"Invitae"[submitter] AND "CYP4V2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 644265	NC_000004.12:g.(?_185684754)_(186709827_?)del	SORBS2, TLR3 +26 more	Deletion	not provided	GPathogenic
Select item 2007926	NM_207352.4(CYP4V2):c.13_24dup (p.Leu8_Val9insTrpLeuGlyLeu)	CYP4V2, LOC129993526	Duplication (inframe_insertion)	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 2137155	NM_207352.4(CYP4V2):c.12C>G (p.Leu4=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1005466	NM_207352.4(CYP4V2):c.14G>C (p.Trp5Ser)	CYP4V2, LOC129993526 (W5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661224	NM_207352.4(CYP4V2):c.24C>G (p.Leu8=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 348296	NM_207352.4(CYP4V2):c.24C>T (p.Leu8=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
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 794058	NM_207352.4(CYP4V2):c.37C>T (p.Leu13=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1026579	NM_207352.4(CYP4V2):c.40C>G (p.Leu14Val)	CYP4V2, LOC129993526 (L14V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 840464	NM_207352.4(CYP4V2):c.44T>C (p.Leu15Pro)	CYP4V2, LOC129993526 (L15P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2753312	NM_207352.4(CYP4V2):c.46del (p.Trp16fs)	CYP4V2, LOC129993526 (W16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1933599	NM_207352.4(CYP4V2):c.61G>A (p.Ala21Thr)	CYP4V2, LOC129993526 (A21T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 39267	NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)	CYP4V2, LOC129993526 (L22V)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 953153	NM_207352.4(CYP4V2):c.68C>A (p.Ser23Tyr)	CYP4V2, LOC129993526 (S23Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420881	NM_207352.4(CYP4V2):c.73G>A (p.Ala25Thr)	CYP4V2 (A25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1906530	NM_207352.4(CYP4V2):c.79G>A (p.Ala27Thr)	CYP4V2 (A27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419306	NM_207352.4(CYP4V2):c.82A>G (p.Ser28Gly)	CYP4V2 (S28G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1996315	NM_207352.4(CYP4V2):c.83G>C (p.Ser28Thr)	CYP4V2 (S28T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631277	NM_207352.4(CYP4V2):c.91C>T (p.Leu31=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782095	NM_207352.4(CYP4V2):c.99G>A (p.Leu33=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1039696	NM_207352.4(CYP4V2):c.101T>C (p.Leu34Pro)	CYP4V2 (L34P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629293	NM_207352.4(CYP4V2):c.120C>T (p.Tyr40=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716112	NM_207352.4(CYP4V2):c.124C>G (p.Arg42Gly)	CYP4V2 (R42G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187	NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg)	CYP4V2 (W44R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1039750	NM_207352.4(CYP4V2):c.143G>C (p.Arg48Pro)	CYP4V2 (R48P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1093082	NM_207352.4(CYP4V2):c.147C>G (p.Pro49=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 348297	NM_207352.4(CYP4V2):c.163C>A (p.Arg55Ser)	CYP4V2 (R55S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1508200	NM_207352.4(CYP4V2):c.167C>T (p.Ala56Val)	CYP4V2 (A56V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1149578	NM_207352.4(CYP4V2):c.168C>G (p.Ala56=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 96675	NM_207352.4(CYP4V2):c.169T>C (p.Tyr57His)	CYP4V2 (Y57H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1146324	NM_207352.4(CYP4V2):c.174A>G (p.Pro58=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082718	NM_207352.4(CYP4V2):c.175C>T (p.Leu59=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 845917	NM_207352.4(CYP4V2):c.176del (p.Leu59fs)	CYP4V2 (L59fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1657181	NM_207352.4(CYP4V2):c.183C>G (p.Gly61=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1619904	NM_207352.4(CYP4V2):c.189G>A (p.Ala63=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866106	NM_207352.4(CYP4V2):c.194T>C (p.Leu65Pro)	CYP4V2 (L65P)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 438149	NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg)	CYP4V2 (M66R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 1488574	NM_207352.4(CYP4V2):c.206A>T (p.Asp69Val)	CYP4V2 (D69V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377476	NM_207352.4(CYP4V2):c.208G>C (p.Gly70Arg)	CYP4V2 (G70R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474833	NM_207352.4(CYP4V2):c.214G>C (p.Glu72Gln)	CYP4V2 (E72Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 935191	NM_207352.4(CYP4V2):c.214G>A (p.Glu72Lys)	CYP4V2 (E72K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2760746	NM_207352.4(CYP4V2):c.214+7G>A	CYP4V2	Single nucleotide variant (intron 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 1990362	NM_207352.4(CYP4V2):c.214+9C>A	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1100448	NM_207352.4(CYP4V2):c.214+9C>T	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1116316	NM_207352.4(CYP4V2):c.214+10G>C	CYP4V2	Single nucleotide variant (intron 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 1650527	NM_207352.4(CYP4V2):c.214+17C>T	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626242	NM_207352.4(CYP4V2):c.215-20A>T	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1477247	