"PreventionGenetics, part of Exact Sciences"[submitter] AND "GRHPR"[ge - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049983	NM_012203.2(GRHPR):c.-4G>A	GRHPR	Single nucleotide variant (5 prime UTR variant)	GRHPR-related disorder	GLikely benign
Select item 3049815	NM_012203.2(GRHPR):c.-3C>T	GRHPR	Single nucleotide variant (5 prime UTR variant)	GRHPR-related disorder	GLikely benign
Select item 366851	NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe)	GRHPR (L6F)	Single nucleotide variant (missense variant)	GRHPR-related disorder +2 more	GBenign/Likely benign
Select item 632541	NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)	GRHPR (R47*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type II +2 more	GPathogenic/Likely pathogenic
Select item 991671	NM_012203.2(GRHPR):c.252C>A (p.Gly84=)	GRHPR	Single nucleotide variant (synonymous variant)	GRHPR-related disorder +1 more	GLikely benign
Select item 366852	NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)	GRHPR (R96C)	Single nucleotide variant (missense variant)	GRHPR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 204220	NM_012203.2(GRHPR):c.288-11C>T	GRHPR	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type II +2 more	GBenign
Select item 260213	NM_012203.2(GRHPR):c.493+9C>T	GRHPR	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 204235	NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)	GRHPR (G165D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +3 more	GPathogenic
Select item 366856	NM_012203.2(GRHPR):c.512G>A (p.Arg171His)	GRHPR (R171H)	Single nucleotide variant (missense variant)	GRHPR-related disorder +2 more	GBenign/Likely benign
Select item 21490	NM_012203.2(GRHPR):c.579A>G (p.Ala193=)	GRHPR	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 204227	NM_012203.1(GRHPR):c.866-25CT[9]	GRHPR	Microsatellite (intron variant)	not provided +1 more	GBenign