CYP4F22[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	LOC130063834, LOC130063835 +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 328422	NM_173483.4(CYP4F22):c.-123G>A	CYP4F22	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 1237700	NM_173483.4(CYP4F22):c.-1-29A>G	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2616919	NM_173483.4(CYP4F22):c.50C>G (p.Thr17Arg)	CYP4F22 (T17R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 328423	NM_173483.4(CYP4F22):c.51G>A (p.Thr17=)	CYP4F22	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GBenign/Likely benign
Select item 279799	NM_173483.4(CYP4F22):c.59dup (p.Ile21fs)	CYP4F22 (I21fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2118196	NM_173483.4(CYP4F22):c.62_64dup (p.Ile21_Tyr22insLeu)	CYP4F22	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 773351	NM_173483.4(CYP4F22):c.66C>T (p.Tyr22=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146419	NM_173483.4(CYP4F22):c.68C>T (p.Ala23Val)	CYP4F22 (A23V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2513598	NM_173483.4(CYP4F22):c.76A>G (p.Thr26Ala)	CYP4F22 (T26A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 734771	NM_173483.4(CYP4F22):c.96C>A (p.Leu32=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077223	NM_173483.4(CYP4F22):c.110G>T (p.Arg37Leu)	CYP4F22 (R37L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753677	NM_173483.4(CYP4F22):c.132G>A (p.Arg44=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328424	NM_173483.4(CYP4F22):c.160C>T (p.Arg54Cys)	CYP4F22 (R54C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5 +3 more	GConflicting classifications of pathogenicity
Select item 2061051	NM_173483.4(CYP4F22):c.161G>A (p.Arg54His)	CYP4F22 (R54H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3079722	NM_173483.4(CYP4F22):c.163C>T (p.Arg55Trp)	CYP4F22 (R55W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 729586	NM_173483.4(CYP4F22):c.192G>T (p.Arg64=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605432	NM_173483.4(CYP4F22):c.194G>A (p.Arg65His)	CYP4F22 (R65H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 328425	NM_173483.4(CYP4F22):c.222+15G>A	CYP4F22	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1291711	NM_173483.4(CYP4F22):c.222+313T>A	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257165	NM_173483.4(CYP4F22):c.223-232G>T	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 372938	NM_173483.4(CYP4F22):c.223-10C>G	CYP4F22	Single nucleotide variant (intron variant)	not provided	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 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 2005456	NM_173483.4(CYP4F22):c.251A>T (p.Asp84Val)	CYP4F22 (D84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858667	NM_173483.4(CYP4F22):c.285A>C (p.Val95=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 560336	NM_173483.4(CYP4F22):c.367+1G>A	CYP4F22	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 328426	NM_173483.4(CYP4F22):c.367+5G>A	CYP4F22	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GBenign
Select item 1286241	NM_173483.4(CYP4F22):c.367+308G>A	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248587	NM_173483.4(CYP4F22):c.368-289G>A	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295042	NM_173483.4(CYP4F22):c.368-176C>T	CYP4F22	Single nucleotide variant (intron variant)	not provided	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 2957094	NM_173483.4(CYP4F22):c.368-13T>C	CYP4F22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 328427	NM_173483.4(CYP4F22):c.368-9C>G	CYP4F22	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GBenign
Select item 2363863	NM_173483.4(CYP4F22):c.379C>T (p.Pro127Ser)	CYP4F22 (P127S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 328428	NM_173483.4(CYP4F22):c.387T>C (p.Asp129=)	CYP4F22	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GConflicting classifications of pathogenicity
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 784549	NM_173483.4(CYP4F22):c.421+8C>A	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 560333	NM_173483.4(CYP4F22):c.429dup (p.Leu144fs)	CYP4F22 (L144fs)	Duplication (frameshift variant)	Lamellar ichthyosis	GLikely pathogenic
Select item 328429	NM_173483.4(CYP4F22):c.447T>C (p.Gly149=)	CYP4F22	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GBenign
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 328430	NM_173483.4(CYP4F22):c.461G>A (p.Arg154Gln)	CYP4F22 (R154Q)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 717640	NM_173483.4(CYP4F22):c.463C>T (p.His155Tyr)	CYP4F22 (H155Y)	Single nucleotide variant (missense variant)	CYP4F22-related disorder +1 more	GConflicting classifications of pathogenicity
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 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 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 1940962	NM_173483.4(CYP4F22):c.483C>T (p.Pro161=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761242	NM_173483.4(CYP4F22):c.484G>A (p.Ala162Thr)	CYP4F22 (A162T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 560307	NM_173483.4(CYP4F22):c.493_499delinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe)	CYP4F22	Indel (missense variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 328431	NM_173483.4(CYP4F22):c.532A>T (p.Ser178Cys)	CYP4F22 (S178C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GBenign
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 560338	NM_173483.4(CYP4F22):c.549+5G>C	CYP4F22	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
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 560308	NM_173483.4(CYP4F22):c.550-2A>T	CYP4F22	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 2748843	NM_173483.4(CYP4F22):c.559C>T (p.Arg187Trp)	CYP4F22 (R187W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2038108	NM_173483.4(CYP4F22):c.581C>T (p.Ala194Val)	CYP4F22 (A194V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 262835	NM_173483.4(CYP4F22):c.582G>A (p.Ala194=)	CYP4F22	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 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 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 560310	NM_173483.4(CYP4F22):c.643_644del (p.Val215fs)	CYP4F22 (V215fs)	Microsatellite (frameshift variant)	Autosomal recessive congenital ichthyosis 5	GPathogenic
Select item 3079723	NM_173483.4(CYP4F22):c.641G>C (p.Cys214Ser)	CYP4F22 (C214S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 328432	NM_173483.4(CYP4F22):c.659G>C (p.Ser220Thr)	CYP4F22 (S220T)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 328433	NM_173483.4(CYP4F22):c.667C>T (p.Gln223Ter)	CYP4F22 (Q223*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 5	GUncertain significance
Select item 1268746	NM_173483.4(CYP4F22):c.671+63G>T	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295137	NM_173483.4(CYP4F22):c.672-169G>A	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 328434	NM_173483.4(CYP4F22):c.672-9C>T	CYP4F22	Single nucleotide variant (intron variant)	not provided +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
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 1369715	NM_173483.4(CYP4F22):c.711C>G (p.Ser237Arg)	CYP4F22 (S237R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 560316	NM_173483.4(CYP4F22):c.720_723del (p.Val241fs)	CYP4F22 (V241fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2296032	NM_173483.4(CYP4F22):c.724C>T (p.Arg242Trp)	CYP4F22 (R242W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 911	NM_173483.4(CYP4F22):c.728G>A (p.Arg243His)	CYP4F22 (R243H)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +1 more	GPathogenic
Select item 2228919	NM_173483.4(CYP4F22):c.731A>G (p.Gln244Arg)	CYP4F22 (Q244R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1134380	NM_173483.4(CYP4F22):c.734A>G (p.Tyr245Cys)	CYP4F22 (Y245C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 328436	NM_173483.4(CYP4F22):c.736C>T (p.Arg246Cys)	CYP4F22 (R246C)	Single nucleotide variant (missense variant)	CYP4F22-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2622205	NM_173483.4(CYP4F22):c.737G>A (p.Arg246His)	CYP4F22 (R246H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2466457	NM_173483.4(CYP4F22):c.754G>A (p.Asp252Asn)	CYP4F22 (D252N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723432	NM_173483.4(CYP4F22):c.759_760del (p.Ile254fs)	CYP4F22 (I254fs)	Deletion (frameshift variant)	Lamellar ichthyosis	GLikely pathogenic
Select item 1985912	NM_173483.4(CYP4F22):c.770G>A (p.Arg257His)	CYP4F22 (R257H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 759340	NM_173483.4(CYP4F22):c.777G>A (p.Ala259=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GBenign
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

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