"Eurofins Ntd Llc (ga)"[submitter] AND "NHLRC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 289375	NM_198586.3(NHLRC1):c.740C>T (p.Ala247Val)	NHLRC1 (A247V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 193517	NM_198586.3(NHLRC1):c.664G>T (p.Glu222Ter)	NHLRC1 (E222*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 129767	NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)	NHLRC1 (P111L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 129766	NM_198586.3(NHLRC1):c.312T>C (p.His104=)	NHLRC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 138522	NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)	NHLRC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 286987	NM_198586.3(NHLRC1):c.153C>G (p.Cys51Trp)	NHLRC1 (C51W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193518	NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)	NHLRC1 (M16V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 167350	NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)	NHLRC1 (A11E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

ClinVar