"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130000338" - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 363209	NM_182746.3(MCM4):c.-48G>T	LOC130000338, MCM4	Single nucleotide variant (5 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 911894	NM_182746.3(MCM4):c.-33A>G	MCM4, LOC130000338	Single nucleotide variant (5 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 911895	NM_182746.3(MCM4):c.-15+55C>T	MCM4, LOC130000338	Single nucleotide variant (5 prime UTR variant +1 more)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363210	NM_182746.3(MCM4):c.-14-50G>A	MCM4, LOC130000338	Single nucleotide variant (intron variant +1 more)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363211	NM_182746.3(MCM4):c.-14-41C>T	LOC130000338, MCM4	Single nucleotide variant (5 prime UTR variant +1 more)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GBenign
Select item 908950	NM_182746.3(MCM4):c.-14-39G>A	LOC130000338, MCM4	Single nucleotide variant (5 prime UTR variant +1 more)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 626134	NM_182746.3(MCM4):c.31C>G (p.Arg11Gly)	LOC130000338, MCM4 (R11G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance