"GeneDx"[submitter] AND "BBS12"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 1242472	NM_152618.3(BBS12):c.-10-198T>A	BBS12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174029	NM_152618.3(BBS12):c.-10-41A>T	BBS12	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 12 +1 more	GBenign
Select item 262675	NM_152618.3(BBS12):c.51A>G (p.Gln17=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 585191	NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)	BBS12 (F22S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 215969	NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)	BBS12 (N71S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 262674	NM_152618.3(BBS12):c.378G>T (p.Glu126Asp)	BBS12 (E126D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GBenign/Likely benign
Select item 1150	NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)	BBS12 (A289P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +3 more	GConflicting classifications of pathogenicity
Select item 262668	NM_152618.3(BBS12):c.1062G>C (p.Val354=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +4 more	GBenign
Select item 1151	NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)	BBS12	Deletion (nonsense)	Bardet-Biedl syndrome +3 more	GPathogenic/Likely pathogenic
Select item 550386	NM_152618.3(BBS12):c.1151del (p.Ser384fs)	BBS12 (S384fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 166725	NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)	BBS12 (R386Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 2629458	NM_152618.3(BBS12):c.1159C>T (p.Leu387Phe)	BBS12 (L387F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1310095	NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter)	BBS12 (S392*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 262669	NM_152618.3(BBS12):c.1200G>A (p.Val400=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 12 +3 more	GBenign
Select item 262670	NM_152618.3(BBS12):c.1209G>A (p.Val403=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 195416	NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)	BBS12 (S429T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 166726	NM_152618.3(BBS12):c.1380G>C (p.Val460=)	BBS12	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 100564	NM_152618.3(BBS12):c.1381A>C (p.Asn461His)	BBS12 (N461H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +4 more	GBenign/Likely benign
Select item 1011082	NM_152618.3(BBS12):c.1390T>C (p.Cys464Arg)	BBS12 (C464R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 262672	NM_152618.3(BBS12):c.1398C>T (p.Gly466=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 166727	NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)	BBS12 (D467N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GBenign
Select item 166728	NM_152618.3(BBS12):c.1410C>T (p.Cys470=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 347503	NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)	BBS12 (V500A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 585190	NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	BBS12 (T501M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 425337	NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser)	BBS12 (A502S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 389871	NM_152618.3(BBS12):c.1507G>T (p.Val503Leu)	BBS12 (V503L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 434492	NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)	BBS12	Deletion (inframe_deletion)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 434490	NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)	BBS12 (Q620R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +4 more	GUncertain significance
Select item 990257	NM_152618.3(BBS12):c.1907T>C (p.Ile636Thr)	BBS12 (I636T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +1 more	GUncertain significance
Select item 662874	NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)	BBS12 (P660L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +2 more	GUncertain significance
Select item 695206	NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr)	BBS12 (A672T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 281596	NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)	BBS12 (R674C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 572304	NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs)	BBS12 (D687fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 858778	NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)	BBS12 (T705M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 347509	NM_152618.3(BBS12):c.*248G>A	BBS12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 37