"Genome-Nilou Lab"[submitter] AND "GRHPR"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185158	NM_012203.2(GRHPR):c.-92C>T	GRHPR	Single nucleotide variant	not provided +1 more	GBenign
Select item 554025	NM_012203.2(GRHPR):c.1A>G (p.Met1Val)	GRHPR (M1V)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria, type II	GPathogenic/Likely pathogenic
Select item 366851	NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe)	GRHPR (L6F)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II +1 more	GBenign/Likely benign
Select item 366852	NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)	GRHPR (R96C)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II +1 more	GConflicting classifications of pathogenicity
Select item 204220	NM_012203.2(GRHPR):c.288-11C>T	GRHPR	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185159	NM_012203.2(GRHPR):c.404+153T>C	GRHPR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185160	NM_012203.2(GRHPR):c.404+291T>C	GRHPR	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type II +1 more	GBenign
Select item 366855	NM_012203.2(GRHPR):c.468C>T (p.Val156=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 204222	NM_012203.2(GRHPR):c.494-68A>G	GRHPR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 21490	NM_012203.2(GRHPR):c.579A>G (p.Ala193=)	GRHPR	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type II +2 more	GBenign
Select item 204229	NM_012203.2(GRHPR):c.963G>A (p.Pro321=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign