"GeneDx"[submitter] AND "HOXA11"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 58544	GRCh38/hg38 7p15.2(chr7:27154807-27422335)x1	EVX1, EVX1-AS +15 more	Copy number loss	See cases	GPathogenic
Select item 1271624	NM_005523.6(HOXA11):c.709+284G>A	HOXA11, LOC107126281	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426639	NM_005523.6(HOXA11):c.625G>A (p.Glu209Lys)	HOXA11, LOC107126281 (E209K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313875	NM_005523.6(HOXA11):c.353C>T (p.Pro118Leu)	HOXA11, LOC107126281 (P118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308754	NM_005523.6(HOXA11):c.348C>G (p.His116Gln)	HOXA11, LOC107126281 (H116Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310318	NM_005523.6(HOXA11):c.332C>T (p.Ser111Leu)	HOXA11, LOC107126281 (S111L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306559	NM_005523.6(HOXA11):c.152T>A (p.Leu51Gln)	HOXA11, LOC107126281 (L51Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271651	NC_000007.14:g.27185344T>C	HOXA11	Single nucleotide variant	not provided	GBenign
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic