"GeneDx"[submitter] AND "HOXA4"[gene] - ClinVar - NCBI

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Items: 14

	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 1278464	NM_002141.5(HOXA4):c.*332G>C	HOXA3, HOXA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1270022	NM_002141.5(HOXA4):c.*254T>C	HOXA3, HOXA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1182927	NM_002141.5(HOXA4):c.*125G>A	HOXA3, HOXA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1256657	NM_002141.5(HOXA4):c.714A>C (p.Arg238=)	HOXA4, HOXA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1244153	NM_002141.5(HOXA4):c.617-179A>G	HOXA3, HOXA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266176	NM_002141.5(HOXA4):c.617-198T>G	HOXA3, HOXA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268576	NM_002141.5(HOXA4):c.616+120A>G	HOXA4, HOXA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231880	NM_002141.5(HOXA4):c.419T>C (p.Leu140Pro)	HOXA3, HOXA4 (L140P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1269767	NM_002141.5(HOXA4):c.208A>C (p.Thr70Pro)	HOXA3, HOXA4 (T70P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1237183	NM_002141.5(HOXA4):c.194G>A (p.Gly65Asp)	HOXA3, HOXA4 (G65D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1259086	NC_000007.14:g.27130964C>T	HOXA3, HOXA4 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224804	NC_000007.14:g.27131087G>A	HOXA3, HOXA4	Single nucleotide variant (intron 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