Related gene-specific medical variations for Gene (Select 153443) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347451	NM_002317.7(LOX):c.22C>T (p.Leu8Phe)	LOX, SRFBP1 (L8F)	Single nucleotide variant (missense variant)	LOX-related disorder	GUncertain significance
Select item 3345307	NM_002317.7(LOX):c.741-2A>T	LOX, SRFBP1	Single nucleotide variant (splice acceptor variant)	LOX-related disorder	GLikely pathogenic
Select item 3336903	NM_002317.7(LOX):c.1222dup (p.Tyr408fs)	LOX, SRFBP1 (Y111fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3291082	NM_002317.7(LOX):c.520C>A (p.Pro174Thr)	LOX, SRFBP1 (P174T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3291081	NM_002317.7(LOX):c.941G>C (p.Arg314Thr)	LOX, SRFBP1 (R84T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3291080	NM_002317.7(LOX):c.283C>T (p.Arg95Cys)	LOX, SRFBP1 (R95C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3291079	NM_002317.7(LOX):c.842G>A (p.Arg281Gln)	LOX, SRFBP1 (R281Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3291078	NM_002317.7(LOX):c.694T>G (p.Ser232Ala)	LOX, SRFBP1 (S232A +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3291077	NM_002317.7(LOX):c.1003C>G (p.His335Asp)	LOX, SRFBP1 (H335D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3291076	NM_002317.7(LOX):c.232G>A (p.Gly78Ser)	LOX, SRFBP1 (G78S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3252919	NM_002317.7(LOX):c.52C>A (p.Leu18Ile)	LOX, SRFBP1 (L18I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3222078	NM_002317.7(LOX):c.959A>T (p.Lys320Ile)	LOX, SRFBP1 (K23I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222077	NM_002317.7(LOX):c.617G>A (p.Gly206Asp)	LOX, SRFBP1 (G206D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222076	NM_002317.7(LOX):c.558C>G (p.Tyr186Ter)	LOX, SRFBP1 (Y186*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 3222075	NM_002317.7(LOX):c.485G>T (p.Arg162Leu)	LOX, SRFBP1 (R162L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222074	NM_002317.7(LOX):c.425C>G (p.Ala142Gly)	LOX, SRFBP1 (A142G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222073	NM_002317.7(LOX):c.355C>T (p.Pro119Ser)	LOX, SRFBP1 (P119S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222072	NM_002317.7(LOX):c.315G>A (p.Arg105=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3222070	NM_002317.7(LOX):c.206G>T (p.Arg69Leu)	LOX, SRFBP1 (R69L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222069	NM_002317.7(LOX):c.149A>T (p.Asn50Ile)	LOX, SRFBP1 (N50I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3119586	NM_002317.7(LOX):c.440C>A (p.Ala147Glu)	LOX, SRFBP1 (A147E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3119585	NM_002317.7(LOX):c.413G>A (p.Gly138Asp)	LOX, SRFBP1 (G138D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3119584	NM_002317.7(LOX):c.368A>G (p.His123Arg)	LOX, SRFBP1 (H123R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3119583	NM_002317.7(LOX):c.364C>G (p.Arg122Gly)	LOX, SRFBP1 (R122G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3119582	NM_002317.7(LOX):c.1119C>G (p.Asn373Lys)	LOX, SRFBP1 (N143K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3063923	NM_002317.7(LOX):c.91C>T (p.Pro31Ser)	LOX, SRFBP1 (P31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056533	NM_002317.7(LOX):c.273C>T (p.Ile91=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	LOX-related disorder	GLikely benign
Select item 3051592	NM_002317.7(LOX):c.968del (p.Phe323fs)	LOX, SRFBP1 (F26fs +2 more)	Deletion (frameshift variant)	LOX-related disorder	GUncertain significance
Select item 3027068	NM_002317.7(LOX):c.670G>C (p.Ala224Pro)	LOX, SRFBP1 (A224P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3026756	NM_002317.7(LOX):c.912T>C (p.Tyr304=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021574	NM_002317.7(LOX):c.740+14T>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3017979	NM_002317.7(LOX):c.1047T>C (p.Pro349=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007540	NM_002317.7(LOX):c.1160C>T (p.Pro387Leu)	LOX, SRFBP1 (P157L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006923	NM_002317.7(LOX):c.66C>T (p.Ala22=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3004713	NM_002317.7(LOX):c.798C>T (p.Pro266=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002451	NM_002317.7(LOX):c.740+6G>C	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3002143	NM_002317.7(LOX):c.873T>C (p.Cys291=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001854	NM_002317.7(LOX):c.1156G>A (p.Val386Ile)	LOX, SRFBP1 (V386I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001636	NM_002317.7(LOX):c.80G>T (p.Gly27Val)	LOX, SRFBP1 (G27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998621	NM_002317.7(LOX):c.601C>G (p.Pro201Ala)	LOX, SRFBP1 (P201A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997980	NM_002317.7(LOX):c.1248-15G>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997911	NM_002317.7(LOX):c.68C>T (p.Pro23Leu)	LOX, SRFBP1 (P23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997321	NM_002317.7(LOX):c.417C>T (p.Ala139=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989875	NM_002317.7(LOX):c.522C>T (p.Pro174=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989254	NM_002317.7(LOX):c.86_87delinsGA (p.Gln29Arg)	LOX, SRFBP1 (Q29R)	Indel (missense variant)	not provided	GUncertain significance
