C4551480[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440318	NM_025074.7(FRAS1):c.382C>T (p.Gln128Ter)	FRAS1 (Q128*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 2348405	NM_025074.7(FRAS1):c.572C>T (p.Thr191Ile)	FRAS1 (T191I)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 349672	NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys)	FRAS1 (E296K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1337801	NM_025074.7(FRAS1):c.1882C>A (p.Pro628Thr)	FRAS1 (P628T)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GUncertain significance
Select item 2441564	NM_025074.7(FRAS1):c.2550C>T (p.Tyr850=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1322936	NM_025074.7(FRAS1):c.2692del (p.His898fs)	FRAS1 (H898fs)	Deletion (frameshift variant)	Fraser syndrome 1	GPathogenic
Select item 1324425	NM_025074.7(FRAS1):c.2811T>A (p.Cys937Ter)	FRAS1 (C937*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 2689090	NM_025074.7(FRAS1):c.2827G>A (p.Ala943Thr)	FRAS1 (A943T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 727672	NM_025074.7(FRAS1):c.2835G>A (p.Gln945=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905780	NM_025074.7(FRAS1):c.3157C>A (p.Pro1053Thr)	FRAS1 (P1053T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 649233	NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu)	FRAS1 (R1064L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 916643	NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter)	FRAS1 (R1244*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic
Select item 2441559	NM_025074.7(FRAS1):c.3936C>T (p.Ser1312=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1	GUncertain significance
Select item 2441570	NM_025074.7(FRAS1):c.3957A>G (p.Gln1319=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 349710	NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala)	FRAS1 (G1394A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2441565	NM_025074.7(FRAS1):c.4912C>T (p.Pro1638Ser)	FRAS1 (P1638S)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2441567	NM_025074.7(FRAS1):c.4955G>A (p.Arg1652Lys)	FRAS1 (R1652K)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 285557	NM_025074.7(FRAS1):c.5205C>A (p.His1735Gln)	FRAS1 (H1735Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2690602	NM_025074.7(FRAS1):c.5218-1G>T	FRAS1	Single nucleotide variant (splice acceptor variant)	Fraser syndrome 1	GLikely pathogenic
Select item 2441569	NM_025074.7(FRAS1):c.5611A>G (p.Ile1871Val)	FRAS1 (I1871V)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 904028	NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys)	FRAS1 (R2096C)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2441560	NM_025074.7(FRAS1):c.6776G>C (p.Ser2259Thr)	FRAS1 (S2259T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1074280	NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter)	FRAS1 (R2269*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2815	NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs)	FRAS1 (V2322fs)	Duplication (frameshift variant)	Fraser syndrome 1 +1 more	GPathogenic
Select item 197915	NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)	FRAS1 (V2347F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2082812	NM_025074.7(FRAS1):c.7280C>A (p.Pro2427Gln)	FRAS1 (P2427Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 653607	NM_025074.7(FRAS1):c.7744A>C (p.Asn2582His)	FRAS1 (N2582H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441563	NM_025074.7(FRAS1):c.8467C>T (p.Arg2823Cys)	FRAS1, LOC126807088 (R2823C)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2441568	NM_025074.7(FRAS1):c.8555A>G (p.Tyr2852Cys)	FRAS1, LOC126807088 (Y2852C)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2441558	NM_025074.7(FRAS1):c.8731A>G (p.Ile2911Val)	FRAS1 (I2911V)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 2441571	NM_025074.7(FRAS1):c.9008A>C (p.Glu3003Ala)	FRAS1 (E3003A)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2375694	NM_025074.7(FRAS1):c.9016T>C (p.Phe3006Leu)	FRAS1 (F3006L)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 2024612	NM_025074.7(FRAS1):c.9575del (p.Pro3192fs)	FRAS1 (P3192fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 706680	NM_025074.7(FRAS1):c.9628G>A (p.Ala3210Thr)	FRAS1 (A3210T)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 2441562	NM_025074.7(FRAS1):c.9716A>G (p.Asn3239Ser)	FRAS1 (N3239S)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2317886	NM_025074.7(FRAS1):c.9845A>G (p.Lys3282Arg)	FRAS1 (K3282R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1343710	NM_025074.7(FRAS1):c.10894C>T (p.Pro3632Ser)	FRAS1 (P3632S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1322940	NM_207361.6(FREM2):c.2833del (p.His945fs)	FREM2 (H945fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1179176	NM_207361.6(FREM2):c.8176+2dup	FREM2	Duplication (splice donor variant)	Fraser syndrome 1 +3 more	GConflicting classifications of pathogenicity

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Items: 39