C4225281[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1487151	NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp)	BBS2 (R699W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GUncertain significance
Select item 1128119	NM_031885.5(BBS2):c.2059+12_2059+13del	BBS2	Deletion (intron variant)	Bardet-Biedl syndrome 2 +2 more	GLikely benign
Select item 956721	NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp)	BBS2 (R686W)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +3 more	GUncertain significance
Select item 943913	NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)	BBS2 (N663*)	Duplication (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1195902	NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys)	BBS2 (Y658C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GUncertain significance
Select item 553014	NM_031885.5(BBS2):c.1928G>A (p.Arg643His)	BBS2 (R643H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GUncertain significance
Select item 858439	NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)	BBS2 (R643C)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +4 more	GUncertain significance
Select item 1019357	NM_031885.5(BBS2):c.1909A>T (p.Met637Leu)	BBS2 (M637L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GUncertain significance
Select item 888430	NM_031885.5(BBS2):c.1895G>A (p.Arg632His)	BBS2 (R632H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 4578	NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	BBS2 (R632P)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +7 more	GPathogenic
Select item 319852	NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys)	BBS2 (R632C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GUncertain significance
Select item 550939	NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr)	BBS2 (A631T)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +3 more	GUncertain significance
Select item 1015292	NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg)	BBS2 (G627R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 284737	NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)	BBS2 (R622*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1574194	NM_031885.5(BBS2):c.1845T>C (p.Ala615=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 553335	NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)	BBS2 (S605*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 965647	NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys)	BBS2 (Y603C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1560386	NM_031885.5(BBS2):c.1797+13G>A	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 550489	NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)	BBS2 (R594*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 1497114	NM_031885.5(BBS2):c.1713G>A (p.Met571Ile)	BBS2 (M571I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1076595	NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs)	BBS2 (L550fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 843618	NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)	BBS2 (G542C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1158343	NM_031885.5(BBS2):c.1623C>T (p.Gly541=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1007760	NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp)	BBS2 (R539W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +3 more	GUncertain significance
Select item 842436	NM_031885.5(BBS2):c.1555C>G (p.Leu519Val)	BBS2 (L519V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1519024	NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys)	BBS2 (G515C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 836536	NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)	BBS2 (G515S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 1116418	NM_031885.5(BBS2):c.1530T>G (p.Val510=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1568366	NM_031885.5(BBS2):c.1528-15G>T	BBS2	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 972444	NM_031885.5(BBS2):c.1527+5G>C	BBS2	Single nucleotide variant (intron variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 948185	NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp)	BBS2 (R506W)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +2 more	GUncertain significance
Select item 1512135	NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln)	BBS2 (R480Q)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +2 more	GUncertain significance
Select item 1132265	NM_031885.5(BBS2):c.1413A>G (p.Val471=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GLikely benign
Select item 96206	NM_031885.5(BBS2):c.1413A>C (p.Val471=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 74 +4 more	GBenign/Likely benign
Select item 1053461	NM_031885.5(BBS2):c.1381G>A (p.Val461Met)	BBS2 (V461M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GUncertain significance
Select item 1053873	NM_031885.5(BBS2):c.1333A>G (p.Ile445Val)	BBS2 (I445V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 370943	NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	BBS2 (R413*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +5 more	GPathogenic/Likely pathogenic
Select item 937791	NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser)	BBS2 (N408S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +3 more	GUncertain significance
Select item 842164	NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe)	BBS2 (S407F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +3 more	GUncertain significance
Select item 1384724	NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu)	BBS2 (R403L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1384369	NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile)	BBS2 (T397I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +2 more	GUncertain significance
Select item 193748	NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser)	BBS2 (T397S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 966180	NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)	BBS2 (T386M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1042939	NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser)	BBS2 (N380S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 591232	NM_031885.5(BBS2):c.1123G>C (p.Gly375Arg)	BBS2 (G375R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +1 more	GUncertain significance
Select item 949257	NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp)	BBS2 (R374W)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +3 more	GUncertain significance
Select item 166731	NM_031885.5(BBS2):c.1110T>C (p.Ala370=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 496477	NM_031885.5(BBS2):c.1081-18G>T	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +3 more	GBenign/Likely benign
Select item 1598557	NM_031885.5(BBS2):c.1080+14C>T	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GBenign/Likely benign
