"GeneDx"[submitter] AND "BLOC1S6"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1207080	NC_000015.10:g.45587074T>G	BLOC1S6, LOC130057002	Single nucleotide variant	not provided	GLikely benign
Select item 1277844	NM_012388.4(BLOC1S6):c.82+280T>C	BLOC1S6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1308509	NM_012388.4(BLOC1S6):c.210_211dup (p.Leu71fs)	BLOC1S6 (L71fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1245066	NM_012388.4(BLOC1S6):c.224+48G>T	BLOC1S6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244276	NM_012388.4(BLOC1S6):c.224+52C>T	BLOC1S6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282882	NM_012388.4(BLOC1S6):c.224+205C>T	BLOC1S6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185979	NM_012388.4(BLOC1S6):c.225-260A>G	BLOC1S6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1444501	NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs)	BLOC1S6 (Y111fs +2 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1706162	NM_012388.4(BLOC1S6):c.399+73dup	BLOC1S6	Duplication (intron variant)	not provided	GLikely benign
Select item 1294982	NM_012388.4(BLOC1S6):c.399+73del	BLOC1S6	Deletion (intron variant)	not provided	GBenign
Select item 1190387	NM_012388.4(BLOC1S6):c.399+137G>A	BLOC1S6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258008	NM_012388.4(BLOC1S6):c.400-95A>G	BLOC1S6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1450432	NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln)	BLOC1S6 (R159Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1262689	NM_012388.4(BLOC1S6):c.*171A>T	BLOC1S6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1287229	NM_012388.4(BLOC1S6):c.*188T>C	BLOC1S6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance