C3889474[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1470091	NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro)	SDCCAG8 (S8P)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1513320	NM_006642.5(SDCCAG8):c.48G>T (p.Gln16His)	SDCCAG8 (Q16H)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1564756	NM_006642.5(SDCCAG8):c.67+20T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1179068	NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs)	SDCCAG8 (A35fs)	Deletion (5 prime UTR variant +1 more)	SDCCAG8-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1466454	NM_006642.5(SDCCAG8):c.115G>A (p.Gly39Ser)	SDCCAG8 (G39S)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 705496	NM_006642.5(SDCCAG8):c.180C>T (p.Asp60=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 641196	NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser)	SDCCAG8 (A61S)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1112802	NM_006642.5(SDCCAG8):c.220+20C>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 704141	NM_006642.5(SDCCAG8):c.221-4A>G	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 392659	NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys)	SDCCAG8 (R82C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 296906	NM_006642.5(SDCCAG8):c.306+11A>G	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GConflicting classifications of pathogenicity
Select item 957571	NM_006642.5(SDCCAG8):c.349G>A (p.Asp117Asn)	SDCCAG8 (D117N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1337588	NM_006642.5(SDCCAG8):c.415T>C (p.Cys139Arg)	SDCCAG8 (C139R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GUncertain significance
Select item 1541850	NM_006642.5(SDCCAG8):c.421-16G>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 541793	NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro)	SDCCAG8 (L173P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 875520	NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val)	SDCCAG8 (A83V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 296908	NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)	SDCCAG8 (T191I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +2 more	GConflicting classifications of pathogenicity
Select item 1113090	NM_006642.5(SDCCAG8):c.597C>T (p.Gly199=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +2 more	GLikely benign
Select item 1499862	NM_006642.5(SDCCAG8):c.695A>C (p.Tyr232Ser)	SDCCAG8 (Y134S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 846611	NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)	SDCCAG8 (Y264* +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1417366	NM_006642.5(SDCCAG8):c.718G>A (p.Glu240Lys)	SDCCAG8 (E142K +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1087722	NM_006642.5(SDCCAG8):c.729G>A (p.Leu243=)	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1096950	NM_006642.5(SDCCAG8):c.740+14G>A	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 60	NM_006642.5(SDCCAG8):c.740+356C>T	SDCCAG8	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1416008	NM_006642.5(SDCCAG8):c.749T>C (p.Leu250Ser)	SDCCAG8 (L282S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1070303	NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter)	SDCCAG8 (E164* +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 1042937	NM_006642.5(SDCCAG8):c.784G>C (p.Glu262Gln)	SDCCAG8 (E262Q +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1488083	NM_006642.5(SDCCAG8):c.832C>T (p.Arg278Cys)	SDCCAG8 (R278C +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +2 more	GUncertain significance
Select item 850817	NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His)	SDCCAG8 (R180H +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 955345	NM_006642.5(SDCCAG8):c.842G>A (p.Gly281Asp)	SDCCAG8 (G281D +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1087540	NM_006642.5(SDCCAG8):c.915C>T (p.Ile305=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +2 more	GLikely benign
Select item 944250	NM_006642.5(SDCCAG8):c.918A>C (p.Glu306Asp)	SDCCAG8 (E5D +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1086074	NM_006642.5(SDCCAG8):c.929+17G>A	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1167182	NM_006642.5(SDCCAG8):c.929+18C>T	SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GBenign/Likely benign
Select item 951714	NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser)	SDCCAG8 (L217S +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 847765	NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr)	SDCCAG8 (M348T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 964740	NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys)	SDCCAG8 (R22K +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1079593	NM_006642.5(SDCCAG8):c.987G>A (p.Thr329=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1130771	NM_006642.5(SDCCAG8):c.996A>G (p.Arg332=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1389486	NM_006642.5(SDCCAG8):c.1022A>C (p.Lys341Thr)	SDCCAG8 (K243T +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1023049	NM_006642.5(SDCCAG8):c.1099G>A (p.Glu367Lys)	SDCCAG8 (E269K +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +2 more	GUncertain significance
