"GeneDx"[submitter] AND "CYP51A1"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136345	NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val)	AKAP9, CYP51A1 (M3614V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 11 +6 more	GBenign/Likely benign
Select item 1193231	NM_000786.4(CYP51A1):c.*280T>C	CYP51A1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1282602	NM_000786.4(CYP51A1):c.*251G>C	CYP51A1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 677167	NM_000786.4(CYP51A1):c.1359T>C (p.His453=)	CYP51A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1202897	NM_000786.4(CYP51A1):c.1352-246A>G	CYP51A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270562	NM_000786.4(CYP51A1):c.1183-201A>G	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286376	NM_000786.4(CYP51A1):c.1182+175A>G	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225466	NM_000786.4(CYP51A1):c.891-61G>T	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1367270	NM_000786.4(CYP51A1):c.829C>T (p.Arg277Cys)	CYP51A1 (R172C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201357	NM_000786.4(CYP51A1):c.771-189A>G	CYP51A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195091	NM_000786.4(CYP51A1):c.770+114G>A	CYP51A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231763	NM_000786.4(CYP51A1):c.595+66A>G	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211913	NM_000786.4(CYP51A1):c.469-297T>A	CYP51A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247337	NM_000786.4(CYP51A1):c.468+83T>C	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230853	NM_000786.4(CYP51A1):c.292-15C>T	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274115	NM_000786.4(CYP51A1):c.292-52G>T	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242904	NM_000786.4(CYP51A1):c.291+206C>T	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262944	NM_000786.4(CYP51A1):c.291+124G>A	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275629	NM_000786.4(CYP51A1):c.291+25dup	CYP51A1	Duplication (intron variant)	not provided	GBenign
Select item 1243649	NM_000786.4(CYP51A1):c.291+25_291+26dup	CYP51A1	Duplication (intron variant)	not provided	GBenign
Select item 1210585	NM_000786.4(CYP51A1):c.291+25_291+27dup	CYP51A1	Duplication (intron variant)	not provided	GLikely benign
Select item 1198606	NM_000786.4(CYP51A1):c.291+35A>C	CYP51A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230181	NM_000786.4(CYP51A1):c.193-47T>C	CYP51A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233108	NM_000786.4(CYP51A1):c.193-120del	CYP51A1	Deletion (intron variant)	not provided	GBenign
Select item 1691580	NM_000786.4(CYP51A1):c.-49T>C	CYP51A1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1194527	NM_001146152.2(CYP51A1):c.-198G>A	CYP51A1, CYP51A1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1250224	NM_001146152.2(CYP51A1):c.-246G>A	CYP51A1, CYP51A1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1279584	NC_000007.14:g.92134814C>A	CYP51A1, CYP51A1-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1676394	NM_000786.4(CYP51A1):c.1291C>T (p.Arg431Cys)	CYP51A1 (R326C +1 more)	Single nucleotide variant	not provided	GUncertain significance

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Items: 29