"Ambry Genetics"[submitter] AND "BBS7"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188236	NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser)	BBS7 (N688S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2062143	NM_176824.3(BBS7):c.2057G>A (p.Gly686Asp)	BBS7 (G686D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 938988	NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu)	BBS7 (P664L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2298469	NM_176824.3(BBS7):c.1858G>A (p.Ala620Thr)	BBS7 (A620T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257094	NM_176824.3(BBS7):c.1695T>A (p.Phe565Leu)	BBS7 (F565L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319753	NM_176824.3(BBS7):c.1454A>G (p.Gln485Arg)	BBS7 (Q485R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320769	NM_176824.3(BBS7):c.1408G>A (p.Ala470Thr)	BBS7 (A470T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 836199	NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)	BBS7 (I461V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 434498	NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)	BBS7 (R459C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 2261706	NM_176824.3(BBS7):c.1316A>G (p.Asn439Ser)	BBS7 (N439S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2041593	NM_176824.3(BBS7):c.1312G>A (p.Asp438Asn)	BBS7 (D438N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2490842	NM_176824.3(BBS7):c.1274C>T (p.Ala425Val)	BBS7 (A425V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 347485	NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr)	BBS7 (D412Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1713790	NM_176824.3(BBS7):c.1214A>G (p.Asp405Gly)	BBS7 (D405G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 985244	NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter)	BBS7 (Q339*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7 +1 more	GPathogenic
Select item 2287650	NM_176824.3(BBS7):c.961C>T (p.Pro321Ser)	BBS7 (P321S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1017434	NM_176824.3(BBS7):c.944C>T (p.Thr315Ile)	BBS7 (T315I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1026932	NM_176824.3(BBS7):c.917T>C (p.Val306Ala)	BBS7 (V306A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 199192	NM_176824.3(BBS7):c.865G>A (p.Val289Ile)	BBS7 (V289I)	Single nucleotide variant (missense variant)	BBS7-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2293429	NM_176824.3(BBS7):c.820G>A (p.Ala274Thr)	BBS7 (A274T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 813023	NM_176824.3(BBS7):c.790G>A (p.Gly264Arg)	BBS7 (G264R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1803882	NM_176824.3(BBS7):c.590A>G (p.Asn197Ser)	BBS7 (N197S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2605787	NM_176824.3(BBS7):c.536A>T (p.Asp179Val)	BBS7 (D179V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 942706	NM_176824.3(BBS7):c.508A>G (p.Arg170Gly)	BBS7 (R170G)	Single nucleotide variant (missense variant)	BBS7-related condition +2 more	GUncertain significance
Select item 2232574	NM_176824.3(BBS7):c.311A>G (p.Glu104Gly)	BBS7 (E104G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 197387	NM_176824.3(BBS7):c.223A>G (p.Ile75Val)	BBS7 (I75V)	Single nucleotide variant (missense variant)	BBS7-related condition +3 more	GUncertain significance
Select item 1052715	NM_176824.3(BBS7):c.191C>T (p.Pro64Leu)	BBS7 (P64L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 985245	NM_176824.3(BBS7):c.174del (p.Phe58fs)	BBS7 (F58fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2236874	NM_176824.3(BBS7):c.134T>C (p.Met45Thr)	BBS7 (M45T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 29