Select item 550007	NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp)	BBS2 (L349W)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +2 more	GUncertain significance
Select item 625449	NM_031885.5(BBS2):c.986T>C (p.Met329Thr)	BBS2 (M329T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +3 more	GUncertain significance
Select item 1383190	NM_031885.5(BBS2):c.974G>A (p.Arg325Lys)	BBS2 (R325K)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 968281	NM_031885.5(BBS2):c.962C>T (p.Thr321Met)	BBS2 (T321M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1139300	NM_031885.5(BBS2):c.941-6G>A	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 1153892	NM_031885.5(BBS2):c.941-8C>G	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 2 +2 more	GLikely benign
Select item 1565865	NM_031885.5(BBS2):c.941-11C>T	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 1391874	NM_031885.5(BBS2):c.941-20G>A	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 4572	NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	BBS2 (R275*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +5 more	GPathogenic/Likely pathogenic
Select item 552219	NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)	BBS2 (R272*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +4 more	GPathogenic
Select item 1570394	NM_031885.5(BBS2):c.810T>C (p.Asp270=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 854709	NM_031885.5(BBS2):c.774del (p.Asn258fs)	BBS2 (N258fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 887243	NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)	BBS2 (N242S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +4 more	GUncertain significance
Select item 1423857	NM_031885.5(BBS2):c.722A>C (p.Lys241Thr)	BBS2 (K241T)	Single nucleotide variant (missense variant +1 more)	BBS2-related disorder +3 more	GUncertain significance
Select item 554001	NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)	BBS2 (R234*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 74 +5 more	GConflicting classifications of pathogenicity
Select item 814000	NM_031885.5(BBS2):c.662T>C (p.Leu221Pro)	BBS2 (L221P)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +2 more	GUncertain significance
Select item 850744	NM_031885.5(BBS2):c.635T>C (p.Met212Thr)	BBS2 (M212T)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +3 more	GUncertain significance
Select item 1581963	NM_031885.5(BBS2):c.612+18G>A	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 1617303	NM_031885.5(BBS2):c.612+17C>T	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 1452464	NM_031885.5(BBS2):c.612+14C>G	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 35756	NM_031885.5(BBS2):c.612+12C>A	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +4 more	GBenign
Select item 552531	NM_031885.5(BBS2):c.563del (p.Ile188fs)	BBS2 (I188fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1543605	NM_031885.5(BBS2):c.534+20T>C	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 553927	NM_031885.5(BBS2):c.534+1G>T	BBS2	Single nucleotide variant (splice donor variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 1020804	NM_031885.5(BBS2):c.485A>G (p.Asn162Ser)	BBS2 (N162S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 4580	NM_031885.5(BBS2):c.472del	BBS2	Deletion (splice acceptor variant)	Retinitis pigmentosa 74 +2 more	GPathogenic/Likely pathogenic
Select item 1132717	NM_031885.5(BBS2):c.471+17A>G	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 2 +2 more	GLikely benign
Select item 965274	NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)	BBS2 (N141S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +3 more	GConflicting classifications of pathogenicity
Select item 633078	NM_031885.5(BBS2):c.402del (p.Ala136fs)	BBS2 (A136fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 695475	NM_031885.5(BBS2):c.382T>C (p.Leu128=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GLikely benign
Select item 1312070	NM_031885.5(BBS2):c.380C>G (p.Thr127Arg)	BBS2 (T127R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 555824	NM_031885.5(BBS2):c.365C>T (p.Ala122Val)	BBS2 (A122V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +1 more	GUncertain significance
Select item 410986	NM_031885.5(BBS2):c.358G>A (p.Ala120Thr)	BBS2 (A120T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 more	GUncertain significance
Select item 1537691	NM_031885.5(BBS2):c.342A>G (p.Arg114=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 554915	NM_031885.5(BBS2):c.334T>C (p.Phe112Leu)	BBS2 (F112L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1406160	NM_031885.5(BBS2):c.320A>G (p.Asn107Ser)	BBS2 (N107S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GUncertain significance
Select item 4577	NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	BBS2 (D104A)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +5 more	GPathogenic
Select item 1651952	NM_031885.5(BBS2):c.216C>T (p.Asn72=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 4571	NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)	BBS2 (Q59*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 74 +3 more	GPathogenic/Likely pathogenic
Select item 989966	NM_031885.5(BBS2):c.142C>T (p.Arg48Trp)	BBS2 (R48W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +1 more	GUncertain significance
Select item 1565088	NM_031885.5(BBS2):c.117+17G>T	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 2 +2 more	GLikely benign
Select item 1141547	NM_031885.5(BBS2):c.117+7G>A	BBS2	Single nucleotide variant (intron variant)	BBS2-related disorder +3 more	GLikely benign
Select item 1064332	NM_031885.5(BBS2):c.116A>G (p.Lys39Arg)	BBS2 (K39R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +2 more	GUncertain significance
Select item 862167	NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)	BBS2 (G38S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +3 more	GUncertain significance
Select item 4570	NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	BBS2 (Y24*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 74 +3 more	GPathogenic/Likely pathogenic
Select item 1513973	NM_031885.5(BBS2):c.61A>G (p.Ile21Val)	BBS2 (I21V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +2 more	GUncertain significance
Select item 1024255	NM_031885.5(BBS2):c.8T>C (p.Leu3Pro)	BBS2 (L3P)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +2 more	GUncertain significance
Select item 1337986	NM_031885.5(BBS2):c.-2T>G	BBS2	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa 74 +4 more	GConflicting classifications of pathogenicity
Select item 319878	NM_031885.5(BBS2):c.-147G>T	BBS2	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 2 +1 more	GUncertain significance
Select item 886310	NM_031885.3(BBS2):c.-163C>T	BBS2	Single nucleotide variant	Bardet-Biedl syndrome 2 +1 more	GUncertain significance
Select item 319882	NM_031885.3(BBS2):c.-190G>C	BBS2	Single nucleotide variant	Bardet-Biedl syndrome 2 +1 more	GUncertain significance

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