"Sema4, Sema4"[submitter] AND "HOXB13"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 182504	NM_006361.6(HOXB13):c.735G>A (p.Lys245=)	HOXB13	Single nucleotide variant (synonymous variant)	HOXB13-related condition +4 more	GBenign/Likely benign
Select item 826676	NM_006361.6(HOXB13):c.686G>A (p.Arg229Gln)	HOXB13 (R229Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 128036	NM_006361.6(HOXB13):c.634G>A (p.Ala212Thr)	HOXB13 (A212T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 483477	NM_006361.6(HOXB13):c.610G>A (p.Gly204Arg)	HOXB13 (G204R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 182503	NM_006361.6(HOXB13):c.602-9G>A	HOXB13	Single nucleotide variant (intron variant)	HOXB13-related condition +4 more	GBenign/Likely benign
Select item 1104416	NM_006361.6(HOXB13):c.601+7C>G	HOXB13	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 483479	NM_006361.6(HOXB13):c.474G>A (p.Pro158=)	HOXB13	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 483476	NM_006361.6(HOXB13):c.411C>T (p.Tyr137=)	HOXB13	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 823942	NM_006361.6(HOXB13):c.356A>T (p.Glu119Val)	HOXB13 (E119V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1692917	NM_006361.6(HOXB13):c.288G>A (p.Ser96=)	HOXB13	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 483507	NM_006361.6(HOXB13):c.258G>C (p.Gly86=)	HOXB13	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 483522	NM_006361.6(HOXB13):c.253G>A (p.Gly85Ser)	HOXB13 (G85S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1692916	NM_006361.6(HOXB13):c.195A>G (p.Pro65=)	HOXB13	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 483485	NM_006361.6(HOXB13):c.6G>A (p.Glu2=)	HOXB13	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity