (D205H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088920	NM_017512.7(ENOSF1):c.459G>C (p.Arg153Ser)	ENOSF1 (R71S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275451	NM_017512.7(ENOSF1):c.328G>A (p.Val110Met)	ENOSF1 (V110M +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2491027	NM_017512.7(ENOSF1):c.302T>G (p.Leu101Arg)	ENOSF1 (L101R +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2374621	NM_017512.7(ENOSF1):c.254T>G (p.Val85Gly)	ENOSF1 (V85G +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3275452	NM_017512.7(ENOSF1):c.136G>A (p.Glu46Lys)	ENOSF1 (E46K +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3275453	NM_017512.7(ENOSF1):c.134C>T (p.Ala45Val)	ENOSF1 (A93V +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2295511	NM_017512.7(ENOSF1):c.118G>A (p.Val40Ile)	ENOSF1 (V40I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2300101	NM_017512.7(ENOSF1):c.104C>T (p.Ser35Leu)	ENOSF1 (S35L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2276254	NM_017512.7(ENOSF1):c.89C>T (p.Thr30Met)	ENOSF1 (T30M +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3275454	NM_017512.7(ENOSF1):c.84+54G>C	ENOSF1 (M46I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 40