Related gene-specific medical variations for Gene (Select 126410) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560339	NM_173483.3(CYP4F22):c.1138del	CYP4F22	Deletion	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560338	NM_173483.4(CYP4F22):c.549+5G>C	CYP4F22	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560336	NM_173483.4(CYP4F22):c.367+1G>A	CYP4F22	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560328	NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp)	CYP4F22 (R372W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GLikely pathogenic
Select item 560327	NM_173483.4(CYP4F22):c.981del (p.Glu328fs)	CYP4F22 (E328fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560325	NM_173483.4(CYP4F22):c.1084C>G (p.Arg362Gly)	CYP4F22 (R362G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560324	NM_173483.4(CYP4F22):c.1137-18_1137-4del	CYP4F22	Deletion (intron variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560323	NM_173483.4(CYP4F22):c.912C>A (p.Asp304Glu)	CYP4F22 (D304E)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560322	NM_173483.4(CYP4F22):c.1163C>A (p.Thr388Lys)	CYP4F22 (T388K)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560321	NM_173483.4(CYP4F22):c.697A>C (p.Ile233Leu)	CYP4F22 (I233L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560320	NM_173483.4(CYP4F22):c.467G>A (p.Arg156His)	CYP4F22 (R156H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560319	NM_173483.4(CYP4F22):c.421+1G>A	CYP4F22	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560317	NM_173483.4(CYP4F22):c.1352G>C (p.Arg451Pro)	CYP4F22 (R451P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560315	NM_173483.4(CYP4F22):c.1532A>G (p.Glu511Gly)	CYP4F22 (E511G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560314	NM_173483.4(CYP4F22):c.1488C>G (p.Phe496Leu)	CYP4F22 (F496L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560312	NM_173483.4(CYP4F22):c.917T>C (p.Ile306Thr)	CYP4F22 (I306T)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560311	NM_173483.4(CYP4F22):c.847C>T (p.Arg283Trp)	CYP4F22 (R283W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560310	NM_173483.4(CYP4F22):c.643_644del (p.Val215fs)	CYP4F22 (V215fs)	Microsatellite (frameshift variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560309	NM_173483.4(CYP4F22):c.592G>T (p.Asp198Tyr)	CYP4F22 (D198Y)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560308	NM_173483.4(CYP4F22):c.550-2A>T	CYP4F22	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560307	NM_173483.4(CYP4F22):c.493_499delinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe)	CYP4F22	Indel (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560306	NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp)	CYP4F22 (G81D)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 444456	NM_173483.4(CYP4F22):c.1424G>A (p.Cys475Tyr)	CYP4F22 (C475Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328451	NM_173483.4(CYP4F22):c.*95C>G	CYP4F22, LOC130063829	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 912	NG_007987.1:g.(26429_33751)_(48033_?)del	CYP4F22	Deletion	Autosomal recessive congenital ichthyosis 5	GPathogenic

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Items: 26