583[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 2562109	NM_018233.4(OGFOD1):c.1112C>T (p.Ser371Leu)	BBS2, OGFOD1 (S231L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204108	NM_018233.4(OGFOD1):c.1281G>C (p.Lys427Asn)	BBS2, OGFOD1 (K330N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252369	NM_018233.4(OGFOD1):c.1444A>T (p.Ile482Phe)	BBS2, OGFOD1 (I342F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2502268	NM_018233.4(OGFOD1):c.1467+11_1467+13del	BBS2, OGFOD1	Microsatellite (intron variant)	Retinitis pigmentosa 74 +1 more	GUncertain significance
Select item 3204109	NM_018233.4(OGFOD1):c.1510T>C (p.Tyr504His)	BBS2, OGFOD1 (Y466H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406505	NM_018233.4(OGFOD1):c.1547T>C (p.Ile516Thr)	BBS2, OGFOD1 (I376T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380657	NM_018233.4(OGFOD1):c.1556G>A (p.Arg519Gln)	BBS2, OGFOD1 (R464Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240290	NM_018233.4(OGFOD1):c.1583C>G (p.Pro528Arg)	BBS2, OGFOD1 (P388R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024873	NM_018233.4(OGFOD1):c.1584A>C (p.Pro528=)	BBS2, OGFOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2281848	NM_018233.4(OGFOD1):c.1609T>G (p.Ser537Ala)	BBS2, OGFOD1 (S537A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 319846	NM_031885.5(BBS2):c.*316A>G	BBS2	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 2	GBenign
Select item 319847	NM_031885.5(BBS2):c.*91C>T	BBS2	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 2	GUncertain significance
Select item 887177	NM_031885.5(BBS2):c.*34A>G	BBS2	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 2	GUncertain significance
Select item 261976	NM_031885.5(BBS2):c.*13C>T	BBS2	Single nucleotide variant (3 prime UTR variant +2 more)	Bardet-Biedl syndrome 2 +2 more	GBenign/Likely benign
Select item 3028355	NM_031885.5(BBS2):c.2166G>A (p.Ter722=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 553716	NM_031885.5(BBS2):c.2166G>C (p.Ter722Tyr)	BBS2	Single nucleotide variant (stop lost +1 more)	Bardet-Biedl syndrome 2	GUncertain significance
Select item 1106542	NM_031885.5(BBS2):c.2160T>C (p.Ser720=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1124414	NM_031885.5(BBS2):c.2157T>G (p.Ala719=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1385333	NM_031885.5(BBS2):c.2152del (p.Thr718fs)	BBS2 (T718fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2878743	NM_031885.5(BBS2):c.2151G>A (p.Gly717=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1195901	NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln)	BBS2 (R715Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GUncertain significance
Select item 554117	NM_031885.5(BBS2):c.2143C>T (p.Arg715Ter)	BBS2 (R715*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GUncertain significance
Select item 1570577	NM_031885.5(BBS2):c.2139C>T (p.Ile713=)	BBS2	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2992922	NM_031885.5(BBS2):c.2130G>A (p.Leu710=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 998613	NM_031885.5(BBS2):c.2129T>C (p.Leu710Pro)	BBS2 (L710P)	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1159793	NM_031885.5(BBS2):c.2128C>T (p.Leu710=)	BBS2	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1388914	NM_031885.5(BBS2):c.2125A>T (p.Thr709Ser)	BBS2 (T709S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2916015	NM_031885.5(BBS2):c.2121C>T (p.Ile707=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2062562	NM_031885.5(BBS2):c.2117A>T (p.Asn706Ile)	BBS2 (N706I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1367667	NM_031885.5(BBS2):c.2104_2110del (p.Ile702fs)	BBS2 (I702fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 1961306	NM_031885.5(BBS2):c.2108G>T (p.Arg703Leu)	BBS2 (R703L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1414270	NM_031885.5(BBS2):c.2108G>A (p.Arg703Gln)	BBS2 (R703Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 496478	NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)	BBS2 (R703*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +4 more	GPathogenic/Likely pathogenic
Select item 2916013	NM_031885.5(BBS2):c.2106T>A (p.Ile702=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1093149	NM_031885.5(BBS2):c.2106T>C (p.Ile702=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1401527	NM_031885.5(BBS2):c.2104A>G (p.Ile702Val)	BBS2 (I702V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1448255	NM_031885.5(BBS2):c.2101G>C (p.Ala701Pro)	BBS2 (A701P)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1487151	NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp)	BBS2 (R699W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GUncertain significance
Select item 1549123	NM_031885.5(BBS2):c.2091T>G (p.Ala697=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 319848	NM_031885.5(BBS2):c.2088T>C (p.Thr696=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1448782	NM_031885.5(BBS2):c.2087C>T (p.Thr696Ile)	BBS2 (T696I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 963151	NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr)	BBS2 (I695T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 319849	NM_031885.5(BBS2):c.2079G>A (p.Gln693=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GBenign
Select item 3240886	NM_031885.5(BBS2):c.2077del (p.Gln693fs)	BBS2 (Q693fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2165894	NM_031885.5(BBS2):c.2067A>G (p.Lys689=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2009642	NM_031885.5(BBS2):c.2064A>G (p.Gly688=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 555474	NM_031885.5(BBS2):c.2060-1G>T	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 2 +1 more	GLikely pathogenic
