"PreventionGenetics, part of Exact Sciences"[submitter] AND "BBS10"[ge - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1487271	NM_024685.4(BBS10):c.2146A>C (p.Asn716His)	BBS10 (N716H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 700499	NM_024685.4(BBS10):c.2142T>G (p.Val714=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder +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 2034841	NM_024685.4(BBS10):c.1989T>C (p.His663=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder +1 more	GLikely benign
Select item 704965	NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)	BBS10 (I659L)	Single nucleotide variant (missense variant)	BBS10-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1421598	NM_024685.4(BBS10):c.1970C>T (p.Thr657Ile)	BBS10 (T657I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 968614	NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala)	BBS10 (T657A)	Single nucleotide variant (missense variant)	BBS10-related disorder +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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1157334	NM_024685.4(BBS10):c.1866T>C (p.His622=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder +1 more	GLikely benign
Select item 965329	NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)	BBS10 (Y613H)	Single nucleotide variant (missense variant)	BBS10-related disorder +2 more	GUncertain significance
Select item 862004	NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu)	BBS10 (P581L)	Single nucleotide variant (missense variant)	BBS10-related disorder +2 more	GUncertain significance
Select item 35751	NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)	BBS10 (K579R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 971057	NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr)	BBS10 (I567T)	Single nucleotide variant (missense variant)	BBS10-related disorder +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 +2 more	GUncertain significance
Select item 990675	NM_024685.4(BBS10):c.1684T>C (p.Leu562=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +2 more	GLikely benign
Select item 850860	NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys)	BBS10 (E560K)	Single nucleotide variant (missense variant)	BBS10-related disorder +2 more	GUncertain significance
Select item 1138954	NM_024685.4(BBS10):c.1677C>T (p.Tyr559=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 496471	NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)	BBS10	Deletion (nonsense)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 417949	NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)	BBS10 (Y559*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10 +4 more	GPathogenic
Select item 261755	NM_024685.4(BBS10):c.1669A>G (p.Ile557Val)	BBS10 (I557V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 166720	NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser)	BBS10 (N544S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +3 more	GBenign/Likely benign
Select item 696368	NM_024685.4(BBS10):c.1629C>T (p.Asn543=)	BBS10	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 166721	NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)	BBS10 (P539L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +3 more	GConflicting classifications of pathogenicity
Select item 188992	NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)	BBS10 (T534fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +2 more	GPathogenic/Likely pathogenic
Select item 947855	NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys)	BBS10 (R532K)	Single nucleotide variant (missense variant)	BBS10-related disorder +3 more	GUncertain significance
Select item 697194	NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)	BBS10 (R530S)	Single nucleotide variant (missense variant)	BBS10-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 757659	NM_024685.4(BBS10):c.1572A>G (p.Thr524=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder +1 more	GLikely benign
Select item 698743	NM_024685.4(BBS10):c.1548A>T (p.Thr516=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 261754	NM_024685.4(BBS10):c.1545T>C (p.Asp515=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +2 more	GBenign
Select item 2179489	NM_024685.4(BBS10):c.1522A>G (p.Thr508Ala)	BBS10 (T508A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1383469	NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu)	BBS10 (P505L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1058632	NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg)	BBS10 (K488R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 700667	NM_024685.4(BBS10):c.1437A>G (p.Ala479=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 499947	NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)	BBS10 (A479E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 531826	NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile)	BBS10 (L445I)	Single nucleotide variant (missense variant)	BBS10-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 406220	NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu)	BBS10 (K426E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 698876	NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)	BBS10 (R422Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 166722	NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)	BBS10 (R422W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +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 188943	NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)	BBS10 (L414S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +2 more	GPathogenic/Likely pathogenic
