ClinVar for MedGen (Select 347628) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585185	NM_173483.4(CYP4F22):c.1001T>C (p.Phe334Ser)	CYP4F22 (F334S)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 2579659	NM_173483.4(CYP4F22):c.549+3G>A	CYP4F22	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 1694465	NM_173483.4(CYP4F22):c.1559T>C (p.Leu520Pro)	CYP4F22 (L520P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GLikely pathogenic
Select item 1526150	NM_173483.4(CYP4F22):c.296G>A (p.Trp99Ter)	CYP4F22 (W99*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 1255446	NM_173483.4(CYP4F22):c.939+25C>G	CYP4F22	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1255445	NM_173483.4(CYP4F22):c.368-24C>T	CYP4F22	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GBenign
Select item 1237473	NM_173483.4(CYP4F22):c.939+21_939+22del	CYP4F22	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1030320	NM_173483.4(CYP4F22):c.470G>A (p.Arg157His)	CYP4F22 (R157H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 982566	NM_173483.4(CYP4F22):c.1177_1179del (p.Lys393del)	CYP4F22 (K393del)	Deletion (inframe_deletion)	Autosomal recessive congenital ichthyosis 5	GLikely pathogenic
Select item 892278	NM_173483.4(CYP4F22):c.*432A>C	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 892277	NM_173483.4(CYP4F22):c.*429C>G	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 892276	NM_173483.4(CYP4F22):c.*427C>G	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 892275	NM_173483.4(CYP4F22):c.*422A>C	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 892274	NM_173483.4(CYP4F22):c.*314G>A	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 892217	NM_173483.4(CYP4F22):c.784C>T (p.Arg262Trp)	CYP4F22 (R262W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 892216	NM_173483.4(CYP4F22):c.753C>T (p.Leu251=)	CYP4F22	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 892215	NM_173483.4(CYP4F22):c.748T>C (p.Tyr250His)	CYP4F22 (Y250H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 891057	NM_173483.4(CYP4F22):c.*187C>T	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 891056	NM_173483.4(CYP4F22):c.*150T>C	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 890992	NM_173483.4(CYP4F22):c.595A>G (p.Met199Val)	CYP4F22 (M199V)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 890991	NM_173483.4(CYP4F22):c.485C>G (p.Ala162Gly)	CYP4F22 (A162G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 890990	NM_173483.4(CYP4F22):c.460C>T (p.Arg154Trp)	CYP4F22 (R154W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 890498	NM_173483.4(CYP4F22):c.*45C>T	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 890497	NM_173483.4(CYP4F22):c.*15C>T	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 890496	NM_173483.4(CYP4F22):c.1418+8C>T	CYP4F22	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 890420	NM_173483.4(CYP4F22):c.350C>T (p.Pro117Leu)	CYP4F22 (P117L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 890419	NM_173483.4(CYP4F22):c.89T>C (p.Phe30Ser)	CYP4F22 (F30S)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 888876	NM_173483.4(CYP4F22):c.*612C>A	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 888789	NM_173483.4(CYP4F22):c.785G>A (p.Arg262Gln)	CYP4F22 (R262Q)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GLikely benign
Select item 786352	NM_173483.4(CYP4F22):c.587C>G (p.Ser196Cys)	CYP4F22 (S196C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 723412	NM_173483.4(CYP4F22):c.776C>G (p.Ala259Gly)	CYP4F22 (A259G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 719452	NM_173483.4(CYP4F22):c.177C>T (p.Phe59=)	CYP4F22	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GBenign/Likely benign
Select item 633809	NM_173483.4(CYP4F22):c.550-11_550-4delinsGGTGACATCTGG	CYP4F22	Indel (intron variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 633808	NM_173483.4(CYP4F22):c.1493T>G (p.Leu498Arg)	CYP4F22 (L498R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 633807	NM_173483.4(CYP4F22):c.1219C>T (p.Arg407Cys)	CYP4F22 (R407C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GLikely pathogenic
Select item 633806	NM_173483.4(CYP4F22):c.236A>G (p.Glu79Gly)	CYP4F22 (E79G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GLikely pathogenic
Select item 632307	NM_173483.4(CYP4F22):c.-1-1G>A	CYP4F22	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GUncertain significance
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 560337	NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln)	CYP4F22 (R362Q)	Single nucleotide variant (missense variant)	Lamellar ichthyosis	GLikely pathogenic
