trachyzelotes barbat - ClinVar - NCBI

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Items: 8

The following term was not found in ClinVar: trachyzelotes.
Showing results for Trachyzelotes barbatus. Your search for Trachyzelotes barbatus retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 242761	NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)	CYP21A2, LOC106780800 (I237N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1723345	NM_000500.9(CYP21A2):c.[710T>A;713T>A]	CYP21A2, LOC106780800 (V238E +5 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 1723344	NM_000500.9(CYP21A2):c.[713T>A;719T>A]	CYP21A2, LOC106780800 (V238E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 31662	NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A]	CYP21A2, LOC106780800 (V238E +8 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 12173	NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)	CYP21A2, LOC106780800 (V238E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1723343	NM_000500.9(CYP21A2):c.[710T>A;719T>A]	CYP21A2, LOC106780800 (M240K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242688	NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)	CYP21A2, LOC106780800 (M240K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 12151	NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	CYP21A2, LOC106780800 (V282L +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +3 more	GPathogenic/Likely pathogenic