Select item 261753	NM_024685.4(BBS10):c.1215T>G (p.Gly405=)	BBS10	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1907267	NM_024685.4(BBS10):c.1192G>A (p.Val398Ile)	BBS10 (V398I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1723353	NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)	BBS10 (I397V)	Single nucleotide variant (missense variant)	BBS10-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 966463	NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp)	BBS10 (G385D)	Single nucleotide variant (missense variant)	BBS10-related disorder +2 more	GUncertain significance
Select item 3031877	NM_024685.4(BBS10):c.1142A>G (p.Tyr381Cys)	BBS10 (Y381C)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 2636441	NM_024685.4(BBS10):c.1140A>G (p.Arg380=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder	GUncertain significance
Select item 2633688	NM_024685.4(BBS10):c.1140A>T (p.Arg380Ser)	BBS10 (R380S)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 1079967	NM_024685.4(BBS10):c.1134C>T (p.Ser378=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2629229	NM_024685.4(BBS10):c.1101G>C (p.Leu367Phe)	BBS10 (L367F)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
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 699053	NM_024685.4(BBS10):c.1074G>A (p.Ser358=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 696297	NM_024685.4(BBS10):c.1050A>G (p.Pro350=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder +2 more	GLikely benign
Select item 695510	NM_024685.4(BBS10):c.1041T>C (p.Gly347=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder +1 more	GLikely benign
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 261758	NM_024685.4(BBS10):c.966T>C (p.Tyr322=)	BBS10	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 432013	NM_024685.4(BBS10):c.909_912del (p.Ser303fs)	BBS10 (S303fs)	Deletion (frameshift variant)	BBS10-related disorder +3 more	GPathogenic
Select item 658119	NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)	BBS10 (A296T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 235677	NM_024685.4(BBS10):c.765G>A (p.Met255Ile)	BBS10 (M255I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GConflicting classifications of pathogenicity
Select item 571548	NM_024685.4(BBS10):c.752C>T (p.Ala251Val)	BBS10 (A251V)	Single nucleotide variant (missense variant)	BBS10-related disorder +2 more	GUncertain significance
Select item 1930522	NM_024685.4(BBS10):c.687T>A (p.Pro229=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder +1 more	GLikely benign
Select item 216123	NM_024685.4(BBS10):c.687del (p.Val230fs)	BBS10 (V230fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +3 more	GPathogenic
Select item 703247	NM_024685.4(BBS10):c.637T>C (p.Leu213=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder +2 more	GLikely benign
Select item 1570213	NM_024685.4(BBS10):c.630A>T (p.Val210=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder +1 more	GLikely benign
Select item 754867	NM_024685.4(BBS10):c.607A>G (p.Thr203Ala)	BBS10 (T203A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1484730	NM_024685.4(BBS10):c.563A>T (p.Lys188Ile)	BBS10 (K188I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 287666	NM_024685.4(BBS10):c.483A>G (p.Lys161=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder +2 more	GConflicting classifications of pathogenicity
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 406223	NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)	BBS10 (Q147R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +2 more	GConflicting classifications of pathogenicity
Select item 701208	NM_024685.4(BBS10):c.429T>C (p.Gly143=)	BBS10	Single nucleotide variant (synonymous variant)	BBS10-related disorder +1 more	GLikely benign
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 1698267	NM_024685.4(BBS10):c.411G>T (p.Gln137His)	BBS10 (Q137H)	Single nucleotide variant (missense variant)	BBS10-related disorder +2 more	GUncertain significance
Select item 1451238	NM_024685.4(BBS10):c.409C>T (p.Gln137Ter)	BBS10 (Q137*)	Single nucleotide variant (nonsense)	BBS10-related disorder +1 more	GPathogenic
Select item 310496	NM_024685.4(BBS10):c.393G>A (p.Gln131=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +2 more	GConflicting classifications of pathogenicity
Select item 596902	NM_024685.4(BBS10):c.372T>A (p.Ser124=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +3 more	GConflicting classifications of pathogenicity
Select item 1328	NM_024685.4(BBS10):c.271dup (p.Cys91fs)	BBS10 (C91fs)	Duplication (frameshift variant)	Retinal dystrophy +6 more	GPathogenic
Select item 2201555	NM_024685.4(BBS10):c.199A>G (p.Met67Val)	BBS10 (M67V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1507595	NM_024685.4(BBS10):c.197+5C>T	BBS10	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1095277	NM_024685.4(BBS10):c.163C>T (p.Leu55=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 225010	NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	BBS10 (R49W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +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 disorder +2 more	GLikely benign
Select item 2629146	NM_024685.4(BBS10):c.85G>A (p.Val29Met)	BBS10 (V29M)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 261757	NM_024685.4(BBS10):c.63G>A (p.Leu21=)	BBS10	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 310499	NM_024685.4(BBS10):c.42G>A (p.Ala14=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2151556	NM_024685.4(BBS10):c.13A>G (p.Met5Val)	BBS10 (M5V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 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 disorder +2 more	GUncertain significance

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Items: 87