ClinVar for Gene (Select 126410) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270682	NM_173483.4(CYP4F22):c.1015A>T (p.Thr339Ser)	CYP4F22 (T339S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270681	NM_173483.4(CYP4F22):c.620C>T (p.Thr207Ile)	CYP4F22 (T207I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270680	NM_173483.4(CYP4F22):c.721G>C (p.Val241Leu)	CYP4F22 (V241L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242731	NC_000019.9:g.(?_15661465)_(15662282_?)del	CYP4F22	Deletion	not provided	GPathogenic
Select item 3079724	NM_173483.4(CYP4F22):c.848G>A (p.Arg283Gln)	CYP4F22 (R283Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3079722	NM_173483.4(CYP4F22):c.163C>T (p.Arg55Trp)	CYP4F22 (R55W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079721	NM_173483.4(CYP4F22):c.1527G>T (p.Lys509Asn)	CYP4F22 (K509N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079720	NM_173483.4(CYP4F22):c.1400C>A (p.Pro467His)	CYP4F22 (P467H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079718	NM_173483.4(CYP4F22):c.1358A>T (p.Asp453Val)	CYP4F22 (D453V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3062383	GRCh37/hg19 19p13.12(chr19:15263384-15683826)x3	AKAP8, AKAP8L +7 more	Copy number gain	not specified	GUncertain significance
Select item 3046948	NM_173483.4(CYP4F22):c.1140C>T (p.Asp380=)	CYP4F22	Single nucleotide variant (synonymous variant)	CYP4F22-related disorder	GLikely benign
Select item 3004571	NM_173483.4(CYP4F22):c.1271-7C>T	CYP4F22	Single nucleotide variant (intron variant)	not provided +1 more	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 2957094	NM_173483.4(CYP4F22):c.368-13T>C	CYP4F22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903768	NM_173483.4(CYP4F22):c.1317A>G (p.Thr439=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858667	NM_173483.4(CYP4F22):c.285A>C (p.Val95=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2681226	NM_173483.4(CYP4F22):c.1456C>T (p.Arg486Cys)	CYP4F22 (R486C)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
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 2616919	NM_173483.4(CYP4F22):c.50C>G (p.Thr17Arg)	CYP4F22 (T17R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2581359	NM_173483.4(CYP4F22):c.1352G>A (p.Arg451His)	CYP4F22 (R451H)	Single nucleotide variant (missense variant)	not specified	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 2553212	NM_173483.4(CYP4F22):c.1397T>C (p.Val466Ala)	CYP4F22 (V466A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514522	NM_173483.4(CYP4F22):c.1276A>G (p.Ile426Val)	CYP4F22 (I426V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
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 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	SLC1A6, RAB8A +57 more	Deletion	not provided	GUncertain significance
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 2324212	NM_173483.4(CYP4F22):c.851G>A (p.Arg284Gln)	CYP4F22 (R284Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301787	NM_173483.4(CYP4F22):c.1409C>T (p.Ala470Val)	CYP4F22 (A470V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2289753	NM_173483.4(CYP4F22):c.1430G>A (p.Gly477Glu)	CYP4F22 (G477E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2205669	NM_173483.4(CYP4F22):c.1256G>A (p.Arg419His)	CYP4F22 (R419H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2118196	NM_173483.4(CYP4F22):c.62_64dup (p.Ile21_Tyr22insLeu)	CYP4F22	Duplication (inframe_insertion)	not provided	GUncertain significance
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 2061051	NM_173483.4(CYP4F22):c.161G>A (p.Arg54His)	CYP4F22 (R54H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2005456	NM_173483.4(CYP4F22):c.251A>T (p.Asp84Val)	CYP4F22 (D84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997987	NM_173483.4(CYP4F22):c.1554_1555del (p.Asn518fs)	CYP4F22 (N518fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1987559	NM_173483.4(CYP4F22):c.1335+17C>G	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
