"GeneDx"[submitter] AND "SRFBP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59449	GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3	DMXL1, DMXL1-DT +84 more	Copy number gain	See cases	GUncertain significance
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 1270158	NM_002317.7(LOX):c.*154A>G	LOX, SRFBP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1277270	NM_002317.7(LOX):c.1248-153G>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219199	NM_002317.7(LOX):c.1248-327C>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313512	NM_002317.7(LOX):c.1247C>T (p.Pro416Leu)	LOX, SRFBP1 (P119L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215724	NM_002317.7(LOX):c.1232G>A (p.Gly411Asp)	LOX, SRFBP1 (G114D +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +1 more	GUncertain significance
Select item 1708582	NM_002317.7(LOX):c.1225G>A (p.Ala409Thr)	LOX, SRFBP1 (A112T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992745	NM_002317.7(LOX):c.1221_1222dup (p.Tyr408fs)	LOX, SRFBP1 (Y178fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 547513	NM_002317.7(LOX):c.1222T>C (p.Tyr408His)	LOX, SRFBP1 (Y408H +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 2575661	NM_002317.7(LOX):c.1202G>A (p.Arg401His)	LOX, SRFBP1 (R104H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434346	NM_002317.7(LOX):c.1190G>A (p.Arg397His)	LOX, SRFBP1 (R167H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +2 more	GUncertain significance
Select item 1215447	NM_002317.7(LOX):c.1189C>T (p.Arg397Cys)	LOX, SRFBP1 (R100C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1801043	NM_002317.7(LOX):c.1186G>A (p.Val396Met)	LOX, SRFBP1 (V166M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369694	NM_002317.7(LOX):c.1135A>G (p.Ser379Gly)	LOX, SRFBP1 (S149G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331281	NM_002317.7(LOX):c.1132-10T>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1249178	NM_002317.7(LOX):c.1131+110dup	LOX, SRFBP1	Duplication (intron variant)	not provided	GBenign
Select item 424133	NM_002317.7(LOX):c.1131+1_1131+6del	LOX, SRFBP1	Deletion (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1712227	NM_002317.7(LOX):c.1123A>C (p.Ile375Leu)	SRFBP1, LOX (I145L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205595	NM_002317.7(LOX):c.1062C>A (p.Thr354=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 617849	NM_002317.7(LOX):c.1044T>A (p.Ser348Arg)	LOX, SRFBP1 (S348R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1181166	NM_002317.7(LOX):c.1035+225T>C	SRFBP1, LOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489315	NM_002317.7(LOX):c.1035+1G>A	LOX, SRFBP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 974875	NM_002317.7(LOX):c.1009C>T (p.Arg337Ter)	LOX, SRFBP1 (R107* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2578251	NM_002317.7(LOX):c.929A>G (p.Asn310Ser)	LOX, SRFBP1 (N13S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 496155	NM_002317.7(LOX):c.918G>A (p.Leu306=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 932394	NM_002317.7(LOX):c.916C>T (p.Leu306=)	SRFBP1, LOX	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1306153	NM_002317.7(LOX):c.880C>T (p.His294Tyr)	LOX, SRFBP1 (H294Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2451968	NM_002317.7(LOX):c.844C>G (p.Pro282Ala)	LOX, SRFBP1 (P52A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 986141	NM_002317.7(LOX):c.842G>C (p.Arg281Pro)	LOX, SRFBP1 (R281P +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1343849	NM_002317.7(LOX):c.840C>A (p.Ser280Arg)	LOX, SRFBP1 (S280R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2578210	NM_002317.7(LOX):c.826G>C (p.Asp276His)	LOX, SRFBP1 (D276H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1762588	NM_002317.7(LOX):c.823T>A (p.Ser275Thr)	LOX, SRFBP1 (S275T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1217537	NM_002317.7(LOX):c.807G>A (p.Val269=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2576860	NM_002317.7(LOX):c.772G>A (p.Asp258Asn)	LOX, SRFBP1 (D258N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1517637	NM_002317.7(LOX):c.769T>C (p.Tyr257His)	LOX, SRFBP1 (Y257H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 996536	NM_002317.7(LOX):c.749A>G (p.Tyr250Cys)	LOX, SRFBP1 (Y20C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 617848	NM_002317.7(LOX):c.743C>T (p.Thr248Ile)	LOX, SRFBP1 (T248I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 684466	NM_002317.7(LOX):c.741T>G (p.Ser247Arg)	LOX, SRFBP1 (S247R +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1199913	NM_002317.7(LOX):c.741-23T>C	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273206	NM_002317.7(LOX):c.740+175del	LOX, SRFBP1	Deletion (intron variant)	not provided	GBenign
Select item 496154	NM_002317.7(LOX):c.740+6G>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1339852	NM_002317.7(LOX):c.732_735del (p.Cys244fs)	LOX, SRFBP1 (C14fs +1 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3371846	NM_002317.7(LOX):c.727A>G (p.Asn243Asp)	LOX, SRFBP1 (N13D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366270	NM_002317.7(LOX):c.723G>C (p.Glu241Asp)	LOX, SRFBP1 (E11D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1310026	NM_002317.7(LOX):c.697A>G (p.Met233Val)	LOX, SRFBP1 (M233V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1194326	NM_002317.7(LOX):c.696C>T (p.Ser232=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1312161	NM_002317.7(LOX):c.668A>G (p.Gln223Arg)	LOX, SRFBP1 (Q223R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1288647	NM_002317.7(LOX):c.631+160G>C	LOX, SRFBP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 496153	NM_002317.7(LOX):c.631+10C>T	LOX, SRFBP1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 