"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NHLRC1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 206196	NM_198586.3(NHLRC1):c.805G>A (p.Val269Met)	NHLRC1 (V269M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206190	NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys)	NHLRC1 (N227K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2682920	NM_198586.3(NHLRC1):c.431T>C (p.Val144Ala)	NHLRC1 (V144A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206188	NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala)	NHLRC1 (V141A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 129767	NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)	NHLRC1 (P111L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 129766	NM_198586.3(NHLRC1):c.312T>C (p.His104=)	NHLRC1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 138522	NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)	NHLRC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 449234	NM_198586.3(NHLRC1):c.178C>T (p.His60Tyr)	NHLRC1 (H60Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3379637	NM_198586.3(NHLRC1):c.85T>G (p.Cys29Gly)	NHLRC1 (C29G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167350	NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)	NHLRC1 (A11E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity