"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CYP4F22 - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 510003	NM_173483.4(CYP4F22):c.20G>A (p.Arg7His)	CYP4F22 (R7H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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)	Autosomal recessive congenital ichthyosis 5 +1 more	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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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)	Inborn genetic diseases +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 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 729586	NM_173483.4(CYP4F22):c.192G>T (p.Arg64=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328425	NM_173483.4(CYP4F22):c.222+15G>A	CYP4F22	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 784549	NM_173483.4(CYP4F22):c.421+8C>A	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
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 717640	NM_173483.4(CYP4F22):c.463C>T (p.His155Tyr)	CYP4F22 (H155Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 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 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)	Autosomal recessive congenital ichthyosis 5 +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 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 328434	NM_173483.4(CYP4F22):c.672-9C>T	CYP4F22	Single nucleotide variant (intron 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)	Autosomal recessive congenital ichthyosis 5 +1 more	GBenign/Likely benign
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 provided +1 more	GLikely benign
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 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 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 1541566	NM_173483.4(CYP4F22):c.867G>A (p.Gln289=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985877	NM_173483.4(CYP4F22):c.868G>T (p.Gly290Trp)	CYP4F22 (G290W)	Single nucleotide variant (missense variant)	not provided	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 +1 more	GConflicting classifications of pathogenicity
Select item 1933832	NM_173483.4(CYP4F22):c.888G>A (p.Lys296=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328441	NM_173483.4(CYP4F22):c.939+15_939+16del	CYP4F22	Deletion (intron variant)	Congenital ichthyosiform erythroderma +2 more	GBenign
Select item 328442	NM_173483.4(CYP4F22):c.939+15_939+40delinsTGGAGGGTGGAGCCCTGCCTGGGA	CYP4F22	Indel (intron variant)	Congenital ichthyosiform erythroderma +1 more	GConflicting classifications of pathogenicity
Select item 560318	NM_173483.4(CYP4F22):c.940-1G>A	CYP4F22	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1602078	NM_173483.4(CYP4F22):c.966C>T (p.Asp322=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328444	NM_173483.4(CYP4F22):c.1006+13G>A	CYP4F22	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 1913458	NM_173483.4(CYP4F22):c.1007-15C>T	CYP4F22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1423291	NM_173483.4(CYP4F22):c.1069T>C (p.Tyr357His)	CYP4F22 (Y357H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004571	NM_173483.4(CYP4F22):c.1271-7C>T	CYP4F22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 909	NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr)	CYP4F22 (H435Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 2903768	NM_173483.4(CYP4F22):c.1317A>G (p.Thr439=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987559	NM_173483.4(CYP4F22):c.1335+17C>G	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1392931	NM_173483.4(CYP4F22):c.1395T>A (p.Tyr465Ter)	CYP4F22 (Y465*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 794081	NM_173483.4(CYP4F22):c.1428C>T (p.Ile476=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398773	NM_173483.4(CYP4F22):c.1483C>T (p.Arg495Cys)	CYP4F22 (R495C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328447	NM_173483.4(CYP4F22):c.1513A>C (p.Lys505Gln)	CYP4F22 (K505Q)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 5 +1 more	GBenign
Select item 2141125	NM_173483.4(CYP4F22):c.1531G>C (p.Glu511Gln)	CYP4F22 (E511Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1997987	NM_173483.4(CYP4F22):c.1554_1555del (p.Asn518fs)	CYP4F22 (N518fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1956983	NM_173483.4(CYP4F22):c.1557G>A (p.Gly519=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242731	NC_000019.9:g.(?_15661465)_(15662282_?)del	CYP4F22	Deletion	not provided	GPathogenic
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 1459651	NC_000019.9:g.(?_15636148)_(15662282_?)del	CYP4F22	Deletion	not provided	GPathogenic

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Items: 66