ClinVar for MedGen (Select 501171) - ClinVar - NCBI

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

Links from MedGen

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362286	NM_006842.3(SF3B2):c.2321C>T (p.Ala774Val)	SF3B2 (A774V)	Single nucleotide variant (missense variant)	Craniofacial microsomia 1	GUncertain significance
Select item 3254890	NM_006842.3(SF3B2):c.664C>T (p.Arg222Ter)	SF3B2 (R222*)	Single nucleotide variant (nonsense)	Craniofacial microsomia 1	GPathogenic
Select item 2431343	NM_001135649.3(FOXI3):c.706C>T (p.Arg236Trp)	FOXI3 (R236W)	Single nucleotide variant (missense variant)	Craniofacial microsomia 1 +1 more	GPathogenic/Likely pathogenic
Select item 2431342	NM_001135649.3(FOXI3):c.707G>A (p.Arg236Gln)	FOXI3 (R236Q)	Single nucleotide variant (missense variant)	Craniofacial microsomia 1	GLikely pathogenic
Select item 2431341	NM_001135649.3(FOXI3):c.713G>A (p.Arg238Gln)	FOXI3 (R238Q)	Single nucleotide variant (missense variant)	Craniofacial microsomia 1	GLikely pathogenic
Select item 2431340	NM_001135649.3(FOXI3):c.718C>T (p.Arg240Cys)	FOXI3 (R240C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431339	NM_001135649.3(FOXI3):c.1243C>T (p.Arg415Ter)	FOXI3 (R415*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2430158	NM_001135649.3(FOXI3):c.703C>T (p.Arg235Cys)	FOXI3 (R235C)	Single nucleotide variant (missense variant)	Craniofacial microsomia 1	GLikely pathogenic
Select item 1986646	NM_001135649.3(FOXI3):c.1105AGCAATAGCACC[1] (p.369SNST[1])	FOXI3	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1704311	GRCh37/hg19 4q35.1-35.2(chr4:186473718-187912600)x3	CYP4V2, F11 +6 more	Copy number gain	Craniofacial microsomia 1	GUncertain significance
Select item 1691311	NM_024646.3(ZYG11B):c.628C>T (p.Arg210Ter)	ZYG11B (R210*)	Single nucleotide variant (nonsense)	Craniofacial microsomia 1	GLikely pathogenic
Select item 1353346	NM_001135649.3(FOXI3):c.719G>A (p.Arg240His)	FOXI3 (R240H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342664	NM_006842.3(SF3B2):c.2480dup (p.Leu828fs)	LOC130006095, SF3B2 (L828fs)	Duplication (frameshift variant)	Craniofacial microsomia 1	GPathogenic
Select item 1342663	NM_006842.3(SF3B2):c.1A>T (p.Met1Leu)	SF3B2 (M1L)	Single nucleotide variant (missense variant +1 more)	Craniofacial microsomia 1	GPathogenic
Select item 1342662	NM_006842.3(SF3B2):c.1912C>T (p.Arg638Ter)	SF3B2 (R638*)	Single nucleotide variant (nonsense)	Craniofacial microsomia 1	GPathogenic
Select item 1342661	NM_006842.3(SF3B2):c.1780-2del	SF3B2	Deletion (splice acceptor variant)	Craniofacial microsomia 1	GPathogenic
Select item 1162776	NM_002031.3(FRK):c.484G>A (p.Val162Ile)	FRK (V162I)	Single nucleotide variant (missense variant)	Craniofacial microsomia 1	GUncertain significance