"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BBS7"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1150031	NM_176824.3(BBS7):c.2136C>T (p.Phe712=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1493448	NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg)	BBS7 (S702R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 188236	NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser)	BBS7 (N688S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +4 more	GUncertain significance
Select item 1001617	NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys)	BBS7 (Y671C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 969175	NM_176824.3(BBS7):c.1996C>T (p.His666Tyr)	BBS7 (H666Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +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 1013678	NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys)	BBS7 (E658K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 162088	NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)	BBS7 (L656fs)	Indel (frameshift variant)	not provided +2 more	GPathogenic
Select item 1427622	NM_176824.3(BBS7):c.1960G>C (p.Asp654His)	BBS7 (D654H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1489640	NM_176824.3(BBS7):c.1916C>T (p.Thr639Met)	BBS7 (T639M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 701800	NM_176824.3(BBS7):c.1806C>G (p.Val602=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 7 +1 more	GLikely benign
Select item 1549795	NM_176824.3(BBS7):c.1755A>G (p.Thr585=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1388400	NM_176824.3(BBS7):c.1717A>G (p.Ile573Val)	BBS7 (I573V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1391084	NM_176824.3(BBS7):c.1676+7C>G	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 937093	NM_176824.3(BBS7):c.1654dup (p.Thr552fs)	BBS7 (T552fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 347481	NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr)	BBS7 (P535T)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1038287	NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser)	BBS7 (P529S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 940885	NM_176824.3(BBS7):c.1574T>G (p.Val525Gly)	BBS7 (V525G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 958348	NM_176824.3(BBS7):c.1517T>C (p.Met506Thr)	BBS7 (M506T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1436469	NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser)	BBS7 (P505S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 166737	NM_176824.3(BBS7):c.1512-7A>T	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +3 more	GBenign/Likely benign
Select item 1579072	NM_176824.3(BBS7):c.1511+19C>A	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 7 +1 more	GLikely benign
Select item 695585	NM_176824.3(BBS7):c.1511+9A>G	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1403412	NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys)	BBS7 (R484C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 434498	NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)	BBS7 (R459C)	Single nucleotide variant (missense variant)	BBS7-related disorder +5 more	GUncertain significance
Select item 1597615	NM_176824.3(BBS7):c.1372-19C>G	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1393456	NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp)	BBS7 (R446W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1659258	NM_176824.3(BBS7):c.1305+13A>G	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 838538	NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)	BBS7 (D421E)	Single nucleotide variant (missense variant)	BBS7-related disorder +2 more	GUncertain significance
Select item 1584542	NM_176824.3(BBS7):c.1231-15dup	BBS7	Duplication (intron variant)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 1648177	NM_176824.3(BBS7):c.1231-16T>C	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1146751	NM_176824.3(BBS7):c.1158A>T (p.Thr386=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 7 +1 more	GLikely benign
Select item 1007755	NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe)	BBS7 (S366F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +3 more	GUncertain significance
Select item 1364398	NM_176824.3(BBS7):c.1069T>G (p.Leu357Val)	BBS7 (L357V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 285609	NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)	BBS7	Microsatellite (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1088568	NM_176824.3(BBS7):c.1056G>A (p.Leu352=)	BBS7	Single nucleotide variant (synonymous variant)	BBS7-related disorder +2 more	GLikely benign
Select item 1582509	NM_176824.3(BBS7):c.1038-16A>G	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 866308	NM_176824.3(BBS7):c.1002del (p.Asn335fs)	BBS7 (N335fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7 +2 more	GPathogenic
Select item 1392681	NM_176824.3(BBS7):c.983C>A (p.Pro328Gln)	BBS7 (P328Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	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 1579686	NM_176824.3(BBS7):c.934+17T>C	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 7 +1 more	GLikely benign
Select item 1026932	NM_176824.3(BBS7):c.917T>C (p.Val306Ala)	BBS7 (V306A)	Single nucleotide variant (missense variant)	BBS7-related disorder +3 more	GUncertain significance
Select item 960839	NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)	BBS7 (R280*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 281626	NM_176824.3(BBS7):c.712_715del (p.Arg238fs)	BBS7 (R238fs)	Microsatellite (frameshift variant)	BBS7-related disorder +4 more	GPathogenic
Select item 531821	NM_176824.3(BBS7):c.683G>A (p.Arg228His)	BBS7 (R228H)	Single nucleotide variant (missense variant)	BBS7-related disorder +3 more	GUncertain significance
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 1518093	NM_176824.3(BBS7):c.640G>A (p.Gly214Arg)	BBS7 (G214R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 3016	NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)	BBS7 (T211I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 838417	NM_176824.3(BBS7):c.601+3A>G	BBS7	Single nucleotide variant (intron variant)	BBS7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1051889	NM_176824.3(BBS7):c.600C>A (p.Gly200=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 962347	NM_176824.3(BBS7):c.479G>A (p.Arg160His)	BBS7 (R160H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
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 216138	NM_176824.3(BBS7):c.389_390del (p.Asn130fs)	BBS7 (N130fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 999035	NM_176824.3(BBS7):c.340A>G (p.Met114Val)	BBS7 (M114V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 951133	NM_176824.3(BBS7):c.340A>C (p.Met114Leu)	BBS7 (M114L)	Single nucleotide variant (missense variant)	BBS7-related disorder +2 more	GUncertain significance
Select item 1046845	NM_176824.3(BBS7):c.329G>A (p.Ser110Asn)	BBS7 (S110N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1172705	NM_176824.3(BBS7):c.302T>A (p.Leu101His)	BBS7 (L101H)	Single nucleotide variant (missense variant)	BBS7-related disorder +2 more	GUncertain significance
Select item 863532	NM_176824.3(BBS7):c.271A>G (p.Arg91Gly)	BBS7 (R91G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1052715	NM_176824.3(BBS7):c.191C>T (p.Pro64Leu)	BBS7 (P64L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1647823	NM_176824.3(BBS7):c.165+16T>C	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1052675	NM_176824.3(BBS7):c.22A>T (p.Met8Leu)	LOC129993036, BBS7 (M8L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance

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Items: 61