"GeneDx"[submitter] AND "LOC106804612"[gene] - ClinVar - NCBI

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Items: 14

	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 1267676	NM_000517.6(HBA2):c.-43G>C	HBA2, LOC106804612	Single nucleotide variant	not provided	GBenign
Select item 439113	NM_000517.6(HBA2):c.-24C>G	LOC106804612, HBA2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 280127	NM_000517.6(HBA2):c.60del (p.His21fs)	HBA2, LOC106804612 (H21fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 375746	NM_000517.6(HBA2):c.95+2_95+6del	HBA2, LOC106804612	Deletion (splice donor variant)	Erythrocytosis, familial, 7 +4 more	GPathogenic
Select item 15636	NM_000517.4(HBA2):c.142G>C (p.Asp48His)	HBA2, LOC106804612 (D48H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 439769	NM_000517.6(HBA2):c.300+55T>G	LOC106804612, HBA2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 15630	NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	HBA2, LOC106804612 (L126P)	Single nucleotide variant (missense variant)	alpha Thalassemia +4 more	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 15647	NM_000517.6(HBA2):c.*92A>G	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 375749	NM_000517.6(HBA2):c.*94A>G	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 7 +5 more	GPathogenic
Select item 439108	NM_000517.6(HBA2):c.*107A>G	HBA2, LOC106804612	Single nucleotide variant (3 prime UTR variant)	alpha Thalassemia +3 more	GBenign