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 560335	NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr)	CYP4F22 (A238T)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 560334	NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp)	CYP4F22 (R282W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 560333	NM_173483.4(CYP4F22):c.429dup (p.Leu144fs)	CYP4F22 (L144fs)	Duplication (frameshift variant)	Lamellar ichthyosis	GLikely pathogenic
Select item 560332	NM_173483.4(CYP4F22):c.1563G>A (p.Trp521Ter)	CYP4F22 (W521*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 560331	NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys)	CYP4F22 (R156C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 560330	NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys)	CYP4F22 (R243C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 560326	NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)	CYP4F22 (F59L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 560318	NM_173483.4(CYP4F22):c.940-1G>A	CYP4F22	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 560316	NM_173483.4(CYP4F22):c.720_723del (p.Val241fs)	CYP4F22 (V241fs)	Microsatellite (frameshift variant)	not provided	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 560313	NM_173483.4(CYP4F22):c.1351C>T (p.Arg451Cys)	CYP4F22 (R451C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 510003	NM_173483.4(CYP4F22):c.20G>A (p.Arg7His)	CYP4F22 (R7H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5 +2 more	GConflicting classifications of pathogenicity
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 432683	NM_173483.4(CYP4F22):c.314C>T (p.Pro105Leu)	CYP4F22 (P105L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 425166	NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu)	CYP4F22 (P355L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 420584	NM_173483.4(CYP4F22):c.976C>T (p.Arg326Ter)	CYP4F22 (R326*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 379536	NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter)	CYP4F22 (R362*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 328460	NM_173483.4(CYP4F22):c.*812T>G	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 328459	NM_173483.4(CYP4F22):c.*650C>T	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 328458	NM_173483.4(CYP4F22):c.*450C>A	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GBenign
Select item 328457	NM_173483.4(CYP4F22):c.*430C>G	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 328456	NM_173483.4(CYP4F22):c.*426C>T	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 328454	NM_173483.4(CYP4F22):c.*262C>A	CYP4F22	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328453	NM_173483.4(CYP4F22):c.*191G>T	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GLikely benign
Select item 328452	NM_173483.4(CYP4F22):c.*183T>G	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GBenign
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 328450	NM_173483.4(CYP4F22):c.*90C>A	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GBenign
Select item 328449	NM_173483.4(CYP4F22):c.*26G>A	CYP4F22	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GLikely benign
Select item 328448	NM_173483.4(CYP4F22):c.1551G>T (p.Glu517Asp)	CYP4F22 (E517D)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 328447	NM_173483.4(CYP4F22):c.1513A>C (p.Lys505Gln)	CYP4F22 (K505Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 328446	NM_173483.4(CYP4F22):c.1270+5C>T	CYP4F22	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 328445	NM_173483.4(CYP4F22):c.1137-15C>G	CYP4F22	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 328444	NM_173483.4(CYP4F22):c.1006+13G>A	CYP4F22	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328443	NM_173483.4(CYP4F22):c.989A>T (p.Asp330Val)	CYP4F22 (D330V)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 328441	NM_173483.4(CYP4F22):c.939+15_939+16del	CYP4F22	Deletion (intron variant)	Autosomal recessive congenital ichthyosis 5 +2 more	GBenign
Select item 328440	NM_173483.4(CYP4F22):c.874G>A (p.Glu292Lys)	CYP4F22 (E292K)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GUncertain significance
Select item 328439	NM_173483.4(CYP4F22):c.873C>T (p.Ala291=)	CYP4F22	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 328438	NM_173483.4(CYP4F22):c.862C>A (p.Gln288Lys)	CYP4F22 (Q288K)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 328437	NM_173483.4(CYP4F22):c.850C>T (p.Arg284Trp)	CYP4F22 (R284W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 328436	NM_173483.4(CYP4F22):c.736C>T (p.Arg246Cys)	CYP4F22 (R246C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 328435	NM_173483.4(CYP4F22):c.693C>T (p.Ser231=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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