"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BBS9"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 844363	NM_198428.3(BBS9):c.19C>T (p.Arg7Cys)	BBS9 (R7C)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1501963	NM_198428.3(BBS9):c.20G>A (p.Arg7His)	BBS9 (R7H)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 858504	NM_198428.3(BBS9):c.20G>T (p.Arg7Leu)	BBS9 (R7L)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 649884	NM_198428.3(BBS9):c.58T>G (p.Phe20Val)	BBS9 (F20V)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1064082	NM_198428.3(BBS9):c.122T>G (p.Ile41Ser)	BBS9 (I41S)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1135979	NM_198428.3(BBS9):c.195C>A (p.Ala65=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome 9 +1 more	GLikely benign
Select item 263128	NM_198428.3(BBS9):c.270C>T (p.Thr90=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	not specified +2 more	GBenign/Likely benign
Select item 462970	NM_198428.3(BBS9):c.310del (p.Cys104fs)	BBS9 (C104fs +2 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 9 +1 more	GPathogenic
Select item 1395850	NM_198428.3(BBS9):c.335T>C (p.Leu112Ser)	BBS9 (L67S +2 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 531844	NM_198428.3(BBS9):c.390T>C (p.Asn130=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 841915	NM_198428.3(BBS9):c.396G>C (p.Gln132His)	BBS9 (Q10H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 387597	NM_198428.3(BBS9):c.436G>A (p.Val146Ile)	BBS9 (V146I +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder +3 more	GUncertain significance
Select item 698364	NM_198428.3(BBS9):c.528T>A (p.Pro176=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1392502	NM_198428.3(BBS9):c.529G>T (p.Gly177Cys)	BBS9 (G132C +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 1664359	NM_198428.3(BBS9):c.531C>T (p.Gly177=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 699176	NM_198428.3(BBS9):c.531C>A (p.Gly177=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 242249	NM_198428.3(BBS9):c.555C>T (p.Ala185=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GBenign/Likely benign
Select item 1397187	NM_198428.3(BBS9):c.559A>G (p.Ser187Gly)	BBS9 (S142G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1399014	NM_198428.3(BBS9):c.563C>T (p.Ser188Phe)	BBS9 (S188F +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 434500	NM_198428.3(BBS9):c.621C>T (p.Tyr207=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +3 more	GLikely benign
Select item 462972	NM_198428.3(BBS9):c.678A>G (p.Lys226=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GBenign/Likely benign
Select item 1381734	NM_198428.3(BBS9):c.702+6G>A	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1167622	NM_198428.3(BBS9):c.702+15dup	BBS9	Duplication (intron variant)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 235610	NM_198428.3(BBS9):c.736C>T (p.Leu246Phe)	BBS9 (L246F +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 971614	NM_198428.3(BBS9):c.761A>G (p.Asn254Ser)	BBS9 (N132S +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 578179	NM_198428.3(BBS9):c.818A>G (p.Asp273Gly)	BBS9 (D273G +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1485492	NM_198428.3(BBS9):c.833G>A (p.Arg278Gln)	BBS9 (R278Q +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1051873	NM_198428.3(BBS9):c.862A>G (p.Ser288Gly)	BBS9 (S166G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1650981	NM_198428.3(BBS9):c.886+14T>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1060247	NM_198428.3(BBS9):c.894A>C (p.Glu298Asp)	BBS9 (E176D +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related disorder +2 more	GUncertain significance
Select item 968155	NM_198428.3(BBS9):c.928A>G (p.Asn310Asp)	BBS9 (N219D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 910917	NM_198428.3(BBS9):c.938A>G (p.His313Arg)	BBS9 (H191R +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1486717	NM_198428.3(BBS9):c.1033A>G (p.Ile345Val)	BBS9 (I300V +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 263113	NM_198428.3(BBS9):c.1110C>T (p.Asn370=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1490103	NM_198428.3(BBS9):c.1111G>A (p.Val371Ile)	BBS9 (V371I +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 967273	NM_198428.3(BBS9):c.1147G>A (p.Val383Ile)	BBS9 (V261I +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1118666	NM_198428.3(BBS9):c.1198+13C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 967279	NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp)	BBS9 (G400D +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1483412	NM_198428.3(BBS9):c.1245C>A (p.Val415=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 849613	NM_198428.3(BBS9):c.1249G>T (p.Val417Phe)	BBS9 (V372F +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1168836	NM_198428.3(BBS9):c.1276-17C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 854046	NM_198428.3(BBS9):c.1293G>C (p.Glu431Asp)	BBS9 (E431D +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 434503	NM_198428.3(BBS9):c.1322C>T (p.Thr441Met)	BBS9 (T441M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1049097	NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr)	BBS9 (I329T +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1007872	NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser)	BBS9 (L335S +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1534205	NM_198428.3(BBS9):c.1377C>T (p.Val459=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GLikely benign
Select item 216145	NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter)	BBS9 (E475* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1017297	NM_198428.3(BBS9):c.1431G>A (p.Met477Ile)	BBS9 (M355I +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 695993	NM_198428.3(BBS9):c.1432+7T>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 1113742	NM_198428.3(BBS9):c.1464T>C (p.Ser488=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome 9 +1 more	GLikely benign