NM_207352.4(CYP4V2):c.215-6C>T	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1490786	NM_207352.4(CYP4V2):c.215A>T (p.Glu72Val)	CYP4V2 (E72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1515785	NM_207352.4(CYP4V2):c.217T>G (p.Phe73Val)	CYP4V2 (F73V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917266	NM_207352.4(CYP4V2):c.218T>G (p.Phe73Cys)	CYP4V2 (F73C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734687	NM_207352.4(CYP4V2):c.219T>A (p.Phe73Leu)	CYP4V2 (F73L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1044899	NM_207352.4(CYP4V2):c.229A>T (p.Ile77Phe)	CYP4V2 (I77F)	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 2817615	NM_207352.4(CYP4V2):c.231C>A (p.Ile77=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142902	NM_207352.4(CYP4V2):c.232_234del (p.Ile78del)	CYP4V2 (I78del)	Deletion (inframe_deletion)	not provided	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 1426581	NM_207352.4(CYP4V2):c.234T>G (p.Ile78Met)	CYP4V2 (I78M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39259	NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp)	CYP4V2 (E79D)	Single nucleotide variant (missense variant)	Corneal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1126823	NM_207352.4(CYP4V2):c.240C>T (p.Tyr80=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1504129	NM_207352.4(CYP4V2):c.242C>G (p.Thr81Arg)	CYP4V2 (T81R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356082	NM_207352.4(CYP4V2):c.250dup (p.Tyr84fs)	CYP4V2 (Y84fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 39260	NM_207352.4(CYP4V2):c.253C>T (p.Arg85Cys)	CYP4V2 (R85C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1486174	NM_207352.4(CYP4V2):c.254G>A (p.Arg85His)	CYP4V2 (R85H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2994673	NM_207352.4(CYP4V2):c.258C>T (p.His86=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 944019	NM_207352.4(CYP4V2):c.263_265del (p.Pro88del)	CYP4V2 (P88del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1061065	NM_207352.4(CYP4V2):c.263C>T (p.Pro88Leu)	CYP4V2 (P88L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1101382	NM_207352.4(CYP4V2):c.264G>A (p.Pro88=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750554	NM_207352.4(CYP4V2):c.264G>T (p.Pro88=)	CYP4V2	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 722704	NM_207352.4(CYP4V2):c.270G>A (p.Leu90=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424951	NM_207352.4(CYP4V2):c.272A>G (p.Lys91Arg)	CYP4V2 (K91R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477235	NM_207352.4(CYP4V2):c.274C>T (p.Leu92Phe)	CYP4V2 (L92F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1458402	NM_207352.4(CYP4V2):c.280del (p.Val94fs)	CYP4V2 (V94fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 348298	NM_207352.4(CYP4V2):c.282C>T (p.Val94=)	CYP4V2	Single nucleotide variant (synonymous variant)	Corneal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 39261	NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)	CYP4V2 (G95R)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1958068	NM_207352.4(CYP4V2):c.292C>T (p.Pro98Ser)	CYP4V2 (P98S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 850690	NM_207352.4(CYP4V2):c.296T>C (p.Met99Thr)	CYP4V2 (M99T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 348299	NM_207352.4(CYP4V2):c.302C>T (p.Ala101Val)	CYP4V2 (A101V)	Single nucleotide variant (missense variant)	Corneal dystrophy +2 more	GUncertain significance
Select item 2041487	NM_207352.4(CYP4V2):c.306T>C (p.Leu102=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355601	NM_207352.4(CYP4V2):c.310A>G (p.Asn104Asp)	CYP4V2 (N104D)	Single nucleotide variant (missense variant)	not provided	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 39262	NM_207352.4(CYP4V2):c.327+1G>A	CYP4V2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1137157	NM_207352.4(CYP4V2):c.327+7A>G	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 348301	NM_207352.4(CYP4V2):c.327+11G>C	CYP4V2	Single nucleotide variant (intron variant)	Bietti crystalline corneoretinal dystrophy +3 more	GBenign/Likely benign
Select item 1661342	NM_207352.4(CYP4V2):c.327+20A>T	CYP4V2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923649	NM_207352.4(CYP4V2):c.328-12del	CYP4V2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1005212	NM_207352.4(CYP4V2):c.328-3A>G	CYP4V2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1414526	NM_207352.4(CYP4V2):c.332T>A (p.Ile111Asn)	CYP4V2 (I111N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188	NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr)	CYP4V2 (I111T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1522520	NM_207352.4(CYP4V2):c.337A>G (p.Thr113Ala)	CYP4V2 (T113A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036016	NM_207352.4(CYP4V2):c.338C>G (p.Thr113Ser)	CYP4V2 (T113S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359476	NM_207352.4(CYP4V2):c.343T>A (p.Ser115Thr)	CYP4V2 (S115T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549586	NM_207352.4(CYP4V2):c.345A>G (p.Ser115=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550119	NM_207352.4(CYP4V2):c.348G>A (p.Lys116=)	CYP4V2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1021205	NM_207352.4(CYP4V2):c.350A>C (p.Gln117Pro)	CYP4V2 (Q117P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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