C0752166[trait identifier] AND "Advanced Center For Translational And - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 431733	NC_000001.10:g.[5910699_6038368dup;6051187_6158763dup]	KCNAB2, NPHP4	Copy number gain	Bardet-Biedl syndrome	GLikely pathogenic
Select item 1477215	NM_152384.3(BBS5):c.226A>G (p.Ile76Val)	BBS5 (I76V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 812227	NM_152384.3(BBS5):c.619-1G>C	BBS5	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 431745	GRCh38/hg38 2q31.1(chr2:169498679-169508441)	BBS5, LOC129388940	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 431747	GRCh37/hg19 2q13(chr2:110875689-110967529)	NPHP1	Copy number loss	Bardet-Biedl syndrome	GPathogenic
Select item 431744	GRCh37/hg19 2p13.1(chr2:73617393-73789869)	ALMS1	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 431739	GRCh38/hg38 3q11.2(chr3:97779512-97864516)	ARL6, CRYBG3 +1 more	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 431740	GRCh38/hg38 3q11.2(chr3:97790061-97794169)	ARL6	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 431746	NM_176824.3(BBS7):c.1677-490_1804del	BBS7	Deletion (splice acceptor variant +1 more)	Bardet-Biedl syndrome	GLikely 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 940124	NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)	BBS7 (L23R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1147	NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	BBS12 (R355*)	Single nucleotide variant (nonsense)	Abnormal cardiovascular system morphology +5 more	GPathogenic
Select item 1440165	NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs)	BBS12 (C464fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 431748	GRCh38/hg38 9p21.2(chr9:27040565-27060992)	IFT74	Copy number loss	Bardet-Biedl syndrome 22 +1 more	GPathogenic/Likely pathogenic
Select item 431734	GRCh38/hg38 11q13.2(chr11:66507369-66525103)	ZDHHC24, LOC130006125 +2 more	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 431735	GRCh38/hg38 11q13.2(chr11:66520912-66526178)	BBS1, ZDHHC24	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 12143	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	BBS1, ZDHHC24 (M390R)	Single nucleotide variant (missense variant +1 more)	See cases +6 more	GPathogenic/Likely pathogenic
Select item 431737	GRCh38/hg38 11q13.2(chr11:66528892-66536798)	ZDHHC24, BBS1	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 431736	GRCh37/hg19 11q13.2(chr11:66290130-66305022)	BBS1	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 860963	NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)	BBS10 (V602L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 30818	NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)	BBS10 (C91W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 225010	NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	BBS10 (R49W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +10 more	GPathogenic/Likely pathogenic
Select item 431741	GRCh38/hg38 15q24.1(chr15:72708224-72714485)	BBS4	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 431742	GRCh38/hg38 15q24.1(chr15:72714229-72721948)	BBS4	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 431743	GRCh38/hg38 15q24.1(chr15:72714243-72720447)	BBS4	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
Select item 1606564	NM_033028.5(BBS4):c.332+8T>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 431738	GRCh38/hg38 16q13(chr16:56496014-56504285)	BBS2	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic

ClinVar

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Items: 27