26291[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 more	Copy number loss	See cases	GPathogenic
Select item 310465	NM_024685.4(BBS10):c.*1325T>C	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310466	NM_024685.4(BBS10):c.*1275A>C	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310467	NM_024685.4(BBS10):c.*1250A>G	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310468	NM_024685.4(BBS10):c.*1248A>G	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GBenign
Select item 310469	NM_024685.4(BBS10):c.1241_1244del	BBS10	Deletion (3 prime UTR variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 310470	NM_024685.4(BBS10):c.*1204T>A	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 882422	NM_024685.4(BBS10):c.*1197A>G	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310471	NM_024685.4(BBS10):c.*1189dup	BBS10	Duplication (3 prime UTR variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 882423	NM_024685.4(BBS10):c.*1164A>G	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310472	NM_024685.4(BBS10):c.*1145A>C	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310473	NM_024685.4(BBS10):c.*1140A>G	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 882424	NM_024685.4(BBS10):c.*1113G>C	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310474	NM_024685.4(BBS10):c.*1051C>T	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10 +1 more	GBenign
Select item 884130	NM_024685.4(BBS10):c.*1041G>T	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310475	NM_024685.4(BBS10):c.*955T>C	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 884131	NM_024685.4(BBS10):c.*947G>T	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310476	NM_024685.4(BBS10):c.*930A>G	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310477	NM_024685.4(BBS10):c.*891T>C	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310478	NM_024685.4(BBS10):c.*805T>C	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10 +1 more	GBenign
Select item 310479	NM_024685.4(BBS10):c.*773T>C	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310480	NM_024685.4(BBS10):c.*769G>C	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10 +1 more	GBenign
Select item 880836	NM_024685.4(BBS10):c.*734G>T	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310481	NM_024685.4(BBS10):c.*641AT[2]	BBS10	Microsatellite (3 prime UTR variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 310482	NM_024685.4(BBS10):c.*632T>C	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GBenign
Select item 880837	NM_024685.4(BBS10):c.*529C>T	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310483	NM_024685.4(BBS10):c.*498A>G	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10 +1 more	GBenign
Select item 880838	NM_024685.4(BBS10):c.*264A>T	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310484	NM_024685.4(BBS10):c.*177T>G	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 310485	NM_024685.4(BBS10):c.*119G>A	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 310486	NM_024685.4(BBS10):c.*106C>T	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10 +1 more	GUncertain significance
Select item 310487	NM_024685.4(BBS10):c.*87A>C	BBS10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 882226	NM_024685.4(BBS10):c.*48G>C	BBS10	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 3348911	NM_024685.4(BBS10):c.*8del	BBS10	Deletion (3 prime UTR variant)	BBS10-related disorder	GLikely benign
Select item 1035476	NM_024685.4(BBS10):c.2169A>G (p.Leu723=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1425681	NM_024685.4(BBS10):c.2167C>G (p.Leu723Val)	BBS10 (L723V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1160496	NM_024685.4(BBS10):c.2167C>T (p.Leu723=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1131613	NM_024685.4(BBS10):c.2166A>G (p.Glu722=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 990672	NM_024685.4(BBS10):c.2157A>G (p.Ser719=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 970437	NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter)	BBS10 (S719*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GUncertain significance
Select item 1487271	NM_024685.4(BBS10):c.2146A>C (p.Asn716His)	BBS10 (N716H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2415742	NM_024685.4(BBS10):c.2144A>C (p.His715Pro)	BBS10 (H715P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 195378	NM_024685.4(BBS10):c.2144A>G (p.His715Arg)	BBS10 (H715R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 700499	NM_024685.4(BBS10):c.2142T>G (p.Val714=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 503772	NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs)	BBS10 (K713fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1109049	NM_024685.4(BBS10):c.2139A>G (p.Lys713=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1413256	NM_024685.4(BBS10):c.2132C>T (p.Pro711Leu)	BBS10 (P711L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2043786	NM_024685.4(BBS10):c.2130C>T (p.His710=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 499562	NM_024685.4(BBS10):c.2123_2126delinsGGA (p.Lys708fs)	BBS10 (K708fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 988217	NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs)	BBS10 (K708fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 406221	NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	BBS10	Deletion (nonsense)	Bardet-Biedl syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 3344525	NM_024685.4(BBS10):c.2108T>A (p.Met703Lys)	BBS10 (M703K)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 2058104	NM_024685.4(BBS10):c.2107A>G (p.Met703Val)	BBS10 (M703V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2797989	NM_024685.4(BBS10):c.2106C>T (p.Asp702=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1659973	NM_024685.4(BBS10):c.2103T>C (p.Ile701=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2145193	NM_024685.4(BBS10):c.2095T>G (p.Leu699Val)	BBS10 (L699V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2055780	NM_024685.4(BBS10):c.2095T>C (p.Leu699=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 860011	NM_024685.4(BBS10):c.2091A>C (p.Lys697Asn)	BBS10 (K697N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1646421	NM_024685.4(BBS10):c.2085G>A (p.Leu695=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 446892	NM_024685.4(BBS10):c.2080T>C (p.Cys694Arg)	BBS10 (C694R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 551976	NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter)	BBS10 (Q693*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 1922187	NM_024685.4(BBS10):c.2070A>T (p.Ser690=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1664113	NM_024685.4(BBS10):c.2070A>G (p.Ser690=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 550617	NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro)	BBS10 (T689P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3001914	NM_024685.4(BBS10):c.2062C>T (p.Leu688=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2874829	NM_024685.4(BBS10):c.2061A>G (p.Leu687=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1609680	NM_024685.4(BBS10):c.2059C>T (p.Leu687=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1967582	NM_024685.4(BBS10):c.2057A>G (p.Gln686Arg)	BBS10 (Q686R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1106358	NM_024685.4(BBS10):c.2055C>T (p.Tyr685=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 952132	NM_024685.4(BBS10):c.2052del (p.Lys684fs)	BBS10 (K684fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2013221	NM_024685.4(BBS10):c.2049T>A (p.Gly683=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1021415	NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp)	BBS10 (G683D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1454610	NM_024685.4(BBS10):c.2044dup (p.Met682fs)	BBS10 (M682fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 1542825	NM_024685.4(BBS10):c.2040A>G (p.Ser680=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3002102	NM_024685.4(BBS10):c.2039C>T (p.Ser680Leu)	BBS10 (S680L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2086515	NM_024685.4(BBS10):c.2031T>G (p.Gly677=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 556116	NM_024685.4(BBS10):c.2030G>T (p.Gly677Val)	BBS10 (G677V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 423236	NM_024685.4(BBS10):c.2030del (p.Gly677fs)	BBS10 (G677fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 3240869	NM_024685.4(BBS10):c.2026_2029del (p.Thr676fs)	BBS10 (T676fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679983	NM_024685.4(BBS10):c.2024dup (p.Thr676fs)	BBS10 (T676fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2132577	NM_024685.4(BBS10):c.2010C>T (p.Pro670=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2812989	NM_024685.4(BBS10):c.2004T>C (p.Asn668=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1038853	NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys)	BBS10 (N668K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1053917	NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser)	BBS10 (N668S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2105944	NM_024685.4(BBS10):c.2002A>G (p.Asn668Asp)	BBS10 (N668D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 882227	NM_024685.4(BBS10):c.1992A>G (p.Ala664=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2034841	NM_024685.4(BBS10):c.1989T>C (p.His663=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2062774	NM_024685.4(BBS10):c.1980A>T (p.Arg660Ser)	BBS10 (R660S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1588248	NM_024685.4(BBS10):c.1978A>C (p.Arg660=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2757588	NM_024685.4(BBS10):c.1971_1975del (p.Tyr658fs)	BBS10 (Y658fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 1977523	NM_024685.4(BBS10):c.1975A>G (p.Ile659Val)	BBS10 (I659V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 704965	NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)	BBS10 (I659L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +1 more	GConflicting classifications of pathogenicity
Select item 310488	NM_024685.4(BBS10):c.1974T>C (p.Tyr658=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +1 more	GConflicting classifications of pathogenicity
Select item 1014169	NM_024685.4(BBS10):c.1973A>G (p.Tyr658Cys)	BBS10 (Y658C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 310489	NM_024685.4(BBS10):c.1973A>T (p.Tyr658Phe)	BBS10 (Y658F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 1543179	NM_024685.4(BBS10):c.1971A>G (p.Thr657=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign

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