"GeneDx"[submitter] AND "BHLHA9"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 59559	GRCh38/hg38 17p13.3(chr17:855404-1345517)x1	ABR, ABR-AS1 +19 more	Copy number loss	See cases	GPathogenic
Select item 1262831	NM_001164405.2(BHLHA9):c.-68A>G	BHLHA9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3340796	NM_001164405.2(BHLHA9):c.-26G>A	BHLHA9	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1306608	NM_001164405.2(BHLHA9):c.140G>T (p.Gly47Val)	BHLHA9 (G47V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185322	NM_001164405.2(BHLHA9):c.237A>G (p.Leu79=)	BHLHA9	Single nucleotide variant (synonymous variant)	Camptosynpolydactyly, complex +2 more	GBenign
Select item 1309911	NM_001164405.2(BHLHA9):c.251C>G (p.Ala84Gly)	BHLHA9 (A84G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309816	NM_001164405.2(BHLHA9):c.251C>T (p.Ala84Val)	BHLHA9 (A84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780387	NM_001164405.2(BHLHA9):c.453C>T (p.Ser151=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1202456	NM_001164405.2(BHLHA9):c.475A>G (p.Ser159Gly)	BHLHA9 (S159G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729198	NM_001164405.2(BHLHA9):c.507G>T (p.Ser169=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1193505	NM_001164405.2(BHLHA9):c.*28A>T	BHLHA9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1211211	NM_001164405.2(BHLHA9):c.*168G>A	BHLHA9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1707218	NM_001164405.2(BHLHA9):c.*241G>T	BHLHA9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1215317	NM_001164405.2(BHLHA9):c.*296G>A	BHLHA9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 253951	GRCh37/hg19 17p13.3(chr17:1061693-1256253)x3	BHLHA9, TRARG1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253899	GRCh37/hg19 17p13.3(chr17:1061693-1264288)x3	BHLHA9, TRARG1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253702	GRCh37/hg19 17p13.3(chr17:901963-1193424)x3	ABR, BHLHA9 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253567	GRCh37/hg19 17p13.3(chr17:1145504-1445005)x3	TRARG1, YWHAE +5 more	Copy number gain	See cases	GPathogenic
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253349	GRCh37/hg19 17p13.3(chr17:961016-1641881)x3	ABR, BHLHA9 +13 more	Copy number gain	See cases	GLikely pathogenic

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Items: 22