Select item 1097152	NM_031885.5(BBS2):c.2060-4G>A	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1422142	NM_031885.5(BBS2):c.2060-5T>G	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1126541	NM_031885.5(BBS2):c.2060-5T>C	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1103827	NM_031885.5(BBS2):c.2060-8_2060-5del	BBS2	Deletion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2877954	NM_031885.5(BBS2):c.2060-6A>G	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2827709	NM_031885.5(BBS2):c.2060-7T>C	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1096578	NM_031885.5(BBS2):c.2060-9_2060-7del	BBS2	Microsatellite (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1100052	NM_031885.5(BBS2):c.2060-8T>C	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1090547	NM_031885.5(BBS2):c.2060-9C>T	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1135234	NM_031885.5(BBS2):c.2060-10T>C	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2798413	NM_031885.5(BBS2):c.2060-18A>T	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1263476	NM_031885.5(BBS2):c.2060-318T>C	BBS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279873	NM_031885.5(BBS2):c.2059+79A>G	BBS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021921	NM_031885.5(BBS2):c.2059+19_2059+20insT	BBS2	Insertion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1667460	NM_031885.5(BBS2):c.2059+15A>T	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1660024	NM_031885.5(BBS2):c.2059+15A>G	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1128119	NM_031885.5(BBS2):c.2059+12_2059+13del	BBS2	Deletion (intron variant)	Bardet-Biedl syndrome 2 +2 more	GLikely benign
Select item 2023513	NM_031885.5(BBS2):c.2059+8T>G	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2851675	NM_031885.5(BBS2):c.2059+7C>T	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1100696	NM_031885.5(BBS2):c.2059+7C>G	BBS2	Single nucleotide variant (intron variant)	BBS2-related disorder +1 more	GLikely benign
Select item 2680009	NM_031885.5(BBS2):c.2059+1del	BBS2	Deletion (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1073654	NM_031885.5(BBS2):c.2059+1G>T	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome	GPathogenic
Select item 1515588	NM_031885.5(BBS2):c.2059G>C (p.Val687Leu)	BBS2 (V687L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 551970	NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs)	BBS2 (V687fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2376691	NM_031885.5(BBS2):c.2057G>A (p.Arg686Gln)	BBS2 (R686Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 956721	NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp)	BBS2 (R686W)	Single nucleotide variant (missense variant +1 more)	BBS2-related disorder +3 more	GUncertain significance
Select item 2139518	NM_031885.5(BBS2):c.2055G>A (p.Leu685=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1380279	NM_031885.5(BBS2):c.2051G>A (p.Arg684His)	BBS2 (R684H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2999012	NM_031885.5(BBS2):c.2049T>A (p.Gly683=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1121467	NM_031885.5(BBS2):c.2046A>C (p.Ala682=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1508938	NM_031885.5(BBS2):c.2044G>A (p.Ala682Thr)	BBS2 (A682T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 558537	NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter)	BBS2 (Q680*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2621878	NM_031885.5(BBS2):c.2035A>G (p.Ile679Val)	BBS2 (I679V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1508397	NM_031885.5(BBS2):c.2033C>T (p.Ala678Val)	BBS2 (A678V)	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1157798	NM_031885.5(BBS2):c.2028T>C (p.Asn676=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2912312	NM_031885.5(BBS2):c.2025A>G (p.Val675=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2903046	NM_031885.5(BBS2):c.2019A>G (p.Lys673=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1104121	NM_031885.5(BBS2):c.2016C>G (p.Leu672=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1047197	NM_031885.5(BBS2):c.2013C>A (p.Asn671Lys)	BBS2 (N671K)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1359185	NM_031885.5(BBS2):c.2006T>G (p.Leu669Trp)	BBS2 (L669W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2158793	NM_031885.5(BBS2):c.2005T>C (p.Leu669=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1670860	NM_031885.5(BBS2):c.2002C>T (p.Leu668=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 951358	NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln)	BBS2 (E667Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2095245	NM_031885.5(BBS2):c.1998A>G (p.Thr666=)	BBS2	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2024001	NM_031885.5(BBS2):c.1997_1998del (p.Thr666fs)	BBS2 (T666fs)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 1439806	NM_031885.5(BBS2):c.1991A>G (p.Asn664Ser)	BBS2 (N664S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1145016	NM_031885.5(BBS2):c.1989C>T (p.Asn663=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 943913	NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)	BBS2 (N663*)	Duplication (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic

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