C1859565[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162088	NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)	BBS7 (L656fs)	Indel (frameshift variant)	not provided +2 more	GPathogenic
Select item 2680061	NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)	BBS7	Microsatellite (nonsense +1 more)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 375301	NM_176824.3(BBS7):c.1891-2A>C	BBS7	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2680075	NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)	BBS7 (Q616*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680070	NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)	BBS7 (V602fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 236452	NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)	BBS7 (S571*)	Indel (nonsense)	Bardet-Biedl syndrome 7 +1 more	GPathogenic
Select item 2680072	NM_176824.3(BBS7):c.1685del (p.Glu562fs)	BBS7 (E562fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680064	NM_176824.3(BBS7):c.1677-2A>G	BBS7	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 937093	NM_176824.3(BBS7):c.1654dup (p.Thr552fs)	BBS7 (T552fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 30680	NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)	BBS7	Deletion (inframe_deletion)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 2680083	NM_176824.3(BBS7):c.1579dup (p.Cys527fs)	BBS7 (C527fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 7	GPathogenic
Select item 2680063	NM_176824.3(BBS7):c.1551del (p.Phe517fs)	BBS7 (F517fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 1067026	NM_176824.3(BBS7):c.1512-1G>A	BBS7	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 2680085	NM_176824.3(BBS7):c.1489del (p.Thr497fs)	BBS7 (T497fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 1362137	NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)	BBS7 (Y486*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680065	NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)	BBS7 (C481*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GPathogenic
Select item 662437	NM_176824.3(BBS7):c.1371+1G>A	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7 +1 more	GLikely pathogenic
Select item 2058921	NM_176824.3(BBS7):c.1306-1_1308del	BBS7	Deletion (splice acceptor variant)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 2680080	NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)	BBS7 (Q401*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680087	NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)	BBS7 (I397fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 1076876	NM_176824.3(BBS7):c.1093_1094del (p.Gln365fs)	BBS7 (Q365fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1069616	NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs)	BBS7 (N362fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680079	NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)	BBS7 (Q358*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
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 193765	NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln)	BBS7 (R346Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +2 more	GConflicting classifications of pathogenicity
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 1030350	NM_176824.3(BBS7):c.1012A>T (p.Met338Leu)	BBS7 (M338L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
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 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 2680069	NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)	BBS7 (S311*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 1026932	NM_176824.3(BBS7):c.917T>C (p.Val306Ala)	BBS7 (V306A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 988240	NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)	BBS7 (Q293P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 2680066	NM_176824.3(BBS7):c.849+1G>A	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 1507819	NM_176824.3(BBS7):c.849+1G>C	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 960839	NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)	BBS7 (R280*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 3240903	NM_176824.3(BBS7):c.807_808dup (p.Ser270fs)	BBS7 (S270fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680084	NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)	BBS7 (G264*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 166738	NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)	BBS7 (C243Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680060	NM_176824.3(BBS7):c.725dup (p.Leu242fs)	BBS7 (L242fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680082	NM_176824.3(BBS7):c.719-2A>G	BBS7	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680071	NM_176824.3(BBS7):c.718+1G>C	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 281626	NM_176824.3(BBS7):c.712_715del (p.Arg238fs)	BBS7 (R238fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 7 +3 more	GPathogenic
Select item 2721327	NM_176824.3(BBS7):c.690G>A (p.Trp230Ter)	BBS7 (W230*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 291142	NM_176824.3(BBS7):c.649dup (p.Ala217fs)	BBS7 (A217fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
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 2680078	NM_176824.3(BBS7):c.613_614del (p.Glu205fs)	BBS7 (E205fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3240902	NM_176824.3(BBS7):c.602-1G>A	BBS7	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 3240901	NM_176824.3(BBS7):c.601+2T>C	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680074	NM_176824.3(BBS7):c.517dup (p.Arg173fs)	BBS7 (R173fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
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 2680068	NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)	BBS7 (Y140*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 216138	NM_176824.3(BBS7):c.389_390del (p.Asn130fs)	BBS7 (N130fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2680081	NM_176824.3(BBS7):c.341+2T>C	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680086	NM_176824.3(BBS7):c.328del (p.Ser110fs)	BBS7 (S110fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680088	NM_176824.3(BBS7):c.293_294del (p.Lys98fs)	BBS7 (K98fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680067	NM_176824.3(BBS7):c.288_289del (p.Gly97fs)	BBS7 (G97fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 7	GPathogenic
Select item 1063334	NM_176824.3(BBS7):c.198T>G (p.Ile66Met)	BBS7 (I66M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 988241	NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)	BBS7 (G63R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GPathogenic
Select item 2680062	NM_176824.3(BBS7):c.149dup (p.Lys51fs)	BBS7 (K51fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680073	NM_176824.3(BBS7):c.115_116del (p.Asp39fs)	BBS7 (D39fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680077	NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)	BBS7 (Q33*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680076	NM_176824.3(BBS7):c.72del (p.Pro25fs)	BBS7 (P25fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic

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Items: 62