C1859568[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 700499	NM_024685.4(BBS10):c.2142T>G (p.Val714=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related condition +2 more	GLikely benign
Select item 1053917	NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser)	BBS10 (N668S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 968614	NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala)	BBS10 (T657A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1136956	NM_024685.4(BBS10):c.1923C>T (p.Pro641=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1494948	NM_024685.4(BBS10):c.1882A>G (p.Met628Val)	BBS10 (M628V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 990674	NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg)	BBS10 (K619R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 965329	NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)	BBS10 (Y613H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1015521	NM_024685.4(BBS10):c.1780A>G (p.Met594Val)	BBS10 (M594V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +1 more	GUncertain significance
Select item 862004	NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu)	BBS10 (P581L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +2 more	GUncertain significance
Select item 1451034	NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser)	BBS10 (P581S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1520499	NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp)	BBS10 (N566D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +2 more	GUncertain significance
Select item 1515337	NM_024685.4(BBS10):c.1696A>C (p.Asn566His)	BBS10 (N566H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +1 more	GUncertain significance
Select item 990675	NM_024685.4(BBS10):c.1684T>C (p.Leu562=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 850860	NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys)	BBS10 (E560K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +2 more	GUncertain significance
Select item 625446	NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)	BBS10 (Y559*)	Duplication (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 417949	NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)	BBS10 (Y559*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +4 more	GPathogenic
Select item 1383469	NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu)	BBS10 (P505L)	Single nucleotide variant (missense variant)	BBS10-related condition +2 more	GUncertain significance
Select item 575861	NM_024685.4(BBS10):c.1490A>T (p.Asp497Val)	BBS10 (D497V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +1 more	GUncertain significance
Select item 499947	NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)	BBS10 (A479E)	Single nucleotide variant (missense variant)	BBS10-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1381653	NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser)	BBS10 (N476S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 434484	NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser)	BBS10 (G461S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +2 more	GUncertain significance
Select item 704355	NM_024685.4(BBS10):c.1287T>C (p.Asp429=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +1 more	GLikely benign
Select item 166722	NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)	BBS10 (R422W)	Single nucleotide variant (missense variant)	BBS10-related condition +3 more	GUncertain significance
Select item 35750	NM_024685.4(BBS10):c.1245T>C (p.His415=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +2 more	GBenign/Likely benign
Select item 558108	NM_024685.4(BBS10):c.1244del (p.His415fs)	BBS10 (H415fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic
Select item 188943	NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)	BBS10 (L414S)	Single nucleotide variant (missense variant)	BBS10-related condition +2 more	GPathogenic/Likely pathogenic
Select item 585177	NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter)	BBS10 (Y381*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 556154	NM_024685.4(BBS10):c.1122dup (p.Ile375fs)	BBS10 (I375fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 166723	NM_024685.4(BBS10):c.1091del (p.Asn364fs)	BBS10 (N364fs)	Deletion	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1423758	NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu)	BBS10 (Q359E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 434485	NM_024685.4(BBS10):c.1074G>T (p.Ser358=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +2 more	GLikely benign
Select item 696297	NM_024685.4(BBS10):c.1050A>G (p.Pro350=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +2 more	GLikely benign
Select item 30817	NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)	BBS10 (P350fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 310493	NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln)	BBS10 (R343Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 554851	NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter)	BBS10 (L334*)	Insertion (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 697012	NM_024685.4(BBS10):c.957T>C (p.Val319=)	BBS10	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 953454	NM_024685.4(BBS10):c.934A>G (p.Ser312Gly)	BBS10 (S312G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +1 more	GUncertain significance
Select item 432013	NM_024685.4(BBS10):c.909_912del (p.Ser303fs)	BBS10 (S303fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +3 more	GPathogenic
Select item 698932	NM_024685.4(BBS10):c.861A>G (p.Gln287=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 551120	NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)	BBS10 (Q284*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 858466	NM_024685.4(BBS10):c.815G>C (p.Gly272Ala)	BBS10 (G272A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +1 more	GUncertain significance
Select item 571548	NM_024685.4(BBS10):c.752C>T (p.Ala251Val)	BBS10 (A251V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 189071	NM_024685.4(BBS10):c.728_731del (p.Lys243fs)	BBS10 (K243fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 216123	NM_024685.4(BBS10):c.687del (p.Val230fs)	BBS10 (V230fs)	Deletion (frameshift variant)	BBS10-related condition +3 more	GPathogenic
Select item 1528726	NM_024685.4(BBS10):c.648C>T (p.Asp216=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 703247	NM_024685.4(BBS10):c.637T>C (p.Leu213=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related condition +2 more	GLikely benign
Select item 956783	NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del)	BBS10 (Y197del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 438154	NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)	BBS10 (Y197C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 970753	NM_024685.4(BBS10):c.583T>G (p.Cys195Gly)	BBS10 (C195G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 880901	NM_024685.4(BBS10):c.559C>A (p.His187Asn)	BBS10 (H187N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 216124	NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)	BBS10 (Y177*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 261756	NM_024685.4(BBS10):c.474G>T (p.Ser158=)	BBS10	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 661491	NM_024685.4(BBS10):c.445dup (p.Leu149fs)	BBS10 (L149fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 35752	NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)	BBS10 (D142N)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1129113	NM_024685.4(BBS10):c.402A>G (p.Leu134=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 30818	NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)	BBS10 (C91W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1328	NM_024685.4(BBS10):c.271dup (p.Cys91fs)	BBS10 (C91fs)	Duplication (frameshift variant)	Inborn genetic diseases +6 more	GPathogenic
Select item 1595736	NM_024685.4(BBS10):c.197+13C>G	BBS10	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 283884	NM_024685.4(BBS10):c.197+1G>T	BBS10	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 522272	NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)	BBS10 (L55P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 225010	NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	BBS10 (R49W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +10 more	GPathogenic/Likely pathogenic
Select item 701364	NM_024685.4(BBS10):c.102G>T (p.Arg34=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related condition +2 more	GLikely benign
Select item 1336406	NM_024685.4(BBS10):c.85G>T (p.Val29Leu)	BBS10 (V29L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1457055	NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)	BBS10 (C28*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1099604	NM_024685.4(BBS10):c.27G>T (p.Gly9=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1179122	NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)	BBS10 (S3fs)	Indel (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1156416	NM_024685.4(BBS10):c.6A>G (p.Leu2=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 502118	NM_024685.4(BBS10):c.2T>C (p.Met1Thr)	BBS10 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1515437	NM_024685.4(BBS10):c.1A>G (p.Met1Val)	BBS10 (M1V)	Single nucleotide variant (missense variant +1 more)	BBS10-related condition +2 more	GUncertain significance

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Items: 69