"GeneDx"[submitter] AND "BBS2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261976	NM_031885.5(BBS2):c.*13C>T	BBS2	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 2 +2 more	GBenign/Likely benign
Select item 1263476	NM_031885.5(BBS2):c.2060-318T>C	BBS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279873	NM_031885.5(BBS2):c.2059+79A>G	BBS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236537	NM_031885.5(BBS2):c.1910+129C>T	BBS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240990	NM_031885.5(BBS2):c.1798-194G>C	BBS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261980	NM_031885.5(BBS2):c.1659+3A>G	BBS2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1007760	NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp)	BBS2 (R539W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1519024	NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys)	BBS2 (G515C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +3 more	GUncertain significance
Select item 1281083	NM_031885.5(BBS2):c.1528-150dup	BBS2	Duplication (intron variant)	not provided	GBenign
Select item 1283549	NM_031885.5(BBS2):c.1528-139del	BBS2	Deletion (intron variant)	not provided	GBenign
Select item 100595	NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)	BBS2 (A504V)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 553353	NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)	BBS2 (R480*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 1286563	NM_031885.5(BBS2):c.1397+211dup	BBS2	Duplication (intron variant)	not provided	GBenign
Select item 1314056	NM_031885.5(BBS2):c.1348G>A (p.Asp450Asn)	BBS2 (D450N)	Single nucleotide variant (missense variant +1 more)	not provided	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 +4 more	GPathogenic/Likely pathogenic
Select item 1227265	NM_031885.5(BBS2):c.1226-122T>C	BBS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296926	NM_031885.5(BBS2):c.1225+71del	BBS2	Deletion (intron variant)	not provided	GBenign
Select item 319857	NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)	BBS2 (R403C)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1289601	NM_031885.5(BBS2):c.1081-101T>C	BBS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181842	NM_031885.5(BBS2):c.1081-204T>G	BBS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239372	NM_031885.5(BBS2):c.1080+149G>A	BBS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 35754	NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)	BBS2 (R339*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1271874	NM_031885.5(BBS2):c.940+91C>T	BBS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1699592	NM_031885.5(BBS2):c.830G>T (p.Gly277Val)	BBS2 (G277V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1315297	NM_031885.5(BBS2):c.827C>G (p.Thr276Ser)	BBS2 (T276S)	Single nucleotide variant (missense variant +1 more)	not provided	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 +4 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 944852	NM_031885.5(BBS2):c.804+1_804+14del	BBS2	Deletion (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 261983	NM_031885.5(BBS2):c.718-34G>A	BBS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 554001	NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)	BBS2 (R234*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +3 more	GPathogenic
Select item 813999	NM_031885.5(BBS2):c.685T>C (p.Tyr229His)	BBS2 (Y229H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1172737	NM_031885.5(BBS2):c.613-54C>G	BBS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 35756	NM_031885.5(BBS2):c.612+12C>A	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +4 more	GBenign
Select item 1312070	NM_031885.5(BBS2):c.380C>G (p.Thr127Arg)	BBS2 (T127R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +4 more	GUncertain significance
Select item 261981	NM_031885.5(BBS2):c.367A>G (p.Ile123Val)	BBS2 (I123V)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 4577	NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	BBS2 (D104A)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 more	GPathogenic
Select item 4571	NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)	BBS2 (Q59*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +3 more	GPathogenic/Likely pathogenic
Select item 1243168	NM_031885.5(BBS2):c.118-185G>A	BBS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369636	NM_031885.5(BBS2):c.2T>G (p.Met1Arg)	BBS2 (M1R)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1337986	NM_031885.5(BBS2):c.-2T>G	BBS2	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 2 +3 more	GUncertain significance
Select item 261977	NM_031885.5(BBS2):c.-40T>C	BBS2	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 2 +3 more	GBenign/Likely benign
Select item 261978	NM_031885.5(BBS2):c.-42T>G	BBS2	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 2 +3 more	GBenign/Likely benign
Select item 319876	NM_031885.5(BBS2):c.-137C>G	BBS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 319883	NM_031885.3(BBS2):c.-191G>T	BBS2	Single nucleotide variant	Bardet-Biedl syndrome 2 +1 more	GBenign
Select item 369113	NM_031885.3(BBS2):c.-239G>A	BBS2	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 369114	NM_031885.3(BBS2):c.-242T>C	BBS2	Single nucleotide variant	not provided +1 more	GBenign
Select item 1253462	NC_000016.10:g.56520180G>C	BBS2	Single nucleotide variant	not provided	GBenign
Select item 1244480	NC_000016.10:g.56520206T>C	BBS2	Single nucleotide variant	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 48