Select item 2989148	NM_002317.7(LOX):c.1132-16T>C	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2987139	NM_002317.7(LOX):c.219C>T (p.Gly73=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986632	NM_002317.7(LOX):c.417C>G (p.Ala139=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985996	NM_002317.7(LOX):c.269C>G (p.Pro90Arg)	LOX, SRFBP1 (P90R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985962	NM_002317.7(LOX):c.1076T>C (p.Ile359Thr)	LOX, SRFBP1 (I129T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984327	NM_002317.7(LOX):c.181G>C (p.Gly61Arg)	LOX, SRFBP1 (G61R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2984208	NM_002317.7(LOX):c.879-6C>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982618	NM_002317.7(LOX):c.924T>G (p.Asp308Glu)	LOX, SRFBP1 (D78E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981420	NM_002317.7(LOX):c.106C>A (p.Pro36Thr)	LOX, SRFBP1 (P36T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978120	NM_002317.7(LOX):c.544C>T (p.Pro182Ser)	LOX, SRFBP1 (P182S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973881	NM_002317.7(LOX):c.879-19T>C	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970418	NM_002317.7(LOX):c.1248-20_1248-11del	LOX, SRFBP1	Deletion (intron variant)	not provided	GBenign
Select item 2965230	NM_002317.7(LOX):c.210G>A (p.Arg70=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964512	NM_002317.7(LOX):c.632-16G>A	LOX, SRFBP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2964320	NM_002317.7(LOX):c.250G>T (p.Ala84Ser)	LOX, SRFBP1 (A84S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963684	NM_002317.7(LOX):c.740+19G>C	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920861	NM_002317.7(LOX):c.95C>G (p.Pro32Arg)	LOX, SRFBP1 (P32R)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10	GUncertain significance
Select item 2906006	NM_002317.7(LOX):c.936G>A (p.Gln312=)	SRFBP1, LOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894964	NM_002317.7(LOX):c.1096A>G (p.Ile366Val)	LOX, SRFBP1 (I366V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879777	NM_002317.7(LOX):c.182G>A (p.Gly61Asp)	LOX, SRFBP1 (G61D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873468	NM_002317.7(LOX):c.1232G>C (p.Gly411Ala)	LOX, SRFBP1 (G181A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868993	NM_002317.7(LOX):c.879-16T>G	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868489	NM_002317.7(LOX):c.918G>C (p.Leu306=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867516	NM_002317.7(LOX):c.672G>T (p.Ala224=)	LOX, SRFBP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2864760	NM_002317.7(LOX):c.959A>C (p.Lys320Thr)	LOX, SRFBP1 (K90T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859556	NM_002317.7(LOX):c.878+10T>C	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852627	NM_002317.7(LOX):c.32G>C (p.Gly11Ala)	SRFBP1, LOX (G11A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844217	NM_002317.7(LOX):c.769dup (p.Tyr257fs)	LOX, SRFBP1 (Y27fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2843184	NM_002317.7(LOX):c.494G>A (p.Gly165Asp)	LOX, SRFBP1 (G165D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839807	NM_002317.7(LOX):c.1105G>A (p.Val369Ile)	LOX, SRFBP1 (V139I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839495	NM_002317.7(LOX):c.1169A>C (p.Asp390Ala)	LOX, SRFBP1 (D390A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830603	NM_002317.7(LOX):c.260C>G (p.Pro87Arg)	SRFBP1, LOX (P87R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829418	NM_002317.7(LOX):c.734T>A (p.Leu245Gln)	SRFBP1, LOX (L245Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2829406	NM_002317.7(LOX):c.375C>G (p.Phe125Leu)	SRFBP1, LOX (F125L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825947	NM_002317.7(LOX):c.1151A>T (p.Tyr384Phe)	LOX, SRFBP1 (Y384F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822663	NM_002317.7(LOX):c.778A>G (p.Arg260Gly)	LOX, SRFBP1 (R260G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2821221	NM_002317.7(LOX):c.96G>T (p.Pro32=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816479	NM_002317.7(LOX):c.40C>T (p.Gln14Ter)	LOX, SRFBP1 (Q14*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2815491	NM_002317.7(LOX):c.878+14C>T	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814911	NM_002317.7(LOX):c.1035+9G>T	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808787	NM_002317.7(LOX):c.461T>C (p.Leu154Pro)	LOX, SRFBP1 (L154P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808775	NM_002317.7(LOX):c.878+11G>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807552	NM_002317.7(LOX):c.788T>C (p.Leu263Pro)	LOX, SRFBP1 (L33P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2807433	NM_002317.7(LOX):c.981C>G (p.Asp327Glu)	LOX, SRFBP1 (D97E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805905	NM_002317.7(LOX):c.1150T>C (p.Tyr384His)	LOX, SRFBP1 (Y384H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804687	NM_002317.7(LOX):c.455C>A (p.Pro152His)	LOX, SRFBP1 (P152H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803796	NM_002317.7(LOX):c.156G>A (p.Gly52=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801037	NM_002317.7(LOX):c.1132-18A>G	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797817	NM_002317.7(LOX):c.14G>C (p.Trp5Ser)	LOX, SRFBP1 (W5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795900	NM_002317.7(LOX):c.777C>G (p.His259Gln)	LOX, SRFBP1 (H259Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2795810	NM_002317.7(LOX):c.766G>C (p.Asp256His)	SRFBP1, LOX (D256H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2795565	NM_002317.7(LOX):c.565A>G (p.Thr189Ala)	LOX, SRFBP1 (T189A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788577	NM_002317.7(LOX):c.875A>T (p.His292Leu)	LOX, SRFBP1 (H292L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2787109	NM_002317.7(LOX):c.590G>T (p.Gly197Val)	LOX, SRFBP1 (G197V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784993	NM_002317.7(LOX):c.681C>T (p.Tyr227=)	LOX, SRFBP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign

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