"PreventionGenetics, part of Exact Sciences"[submitter] AND "HOXA2"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359966	NM_005522.5(HOXA1):c.213C>T (p.His71=)	HOXA1, HOXA2	Single nucleotide variant (synonymous variant)	Human HOXA1 syndromes +4 more	GBenign/Likely benign
Select item 2636376	NM_006735.4(HOXA2):c.1009T>A (p.Ser337Thr)	HOXA2 (S337T)	Single nucleotide variant (missense variant)	HOXA2-related disorder	GUncertain significance
Select item 3052799	NM_006735.4(HOXA2):c.1006C>A (p.Leu336Ile)	HOXA2 (L336I)	Single nucleotide variant (missense variant)	HOXA2-related disorder	GLikely benign
Select item 3035843	NM_006735.4(HOXA2):c.954G>A (p.Glu318=)	HOXA2	Single nucleotide variant (synonymous variant)	HOXA2-related disorder	GLikely benign
Select item 3036994	NM_006735.4(HOXA2):c.879T>G (p.Thr293=)	HOXA2	Single nucleotide variant (synonymous variant)	HOXA2-related disorder	GLikely benign
Select item 3040678	NM_006735.4(HOXA2):c.865C>T (p.His289Tyr)	HOXA2 (H289Y)	Single nucleotide variant (missense variant)	HOXA2-related disorder	GLikely benign
Select item 2632947	NM_006735.4(HOXA2):c.687_691del (p.Glu229fs)	HOXA2 (E229fs)	Microsatellite (frameshift variant)	HOXA2-related disorder	GPathogenic
Select item 3036702	NM_006735.4(HOXA2):c.597G>A (p.Lys199=)	HOXA2	Single nucleotide variant (synonymous variant)	HOXA2-related disorder	GLikely benign
Select item 3029050	NM_006735.4(HOXA2):c.391+10A>C	HOXA2	Single nucleotide variant (intron variant)	HOXA2-related disorder	GLikely benign
Select item 2631989	NM_006735.4(HOXA2):c.334GCC[3] (p.Ala115_Ala117del)	HOXA2	Microsatellite (inframe_deletion)	HOXA2-related disorder	GUncertain significance
Select item 3045879	NM_006735.4(HOXA2):c.256C>A (p.Pro86Thr)	HOXA2 (P86T)	Single nucleotide variant (missense variant)	HOXA2-related disorder	GUncertain significance