"GeneDx"[submitter] AND "HOXA13"[gene] - ClinVar - NCBI

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Items: 18

	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 3363538	NM_000522.5(HOXA13):c.1089G>A (p.Glu363=)	HOXA13	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2574987	NM_000522.5(HOXA13):c.1085C>A (p.Ser362Tyr)	HOXA13 (S362Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303439	NM_000522.5(HOXA13):c.962G>A (p.Arg321Lys)	HOXA13 (R321K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295094	NM_000522.5(HOXA13):c.922+84G>C	HOXA13, LOC107126288	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3284628	NM_000522.5(HOXA13):c.551T>A (p.Met184Lys)	HOXA13, LOC107126288 (M184K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1306688	NM_000522.5(HOXA13):c.527G>A (p.Ser176Asn)	HOXA13, LOC107126288 (S176N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1256735	NM_000522.5(HOXA13):c.504G>A (p.Ala168=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1306139	NM_000522.5(HOXA13):c.499G>T (p.Ala167Ser)	HOXA13, LOC107126288 (A167S)	Single nucleotide variant (missense variant)	Guttmacher syndrome +2 more	GUncertain significance
Select item 1268863	NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr)	HOXA13, LOC107126288 (P166T)	Single nucleotide variant (missense variant)	Guttmacher syndrome +2 more	GBenign
Select item 1309583	NM_000522.5(HOXA13):c.481C>T (p.Gln161Ter)	HOXA13, LOC107126288 (Q161*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591912	NM_000522.5(HOXA13):c.357_392del (p.Ala122_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3343220	NM_000522.5(HOXA13):c.352G>A (p.Ala118Thr)	HOXA13, LOC107126288 (A118T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307668	NM_000522.5(HOXA13):c.263G>A (p.Arg88His)	HOXA13, LOC107126288 (R88H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1262179	NC_000007.14:g.27200398dup	HOXA13, LOC107126288	Duplication	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
Select item 3360712	NM_000522.5(HOXA13):c.622G>C (p.Asp208His)	HOXA13 (D208H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance