"GeneDx"[submitter] AND "HBA1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 15624	NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)	HBA1, HBA2 +1 more	Single nucleotide variant (stop lost)	alpha Thalassemia +1 more	GPathogenic
Select item 1226713	NC_000016.10:g.176440C>T	HBA1, LOC106804613	Single nucleotide variant	not provided	GBenign
Select item 439096	NM_000558.5(HBA1):c.-24C>G	LOC106804613, HBA1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 439103	NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)	HBA1, LOC106804613 (W15R)	Single nucleotide variant (missense variant)	alpha Thalassemia +1 more	GPathogenic/Likely pathogenic
Select item 439106	NM_000558.5(HBA1):c.95+39C>T	LOC106804613, HBA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 15858	NM_000558.5(HBA1):c.113CCA[2] (p.Thr40del)	HBA1, LOC106804613 (T40del)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 619842	NM_000558.5(HBA1):c.237del (p.Asn79fs)	HBA1, LOC106804613 (N79fs)	Deletion (frameshift variant)	HBA1-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 439768	NM_000558.5(HBA1):c.300+55G>T	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811900	NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	HBA1, LOC106804613 (P120S)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 811573	NC_000016.10:g.177694A>G	HBA1	Single nucleotide variant	not provided	GBenign
Select item 253807	GRCh37/hg19 16p13.3(chr16:216724-340009)x3	HBA2, HBM +8 more	Copy number gain	See cases	GUncertain significance
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic