"FMN1-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194719	NM_001277313.2(FMN1):c.*1G>A	LOC126862090, FMN1	Single nucleotide variant (3 prime UTR variant)	FMN1-related condition +1 more	GLikely benign
Select item 497271	NM_001277313.2(FMN1):c.4051G>A (p.Val1351Met)	FMN1 (V1128M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 502004	NM_001277313.2(FMN1):c.3343GAA[2] (p.Glu1117del)	FMN1 (E1117del +1 more)	Microsatellite (inframe_deletion)	FMN1-related condition +2 more	GLikely benign
Select item 197717	NM_001277313.2(FMN1):c.3001C>T (p.Pro1001Ser)	FMN1 (P778S +1 more)	Single nucleotide variant (missense variant)	FMN1-related condition +2 more	GBenign/Likely benign
Select item 2051286	NM_001277313.2(FMN1):c.2721T>G (p.Pro907=)	FMN1	Single nucleotide variant (synonymous variant)	FMN1-related condition +1 more	GBenign/Likely benign
Select item 3033907	NM_001277313.2(FMN1):c.2610G>A (p.Pro870=)	FMN1	Single nucleotide variant (synonymous variant)	FMN1-related condition	GLikely benign
Select item 3057606	NM_001277313.2(FMN1):c.2469C>T (p.Thr823=)	FMN1	Single nucleotide variant (synonymous variant)	FMN1-related condition	GLikely benign
Select item 502419	NM_001277313.2(FMN1):c.2314G>A (p.Glu772Lys)	FMN1 (E549K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 728885	NM_001277313.2(FMN1):c.2044-5A>C	FMN1	Single nucleotide variant (intron variant)	FMN1-related condition +1 more	GLikely benign
Select item 1650211	NM_001277313.2(FMN1):c.2044-1442A>C	FMN1 (K457Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2757847	NM_001277313.2(FMN1):c.2044-1667G>A	FMN1 (G382S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1600115	NM_001277313.2(FMN1):c.2044-1717C>T	FMN1 (S365L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3053461	NM_001277313.2(FMN1):c.2044-2097A>G	FMN1	Single nucleotide variant (synonymous variant +1 more)	FMN1-related condition	GLikely benign
Select item 2073271	NM_001277313.2(FMN1):c.2044-2618G>A	FMN1 (V65M)	Single nucleotide variant (missense variant +1 more)	FMN1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 284853	NM_001277313.2(FMN1):c.2044-2701C>A	FMN1 (S37Y)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GLikely benign
Select item 3056580	NM_001277313.2(FMN1):c.2044-2817C>T	FMN1	Single nucleotide variant (5 prime UTR variant +1 more)	FMN1-related condition	GBenign
Select item 3025646	NM_001277313.2(FMN1):c.2028G>A (p.Leu676=)	FMN1	Single nucleotide variant (synonymous variant)	FMN1-related condition +1 more	GBenign/Likely benign
Select item 3025602	NM_001277313.2(FMN1):c.1945G>A (p.Ala649Thr)	FMN1 (A649T)	Single nucleotide variant (missense variant)	FMN1-related condition +1 more	GBenign/Likely benign
Select item 2048887	NM_001277313.2(FMN1):c.1307G>T (p.Gly436Val)	FMN1 (G436V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3046480	NM_001277313.2(FMN1):c.948G>A (p.Pro316=)	FMN1	Single nucleotide variant (synonymous variant)	FMN1-related condition	GLikely benign
Select item 2713020	NM_001277313.2(FMN1):c.946C>A (p.Pro316Thr)	FMN1 (P316T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1599782	NM_001277313.2(FMN1):c.877A>T (p.Thr293Ser)	FMN1 (T293S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1170247	NM_001277313.2(FMN1):c.848G>A (p.Arg283Lys)	FMN1 (R283K)	Single nucleotide variant (missense variant)	FMN1-related condition +1 more	GBenign/Likely benign
Select item 2049438	NM_001277313.2(FMN1):c.846G>A (p.Arg282=)	FMN1	Single nucleotide variant (synonymous variant)	FMN1-related condition +1 more	GBenign
Select item 1531811	NM_001277313.2(FMN1):c.728C>T (p.Thr243Met)	FMN1 (T243M)	Single nucleotide variant (missense variant)	FMN1-related condition +1 more	GBenign/Likely benign
Select item 1584391	NM_001277313.2(FMN1):c.687C>G (p.Ser229=)	FMN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2633834	NM_001277313.2(FMN1):c.665C>T (p.Pro222Leu)	FMN1 (P222L)	Single nucleotide variant (missense variant)	FMN1-related condition	GUncertain significance
Select item 2727380	NM_001277313.2(FMN1):c.495G>A (p.Arg165=)	FMN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3040406	NM_001277313.2(FMN1):c.401A>C (p.Gln134Pro)	FMN1 (Q134P)	Single nucleotide variant (missense variant)	FMN1-related condition	GLikely benign
Select item 2713021	NM_001277313.2(FMN1):c.382C>T (p.Pro128Ser)	FMN1 (P128S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1620933	NM_001277313.2(FMN1):c.368C>T (p.Ser123Phe)	FMN1 (S123F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3051620	NM_001277313.2(FMN1):c.197C>T (p.Pro66Leu)	FMN1 (P66L)	Single nucleotide variant (missense variant)	FMN1-related condition	GLikely benign
Select item 2635014	NM_001277313.2(FMN1):c.9C>T (p.Gly3=)	FMN1	Single nucleotide variant (synonymous variant)	FMN1-related condition +1 more	GConflicting classifications of pathogenicity

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Items: 33