ClinVar for Gene (Select 285440) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246717	NC_000004.11:g.(?_186064502)_(187630981_?)dup	ANKRD37, CCDC110 +15 more	Duplication	not provided	GUncertain significance
Select item 3239433	NM_207352.4(CYP4V2):c.283G>C (p.Gly95Arg)	CYP4V2 (G95R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3079742	NM_207352.4(CYP4V2):c.1478A>G (p.Asn493Ser)	CYP4V2 (N493S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079741	NM_207352.4(CYP4V2):c.1436C>A (p.Thr479Asn)	CYP4V2 (T479N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075981	NM_207352.4(CYP4V2):c.47G>A (p.Trp16Ter)	CYP4V2, LOC129993526 (W16*)	Single nucleotide variant (nonsense)	Bietti crystalline corneoretinal dystrophy	GLikely pathogenic
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3027692	NM_207352.4(CYP4V2):c.1526C>G (p.Pro509Arg)	CYP4V2 (P509R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027690	NM_207352.4(CYP4V2):c.1297T>C (p.Phe433Leu)	CYP4V2 (F433L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027689	NM_207352.4(CYP4V2):c.1090G>A (p.Gly364Arg)	CYP4V2 (G364R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027688	NM_207352.4(CYP4V2):c.960A>T (p.Arg320=)	CYP4V2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027687	NM_207352.4(CYP4V2):c.959G>T (p.Arg320Leu)	CYP4V2 (R320L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027686	NM_207352.4(CYP4V2):c.873del (p.Ser292fs)	CYP4V2 (S292fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027684	NM_207352.4(CYP4V2):c.152C>T (p.Pro51Leu)	CYP4V2 (P51L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027683	NM_207352.4(CYP4V2):c.123G>A (p.Ala41=)	CYP4V2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027682	NM_207352.4(CYP4V2):c.106A>G (p.Arg36Gly)	CYP4V2 (R36G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	ARHGEF38, ARL9 +537 more	Copy number gain	not provided	GPathogenic
Select item 3008715	NM_207352.4(CYP4V2):c.988-12C>T	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007899	NM_207352.4(CYP4V2):c.1507G>C (p.Gly503Arg)	CYP4V2 (G503R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995481	NM_207352.4(CYP4V2):c.1226-7T>C	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994673	NM_207352.4(CYP4V2):c.258C>T (p.His86=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990976	NM_207352.4(CYP4V2):c.214+9C>G	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979819	NM_207352.4(CYP4V2):c.987+14T>A	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976397	NM_207352.4(CYP4V2):c.217T>C (p.Phe73Leu)	CYP4V2 (F73L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2960417	NM_207352.4(CYP4V2):c.1226-13T>C	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853446	NM_207352.4(CYP4V2):c.1008T>C (p.Ala336=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817615	NM_207352.4(CYP4V2):c.231C>A (p.Ile77=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795780	NM_207352.4(CYP4V2):c.1091-11G>C	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794912	NM_207352.4(CYP4V2):c.1069del (p.His357fs)	CYP4V2 (H357fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2786444	NM_207352.4(CYP4V2):c.1446G>C (p.Ser482=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781124	NM_207352.4(CYP4V2):c.1101C>T (p.Asp367=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766104	NM_207352.4(CYP4V2):c.801+19C>A	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760746	NM_207352.4(CYP4V2):c.214+7G>A	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753312	NM_207352.4(CYP4V2):c.46del (p.Trp16fs)	CYP4V2, LOC129993526 (W16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2734687	NM_207352.4(CYP4V2):c.219T>A (p.Phe73Leu)	CYP4V2 (F73L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2713062	NM_207352.4(CYP4V2):c.1169G>C (p.Arg390Pro)	CYP4V2 (R390P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702687	NM_207352.4(CYP4V2):c.1513T>C (p.Leu505=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685138	GRCh37/hg19 4q35.1-35.2(chr4:187040986-190957473)x1	CYP4V2, F11 +9 more	Copy number loss	not provided	GUncertain significance
Select item 2685137	GRCh37/hg19 4q35.1-35.2(chr4:186950483-187201211)x1	CYP4V2, F11 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2685136	GRCh37/hg19 4q35.1-35.2(chr4:186805036-188558860)x1	CYP4V2, F11 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 2542059	NM_207352.4(CYP4V2):c.463C>T (p.His155Tyr)	CYP4V2 (H155Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427778	NC_000004.11:g.(?_187126334)_(187131795_?)del	CYP4V2	Deletion	not provided	GPathogenic
Select item 2422396	NC_000004.11:g.(?_187112968)_(187201744_?)del	CYP4V2, F11 +1 more	Deletion	not provided	GPathogenic