Select item 1042069	NM_006642.5(SDCCAG8):c.1115C>T (p.Ala372Val)	SDCCAG8 (A274V +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1367848	NM_006642.5(SDCCAG8):c.1123C>A (p.Leu375Ile)	SDCCAG8 (L277I +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1071556	NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)	SDCCAG8 (Q285* +3 more)	Single nucleotide variant (nonsense)	Senior-Loken syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 960920	NM_006642.5(SDCCAG8):c.1163T>A (p.Ile388Asn)	SDCCAG8 (I290N +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 864085	NM_006642.5(SDCCAG8):c.1175T>C (p.Met392Thr)	SDCCAG8 (M294T +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1436843	NM_006642.5(SDCCAG8):c.1210A>G (p.Met404Val)	SDCCAG8 (M306V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 834136	NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile)	SDCCAG8 (V425I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 392846	NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala)	SDCCAG8 (T426A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1439652	NM_006642.5(SDCCAG8):c.1279A>C (p.Lys427Gln)	SDCCAG8 (K329Q +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1415176	NM_006642.5(SDCCAG8):c.1297A>G (p.Ile433Val)	SDCCAG8 (I132V +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 598470	NM_006642.5(SDCCAG8):c.1337G>A (p.Arg446Gln)	SDCCAG8 (R446Q +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +2 more	GUncertain significance
Select item 1519606	NM_006642.5(SDCCAG8):c.1343T>C (p.Met448Thr)	SDCCAG8 (M350T +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1507559	NM_006642.5(SDCCAG8):c.1373G>A (p.Arg458His)	SDCCAG8 (R157H +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +2 more	GUncertain significance
Select item 57	NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)	SDCCAG8 (E506fs +3 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 857829	NM_006642.5(SDCCAG8):c.1427G>A (p.Arg476Lys)	SDCCAG8 (R476K +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1351940	NM_006642.5(SDCCAG8):c.1488G>T (p.Leu496Phe)	SDCCAG8 (L398F +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +2 more	GUncertain significance
Select item 735900	NM_006642.5(SDCCAG8):c.1503T>C (p.Asp501=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 838283	NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu)	SDCCAG8 (Q407E +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 873717	NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)	SDCCAG8 (E434K +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1545384	NM_006642.5(SDCCAG8):c.1617-5T>C	SDCCAG8	Single nucleotide variant (intron variant)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1059128	NM_006642.5(SDCCAG8):c.1642A>C (p.Ser548Arg)	SDCCAG8 (S247R +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1428312	NM_006642.5(SDCCAG8):c.1643G>C (p.Ser548Thr)	SDCCAG8 (S548T +3 more)	Single nucleotide variant (missense variant)	SDCCAG8-related disorder +2 more	GUncertain significance
Select item 873718	NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln)	SDCCAG8 (E263Q +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 971276	NM_006642.5(SDCCAG8):c.1727C>T (p.Ala576Val)	SDCCAG8 (A275V +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 649190	NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro)	SDCCAG8 (Q276P +3 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 16 +1 more	GUncertain significance
Select item 1052788	NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys)	SDCCAG8 (E283K +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 703352	NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 7 +2 more	GBenign/Likely benign
Select item 634489	NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)	SDCCAG8 (F595V +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1361500	NM_006642.5(SDCCAG8):c.1913T>C (p.Leu638Ser)	SDCCAG8 (L540S +3 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 7 +2 more	GUncertain significance
Select item 1615124	NM_006642.5(SDCCAG8):c.1935G>A (p.Leu645=)	SDCCAG8	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign
Select item 1631636	NM_006642.5(SDCCAG8):c.2004G>A (p.Lys668=)	AKT3, SDCCAG8	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 7 +1 more	GLikely benign
Select item 1056755	NM_006642.5(SDCCAG8):c.2098C>T (p.Arg700Trp)	AKT3, SDCCAG8 (R399W +3 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 7 +1 more	GUncertain significance
Select item 1141592	NM_006642.5(SDCCAG8):c.2112+17G>A	AKT3, SDCCAG8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 16 +1 more	GLikely benign

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Items: 74