"HOXA11-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048034	NM_005523.6(HOXA11):c.714C>A (p.Gly238=)	HOXA11	Single nucleotide variant (synonymous variant)	HOXA11-related disorder	GLikely benign
Select item 3050064	NM_005523.6(HOXA11):c.609G>T (p.Thr203=)	HOXA11, LOC107126281	Single nucleotide variant (synonymous variant)	HOXA11-related disorder	GLikely benign
Select item 3056914	NM_005523.6(HOXA11):c.531GGC[4] (p.Ala183del)	HOXA11, LOC107126281 (A183del)	Microsatellite (inframe_indel +1 more)	HOXA11-related disorder	GLikely benign
Select item 3031634	NM_005523.6(HOXA11):c.519G>T (p.Thr173=)	HOXA11, LOC107126281	Single nucleotide variant (synonymous variant)	HOXA11-related disorder	GLikely benign
Select item 2443145	NM_005523.6(HOXA11):c.512C>A (p.Ala171Glu)	HOXA11, LOC107126281 (A171E)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GLikely benign
Select item 2630820	NM_005523.6(HOXA11):c.509C>A (p.Pro170Gln)	HOXA11, LOC107126281 (P170Q)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GUncertain significance
Select item 1675087	NM_005523.6(HOXA11):c.396G>C (p.Arg132Ser)	HOXA11, LOC107126281 (R132S)	Single nucleotide variant (missense variant)	HOXA11-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3032005	NM_005523.6(HOXA11):c.391G>A (p.Gly131Ser)	HOXA11, LOC107126281 (G131S)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GUncertain significance
Select item 3041106	NM_005523.6(HOXA11):c.289_297del (p.Pro97_Ala99del)	HOXA11, LOC107126281	Deletion (inframe deletion +1 more)	HOXA11-related disorder	GBenign
Select item 3034459	NM_005523.6(HOXA11):c.295G>A (p.Ala99Thr)	HOXA11, LOC107126281 (A99T)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GLikely benign
Select item 3058476	NM_005523.6(HOXA11):c.238G>A (p.Ala80Thr)	HOXA11, LOC107126281 (A80T)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GLikely benign
Select item 3033369	NM_005523.6(HOXA11):c.236T>C (p.Leu79Pro)	HOXA11, LOC107126281 (L79P)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GLikely benign
Select item 2636348	NM_005523.6(HOXA11):c.169G>A (p.Val57Met)	HOXA11, LOC107126281 (V57M)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GUncertain significance
Select item 3055737	NM_005523.6(HOXA11):c.149A>G (p.Asn50Ser)	HOXA11, LOC107126281 (N50S)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GUncertain significance
Select item 2632062	NM_005523.6(HOXA11):c.124C>G (p.Pro42Ala)	HOXA11, LOC107126281 (P42A)	Single nucleotide variant (missense variant)	HOXA11-related disorder	GUncertain significance