"PreventionGenetics, part of Exact Sciences"[submitter] AND "FYCO1"[ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029278	NM_024513.4(FYCO1):c.4270C>T (p.Arg1424Ter)	FYCO1 (R1224* +4 more)	Single nucleotide variant (nonsense +2 more)	FYCO1-related disorder	GPathogenic
Select item 3046921	NM_024513.4(FYCO1):c.4218G>A (p.Gln1406=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	FYCO1-related disorder	GLikely benign
Select item 261735	NM_024513.4(FYCO1):c.4086G>A (p.Glu1362=)	FYCO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 261734	NM_024513.4(FYCO1):c.3924C>T (p.Leu1308=)	FYCO1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 468446	NM_024513.4(FYCO1):c.3779C>G (p.Pro1260Arg)	FYCO1 (P1260R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 261733	NM_024513.4(FYCO1):c.3705C>A (p.Gly1235=)	FYCO1	Single nucleotide variant (synonymous variant)	FYCO1-related disorder +1 more	GBenign/Likely benign
Select item 2636094	NM_024513.4(FYCO1):c.3670C>T (p.Arg1224Ter)	FYCO1 (R1024* +3 more)	Single nucleotide variant (nonsense +1 more)	FYCO1-related disorder	GPathogenic
Select item 261732	NM_024513.4(FYCO1):c.3587+15C>T	FYCO1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1113749	NM_024513.4(FYCO1):c.3438-9_3438-8del	FYCO1	Deletion (intron variant)	FYCO1-related disorder +1 more	GLikely benign
Select item 1978744	NM_024513.4(FYCO1):c.3425T>C (p.Ile1142Thr)	FYCO1 (I1102T +3 more)	Single nucleotide variant (missense variant +1 more)	Cataract 18 +1 more	GLikely benign
Select item 261731	NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln)	FYCO1 (R1140Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 261730	NM_024513.4(FYCO1):c.3330C>T (p.Cys1110=)	FYCO1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3046836	NM_024513.4(FYCO1):c.3270-2A>C	FYCO1	Single nucleotide variant (splice acceptor variant)	FYCO1-related disorder	GPathogenic
Select item 901333	NM_024513.4(FYCO1):c.3024T>A (p.Ser1008Arg)	FYCO1 (S1008R)	Single nucleotide variant (missense variant)	FYCO1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 261729	NM_024513.4(FYCO1):c.3003C>A (p.Asn1001Lys)	FYCO1 (N1001K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 261727	NM_024513.4(FYCO1):c.3001_3003delinsGAA (p.Asn1001Glu)	FYCO1 (N1001E)	Indel (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 261728	NM_024513.4(FYCO1):c.3001A>G (p.Asn1001Asp)	FYCO1 (N1001D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 261726	NM_024513.4(FYCO1):c.2980G>A (p.Glu994Lys)	FYCO1 (E994K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 345507	NM_024513.4(FYCO1):c.2806G>A (p.Ala936Thr)	FYCO1 (A936T)	Single nucleotide variant (missense variant)	FYCO1-related disorder +2 more	GBenign/Likely benign
Select item 3030952	NM_024513.4(FYCO1):c.2766G>A (p.Val922=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	FYCO1-related disorder	GLikely benign
Select item 3059950	NM_024513.4(FYCO1):c.2761C>A (p.Arg921=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	FYCO1-related disorder	GLikely benign
Select item 261724	NM_024513.4(FYCO1):c.2739C>T (p.Cys913=)	FYCO1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 345508	NM_024513.4(FYCO1):c.2718T>C (p.Ala906=)	FYCO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3031118	NM_024513.4(FYCO1):c.2673C>T (p.His891=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	FYCO1-related disorder	GLikely benign
Select item 901884	NM_024513.4(FYCO1):c.2612G>A (p.Arg871Gln)	FYCO1 (R871Q)	Single nucleotide variant (missense variant)	FYCO1-related disorder +2 more	GBenign/Likely benign
Select item 468440	NM_024513.4(FYCO1):c.2294G>A (p.Arg765His)	FYCO1 (R765H)	Single nucleotide variant (missense variant)	FYCO1-related disorder +2 more	GBenign/Likely benign
Select item 261722	NM_024513.4(FYCO1):c.2036C>T (p.Ala679Val)	FYCO1 (A679V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3054988	NM_024513.4(FYCO1):c.1990G>T (p.Glu664Ter)	FYCO1 (E464* +3 more)	Single nucleotide variant (nonsense +1 more)	FYCO1-related disorder	GLikely pathogenic
Select item 345516	NM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe)	FYCO1 (S662F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2628477	NM_024513.4(FYCO1):c.1950G>C (p.Gln650His)	FYCO1 (Q450H +3 more)	Single nucleotide variant (missense variant +1 more)	FYCO1-related disorder	GUncertain significance
Select item 261721	NM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp)	FYCO1 (R615W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3050432	NM_024513.4(FYCO1):c.1602G>A (p.Glu534=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	FYCO1-related disorder	GLikely benign
Select item 345523	NM_024513.4(FYCO1):c.1474C>T (p.Arg492Trp)	FYCO1 (R492W)	Single nucleotide variant (missense variant)	FYCO1-related disorder +2 more	GBenign/Likely benign
Select item 468439	NM_024513.4(FYCO1):c.1439C>T (p.Thr480Met)	FYCO1 (T480M)	Single nucleotide variant (missense variant)	FYCO1-related disorder +2 more	GBenign/Likely benign
Select item 261720	NM_024513.4(FYCO1):c.1339C>T (p.Arg447Cys)	FYCO1 (R447C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 261719	NM_024513.4(FYCO1):c.1335G>A (p.Leu445=)	FYCO1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261718	NM_024513.4(FYCO1):c.1206G>A (p.Glu402=)	FYCO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 345530	NM_024513.4(FYCO1):c.1098C>T (p.Ala366=)	FYCO1	Single nucleotide variant (synonymous variant)	FYCO1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 261738	NM_024513.4(FYCO1):c.962G>C (p.Gly321Ala)	FYCO1 (G321A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 345532	NM_024513.4(FYCO1):c.869G>A (p.Arg290His)	FYCO1 (R290H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 261737	NM_024513.4(FYCO1):c.819A>G (p.Gln273=)	FYCO1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261736	NM_024513.4(FYCO1):c.749G>A (p.Arg250Gln)	FYCO1 (R250Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 345539	NM_024513.4(FYCO1):c.713A>C (p.Glu238Ala)	FYCO1 (E238A)	Single nucleotide variant (missense variant)	Cataract 18 +1 more	GBenign
Select item 345540	NM_024513.4(FYCO1):c.647C>T (p.Ser216Phe)	FYCO1 (S216F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2067347	NM_024513.4(FYCO1):c.425T>C (p.Leu142Pro)	FYCO1 (L102P +1 more)	Single nucleotide variant (missense variant +2 more)	Cataract 18 +1 more	GUncertain significance
Select item 261725	NM_024513.4(FYCO1):c.289-14T>A	FYCO1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 261723	NM_024513.4(FYCO1):c.267C>A (p.Arg89=)	FYCO1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 425295	NM_024513.4(FYCO1):c.265C>T (p.Arg89Cys)	FYCO1 (R89C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 703470	NM_024513.4(FYCO1):c.186C>T (p.Thr62=)	FYCO1	Single nucleotide variant (synonymous variant)	FYCO1-related disorder +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49