988499	NM_002317.7(LOX):c.625del (p.Gln209fs)	LOX, SRFBP1 (Q209fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 973085	NM_002317.7(LOX):c.545C>G (p.Pro182Arg)	SRFBP1, LOX (P182R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 496152	NM_002317.7(LOX):c.534T>C (p.Ser178=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1343025	NM_002317.7(LOX):c.524A>G (p.Tyr175Cys)	LOX, SRFBP1 (Y175C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307429	NM_002317.7(LOX):c.493G>C (p.Gly165Arg)	LOX, SRFBP1 (G165R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2579634	NM_002317.7(LOX):c.491A>T (p.Asp164Val)	LOX, SRFBP1 (D164V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310179	NM_002317.7(LOX):c.484C>T (p.Arg162Cys)	LOX, SRFBP1 (R162C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 445585	NM_002317.7(LOX):c.476C>A (p.Pro159Gln)	LOX, SRFBP1 (P159Q)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +2 more	GBenign/Likely benign
Select item 1194695	NM_002317.7(LOX):c.474G>A (p.Arg158=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 14363	NM_002317.7(LOX):c.473G>A (p.Arg158Gln)	LOX, SRFBP1 (R158Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign
Select item 617850	NM_002317.7(LOX):c.460C>T (p.Leu154Phe)	LOX, SRFBP1 (L154F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 496151	NM_002317.7(LOX):c.395C>T (p.Ser132Phe)	LOX, SRFBP1 (S132F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1202935	NM_002317.7(LOX):c.383G>A (p.Gly128Asp)	SRFBP1, LOX (G128D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327897	NM_002317.7(LOX):c.382G>A (p.Gly128Ser)	LOX, SRFBP1 (G128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215073	NM_002317.7(LOX):c.364C>T (p.Arg122Cys)	LOX, SRFBP1 (R122C)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +1 more	GUncertain significance
Select item 1310281	NM_002317.7(LOX):c.340_341delinsTA (p.Ala114Tyr)	LOX, SRFBP1 (A114Y)	Indel (missense variant)	not provided	GUncertain significance
Select item 1302490	NM_002317.7(LOX):c.338C>T (p.Thr113Ile)	LOX, SRFBP1 (T113I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314347	NM_002317.7(LOX):c.332G>T (p.Gly111Val)	LOX, SRFBP1 (G111V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736277	NM_002317.7(LOX):c.322G>A (p.Gly108Ser)	LOX, SRFBP1 (G108S)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +2 more	GLikely benign
Select item 723122	NM_002317.7(LOX):c.308G>C (p.Arg103Pro)	LOX, SRFBP1 (R103P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1254823	NM_002317.7(LOX):c.298G>C (p.Ala100Pro)	LOX, SRFBP1 (A100P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1430626	NM_002317.7(LOX):c.295A>G (p.Thr99Ala)	LOX, SRFBP1 (T99A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1356042	NM_002317.7(LOX):c.292C>T (p.Arg98Cys)	LOX, SRFBP1 (R98C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306458	NM_002317.7(LOX):c.263G>A (p.Arg88His)	LOX, SRFBP1 (R88H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1300350	NM_002317.7(LOX):c.249C>T (p.Ser83=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1397047	NM_002317.7(LOX):c.241A>G (p.Asn81Asp)	LOX, SRFBP1 (N81D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575817	NM_002317.7(LOX):c.226_240del (p.Val76_Ala80del)	LOX, SRFBP1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 521345	NM_002317.7(LOX):c.235G>A (p.Ala79Thr)	LOX, SRFBP1 (A79T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 496150	NM_002317.7(LOX):c.225C>G (p.Ala75=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 10 +3 more	GBenign
Select item 1220523	NM_002317.7(LOX):c.219C>A (p.Gly73=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1209132	NM_002317.7(LOX):c.216G>A (p.Pro72=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 785135	NM_002317.7(LOX):c.204C>T (p.Arg68=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1311399	NM_002317.7(LOX):c.194A>G (p.Gln65Arg)	LOX, SRFBP1 (Q65R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571771	NM_002317.7(LOX):c.168C>G (p.Ser56Arg)	SRFBP1, LOX (S56R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579623	NM_002317.7(LOX):c.154G>C (p.Gly52Arg)	LOX, SRFBP1 (G52R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 521855	NM_002317.7(LOX):c.153C>A (p.Asn51Lys)	LOX, SRFBP1 (N51K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305125	NM_002317.7(LOX):c.150C>G (p.Asn50Lys)	LOX, SRFBP1 (N50K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306022	NM_002317.7(LOX):c.124_130dup (p.Gln44fs)	LOX, SRFBP1 (Q44fs)	Duplication (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 2682901	NM_002317.7(LOX):c.126G>C (p.Trp42Cys)	LOX, SRFBP1 (W42C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314209	NM_002317.7(LOX):c.112G>T (p.Ala38Ser)	LOX, SRFBP1 (A38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306505	NM_002317.7(LOX):c.104C>T (p.Pro35Leu)	LOX, SRFBP1 (P35L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301478	NM_002317.7(LOX):c.104C>A (p.Pro35Gln)	LOX, SRFBP1 (P35Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1678849	NM_002317.7(LOX):c.95C>T (p.Pro32Leu)	LOX, SRFBP1 (P32L)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1306990	NM_002317.7(LOX):c.95C>A (p.Pro32Gln)	SRFBP1, LOX (P32Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710598	NM_002317.7(LOX):c.53T>C (p.Leu18Pro)	SRFBP1, LOX (L18P)	Single nucleotide variant (missense variant)	not provided	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 1188568	NM_002317.7(LOX):c.31G>C (p.Gly11Arg)	LOX, SRFBP1 (G11R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 715873	NM_002317.7(LOX):c.30C>T (p.Leu10=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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