"Eurofins Ntd Llc (ga)"[submitter] AND "BBS12"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96504	NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)	BBS12 (I39T)	Single nucleotide variant (missense variant)	not specified +4 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 497981	NM_152618.3(BBS12):c.841A>T (p.Ser281Cys)	BBS12 (S281C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195413	NM_152618.3(BBS12):c.978T>A (p.Thr326=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 195412	NM_152618.3(BBS12):c.979T>A (p.Ser327Thr)	BBS12 (S327T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 501682	NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu)	BBS12 (K379E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 166725	NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)	BBS12 (R386Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +4 more	GBenign
Select item 281597	NM_152618.3(BBS12):c.1198G>A (p.Val400Met)	BBS12 (V400M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
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 166727	NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)	BBS12 (D467N)	Single nucleotide variant (missense variant)	not specified +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 166729	NM_152618.3(BBS12):c.1506C>T (p.Ala502=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 595422	NM_152618.3(BBS12):c.1658T>A (p.Leu553His)	BBS12 (L553H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 195415	NM_152618.3(BBS12):c.1704G>A (p.Trp568Ter)	BBS12 (W568*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 283879	NM_152618.3(BBS12):c.1849A>G (p.Thr617Ala)	BBS12 (T617A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 166730	NM_152618.3(BBS12):c.1872A>G (p.Gln624=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
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 195414	NM_152618.3(BBS12):c.2021G>A (p.Arg674His)	BBS12 (R674H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 21