"GeneDx"[submitter] AND "BBS7"[gene] - ClinVar

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

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 57894	GRCh38/hg38 4q27(chr4:121636147-122327601)x3	LOC126807144, LOC126807145 +22 more	Copy number gain	See cases	GUncertain significance
Select item 1269263	NM_176824.3(BBS7):c.2014+305T>G	BBS7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 262922	NM_176824.3(BBS7):c.1891-12C>A	BBS7	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 262921	NM_176824.3(BBS7):c.1890+16G>A	BBS7	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1266927	NM_176824.3(BBS7):c.1677-122T>C	BBS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233403	NM_176824.3(BBS7):c.1677-196G>A	BBS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229330	NM_176824.3(BBS7):c.1677-260dup	BBS7	Duplication (intron variant)	not provided	GBenign
Select item 3340597	NM_176824.3(BBS7):c.1565C>T (p.Ser522Phe)	BBS7 (S522F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262918	NM_176824.3(BBS7):c.1511+25C>A	BBS7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 347482	NM_176824.3(BBS7):c.1505A>G (p.His502Arg)	BBS7 (H502R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +3 more	GConflicting classifications of pathogenicity
Select item 1276932	NM_176824.3(BBS7):c.1306-117C>T	BBS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 430210	NM_176824.3(BBS7):c.1285T>G (p.Phe429Val)	BBS7 (F429V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 531839	NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly)	BBS7 (D412G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1235930	NM_176824.3(BBS7):c.1037+149C>T	BBS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3015	NM_176824.3(BBS7):c.968A>G (p.His323Arg)	BBS7 (H323R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +2 more	GPathogenic/Likely pathogenic
Select item 1233374	NM_176824.3(BBS7):c.935-224dup	BBS7	Duplication (intron variant)	not provided	GBenign
Select item 262923	NM_176824.3(BBS7):c.934+31_934+34del	BBS7	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 262924	NM_176824.3(BBS7):c.934+32A>G	BBS7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 961197	NM_176824.3(BBS7):c.863G>A (p.Ser288Asn)	BBS7 (S288N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 522733	NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)	BBS7 (G240D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1315298	NM_176824.3(BBS7):c.650C>T (p.Ala217Val)	BBS7 (A217V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1274429	NM_176824.3(BBS7):c.602-92T>C	BBS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227070	NM_176824.3(BBS7):c.601+189G>A	BBS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262181	NM_176824.3(BBS7):c.529-143G>T	BBS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179282	NM_176824.3(BBS7):c.529-217C>T	BBS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280398	NM_176824.3(BBS7):c.528+173G>C	BBS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1030351	NM_176824.3(BBS7):c.442A>C (p.Asn148His)	BBS7 (N148H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1309653	NM_176824.3(BBS7):c.277T>G (p.Phe93Val)	BBS7 (F93V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 262919	NM_176824.3(BBS7):c.166-45C>T	BBS7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1178493	NM_176824.3(BBS7):c.102+254G>A	BBS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347491	NM_176824.3(BBS7):c.-133C>G	BBS7	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 7 +1 more	GBenign
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic

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: 33