Select item 2420881	NM_207352.4(CYP4V2):c.73G>A (p.Ala25Thr)	CYP4V2 (A25T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2340714	NM_207352.4(CYP4V2):c.1112C>T (p.Thr371Ile)	CYP4V2 (T371I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339943	NM_207352.4(CYP4V2):c.207C>A (p.Asp69Glu)	CYP4V2 (D69E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321601	NM_207352.4(CYP4V2):c.1462T>G (p.Phe488Val)	CYP4V2 (F488V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301651	NM_207352.4(CYP4V2):c.186C>G (p.His62Gln)	CYP4V2 (H62Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273556	NM_207352.4(CYP4V2):c.832G>A (p.Ala278Thr)	CYP4V2 (A278T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182864	NM_207352.4(CYP4V2):c.234T>C (p.Ile78=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180681	NM_207352.4(CYP4V2):c.1108G>A (p.Ala370Thr)	CYP4V2 (A370T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2172476	NM_207352.4(CYP4V2):c.1107C>T (p.Pro369=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151994	NM_207352.4(CYP4V2):c.1216T>C (p.Cys406Arg)	CYP4V2 (C406R)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 2142902	NM_207352.4(CYP4V2):c.232_234del (p.Ile78del)	CYP4V2 (I78del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2137155	NM_207352.4(CYP4V2):c.12C>G (p.Leu4=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135611	NM_207352.4(CYP4V2):c.1225+5G>A	CYP4V2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2134243	NM_207352.4(CYP4V2):c.414-13A>T	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2131760	NM_207352.4(CYP4V2):c.1100A>G (p.Asp367Gly)	CYP4V2 (D367G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127721	NM_207352.4(CYP4V2):c.9G>T (p.Gly3=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2125317	NM_207352.4(CYP4V2):c.1235G>A (p.Arg412Lys)	CYP4V2 (R412K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123916	NM_207352.4(CYP4V2):c.863G>A (p.Gly288Asp)	CYP4V2 (G288D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122888	NM_207352.4(CYP4V2):c.25G>C (p.Val9Leu)	CYP4V2, LOC129993526 (V9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121359	NM_207352.4(CYP4V2):c.717T>G (p.Leu239=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119167	NM_207352.4(CYP4V2):c.1217G>A (p.Cys406Tyr)	CYP4V2 (C406Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118156	NM_207352.4(CYP4V2):c.1370A>G (p.Tyr457Cys)	CYP4V2 (Y457C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117903	NM_207352.4(CYP4V2):c.936C>T (p.Asn312=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109092	NM_207352.4(CYP4V2):c.988-11T>A	CYP4V2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2109062	NM_207352.4(CYP4V2):c.988-3T>C	CYP4V2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2105509	NM_207352.4(CYP4V2):c.802-18A>G	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098841	NM_207352.4(CYP4V2):c.1225+10C>T	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2097909	NM_207352.4(CYP4V2):c.661C>A (p.Arg221Ser)	CYP4V2 (R221S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097644	NM_207352.4(CYP4V2):c.231_234del (p.Ile77fs)	CYP4V2 (I77fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2094332	NM_207352.4(CYP4V2):c.482A>T (p.Asp161Val)	CYP4V2 (D161V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087705	NM_207352.4(CYP4V2):c.540C>G (p.His180Gln)	CYP4V2 (H180Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082718	NM_207352.4(CYP4V2):c.175C>T (p.Leu59=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076071	NM_207352.4(CYP4V2):c.205G>A (p.Asp69Asn)	CYP4V2 (D69N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074739	NM_207352.4(CYP4V2):c.741G>A (p.Met247Ile)	CYP4V2 (M247I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071360	NM_207352.4(CYP4V2):c.423C>G (p.Asn141Lys)	CYP4V2 (N141K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067799	NM_207352.4(CYP4V2):c.1446G>T (p.Ser482=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064093	NM_207352.4(CYP4V2):c.1201A>G (p.Ser401Gly)	CYP4V2 (S401G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2055213	NM_207352.4(CYP4V2):c.323T>G (p.Val108Gly)	CYP4V2 (V108G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043913	NM_207352.4(CYP4V2):c.413+8A>C	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2043557	NM_207352.4(CYP4V2):c.413+1G>A	CYP4V2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2043548	NM_207352.4(CYP4V2):c.413+7del	CYP4V2	Deletion (intron variant)	not provided	GLikely benign
Select item 2041487	NM_207352.4(CYP4V2):c.306T>C (p.Leu102=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040921	NM_207352.4(CYP4V2):c.1307C>G (p.Pro436Arg)	CYP4V2 (P436R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038554	NM_207352.4(CYP4V2):c.1459C>A (p.His487Asn)	CYP4V2 (H487N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033513	NM_207352.4(CYP4V2):c.413+1G>C	CYP4V2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2022565	NM_207352.4(CYP4V2):c.1152T>C (p.Val384=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019775	NM_207352.4(CYP4V2):c.214+12C>T	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014719	NM_207352.4(CYP4V2):c.837T>A (p.Asn279Lys)	CYP4V2 (N279K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012889	NM_207352.4(CYP4V2):c.1070A>G (p.His357Arg)	CYP4V2 (H357R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010688	NM_207352.4(CYP4V2):c.605-4A>G	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009574	NM_207352.4(CYP4V2):c.1225+3A>T	CYP4V2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2007926	NM_207352.4(CYP4V2):c.13_24dup (p.Leu8_Val9insTrpLeuGlyLeu)	CYP4V2, LOC129993526	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2000769	NM_207352.4(CYP4V2):c.1470A>G (p.Ile490Met)	CYP4V2 (I490M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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