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 1956983	NM_173483.4(CYP4F22):c.1557G>A (p.Gly519=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940962	NM_173483.4(CYP4F22):c.483C>T (p.Pro161=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933832	NM_173483.4(CYP4F22):c.888G>A (p.Lys296=)	CYP4F22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913458	NM_173483.4(CYP4F22):c.1007-15C>T	CYP4F22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1803469	NM_173483.4(CYP4F22):c.1475C>T (p.Thr492Ile)	CYP4F22 (T492I)	Single nucleotide variant (missense variant)	not provided	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 1711474	NM_173483.4(CYP4F22):c.1295A>G (p.Tyr432Cys)	CYP4F22 (Y432C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1696033	NM_173483.4(CYP4F22):c.1217C>T (p.Ser406Phe)	CYP4F22 (S406F)	Single nucleotide variant (missense variant)	not specified	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 1602078	NM_173483.4(CYP4F22):c.966C>T (p.Asp322=)	CYP4F22	Single nucleotide variant (synonymous variant)	CYP4F22-related disorder +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 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
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 1459651	NC_000019.9:g.(?_15636148)_(15662282_?)del	CYP4F22	Deletion	not provided	GPathogenic
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 1398773	NM_173483.4(CYP4F22):c.1483C>T (p.Arg495Cys)	CYP4F22 (R495C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392931	NM_173483.4(CYP4F22):c.1395T>A (p.Tyr465Ter)	CYP4F22 (Y465*)	Single nucleotide variant (nonsense)	not provided	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 1297201	NM_173483.4(CYP4F22):c.1136+78C>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 1295048	NM_173483.4(CYP4F22):c.1137-114_1137-105del	CYP4F22	Deletion (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 1291711	NM_173483.4(CYP4F22):c.222+313T>A	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289947	NM_173483.4(CYP4F22):c.1137-112_1137-105del	CYP4F22	Deletion (intron variant)	not provided	GBenign
Select item 1287135	NM_173483.4(CYP4F22):c.1137-112_1137-107del	CYP4F22	Deletion (intron variant)	not provided	GBenign
Select item 1286241	NM_173483.4(CYP4F22):c.367+308G>A	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281411	NM_173483.4(CYP4F22):c.1336-101del	CYP4F22	Deletion (intron variant)	not provided	GBenign
Select item 1277673	NM_173483.4(CYP4F22):c.939+32C>G	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275228	NM_173483.4(CYP4F22):c.1137-106A>T	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274064	NM_173483.4(CYP4F22):c.940-151G>A	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272229	NM_173483.4(CYP4F22):c.1137-114_1137-103del	CYP4F22	Deletion (intron variant)	not provided	GBenign
Select item 1269161	NM_173483.4(CYP4F22):c.1137-112_1137-99del	CYP4F22	Deletion (intron variant)	not provided	GBenign
Select item 1268746	NM_173483.4(CYP4F22):c.671+63G>T	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265237	NM_173483.4(CYP4F22):c.1137-114_1137-95del	CYP4F22	Deletion (intron variant)	not provided	GBenign
Select item 1262638	NM_173483.4(CYP4F22):c.939+28_939+29insAGC	CYP4F22	Insertion (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 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 1251024	NM_173483.4(CYP4F22):c.1137-105GT[25]	CYP4F22	Microsatellite (intron variant)	not provided	GBenign
Select item 1250677	NM_173483.4(CYP4F22):c.940-95_940-94del	CYP4F22	Deletion (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 1244756	NM_173483.4(CYP4F22):c.939+147C>T	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242233	NM_173483.4(CYP4F22):c.1419-229A>G	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238997	NM_173483.4(CYP4F22):c.939+35del	CYP4F22	Deletion (intron variant)	not provided	GBenign
Select item 1237700	NM_173483.4(CYP4F22):c.-1-29A>G	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237473	NM_173483.4(CYP4F22):c.939+21_939+22del	CYP4F22	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1233287	NM_173483.4(CYP4F22):c.1136+220A>G	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233112	NM_173483.4(CYP4F22):c.1136+63C>G	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230876	NM_173483.4(CYP4F22):c.1137-139GA[12]	CYP4F22	Microsatellite (intron variant)	not provided	GBenign
Select item 1230046	NM_173483.4(CYP4F22):c.1137-112G>A	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224198	NM_173483.4(CYP4F22):c.1137-108A>T	CYP4F22	Single nucleotide variant (intron variant)	not provided	GBenign

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