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

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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)	Bardet-Biedl syndrome 7 +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

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Items: 33