Select item 1175009	NM_198428.3(BBS9):c.1468del (p.Tyr490fs)	BBS9 (Y368fs +3 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 412263	NM_198428.3(BBS9):c.1468T>C (p.Tyr490His)	BBS9 (Y490H +3 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1073367	NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)	BBS9 (K370* +3 more)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 9 +1 more	GPathogenic/Likely pathogenic
Select item 216843	NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala)	BBS9 (T496A +3 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 220123	NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile)	BBS9 (T496I +3 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 908132	NM_198428.3(BBS9):c.1537+14C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 462969	NM_198428.3(BBS9):c.1538-7T>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 263119	NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)	BBS9 (P516T +6 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +4 more	GBenign
Select item 704326	NM_198428.3(BBS9):c.1560G>A (p.Pro520=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 695852	NM_198428.3(BBS9):c.1606C>T (p.Leu536=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GBenign/Likely benign
Select item 194684	NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)	BBS9 (T549I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 947972	NM_198428.3(BBS9):c.1741C>T (p.His581Tyr)	BBS9 (H536Y +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 910082	NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln)	BBS9 (R461Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1074830	NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)	BBS9 (Q440* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9 +2 more	GPathogenic
Select item 2656	NM_198428.3(BBS9):c.1789+1G>A	BBS9	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 9 +2 more	GPathogenic
Select item 1093259	NM_198428.3(BBS9):c.1790-17T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1617205	NM_198428.3(BBS9):c.1790-7C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2657	NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)	BBS9 (R598* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1434022	NM_198428.3(BBS9):c.1798C>T (p.Arg600Cys)	BBS9 (R509C +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 853411	NM_198428.3(BBS9):c.1799G>A (p.Arg600His)	BBS9 (R443H +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1412141	NM_198428.3(BBS9):c.1801A>G (p.Ile601Val)	BBS9 (I444V +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 968232	NM_198428.3(BBS9):c.1836A>G (p.Ile612Met)	BBS9 (I490M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1044975	NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly)	BBS9 (E524G +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1465551	NM_198428.3(BBS9):c.1855C>T (p.Arg619Cys)	BBS9 (R493C +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2662	NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)	BBS9 (K504fs +8 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +3 more	GPathogenic
Select item 910083	NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr)	BBS9 (A507T +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 166740	NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)	BBS9 (L665F +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 1074680	NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs)	BBS9 (A513fs +8 more)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GPathogenic/Likely pathogenic
Select item 1129089	NM_198428.3(BBS9):c.2022G>T (p.Arg674=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 910979	NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys)	BBS9 (R643C +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1062754	NM_198428.3(BBS9):c.2033G>A (p.Arg678His)	BBS9 (R521H +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 910980	NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr)	BBS9 (A637T +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 1398187	NM_198428.3(BBS9):c.2080C>T (p.His694Tyr)	BBS9 (H568Y +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 360068	NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn)	BBS9 (D696N +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 935069	NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn)	BBS9 (D574N +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1636914	NM_198428.3(BBS9):c.2115+17dup	BBS9	Duplication (intron variant)	Bardet-Biedl syndrome 9 +1 more	GLikely benign
Select item 1576078	NM_198428.3(BBS9):c.2115+19A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1620287	NM_198428.3(BBS9):c.2115+20C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1015510	NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile)	BBS9 (T568I +8 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1015925	NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn)	BBS9 (S572N +8 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 263123	NM_198428.3(BBS9):c.2220G>A (p.Leu740=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 912209	NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu)	BBS9 (P601L +8 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1496041	NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal)	BBS9	Deletion (inframe_indel +2 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 263124	NM_198428.3(BBS9):c.2299-20A>C	BBS9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 216844	NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly)	BBS9 (E770G +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 1110487	NM_198428.3(BBS9):c.2313G>A (p.Thr771=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GLikely benign
Select item 263125	NM_198428.3(BBS9):c.2322C>T (p.Ala774=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GLikely benign
Select item 971120	NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu)	BBS9 (K606E +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 934179	NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser)	BBS9 (N668S +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 958389	NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe)	BBS9 (I690F +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance

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