Related gene-specific medical variations for Gene (Select 9380) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359190	NM_012203.2(GRHPR):c.359T>C (p.Leu120Pro)	GRHPR (L120P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 3359189	NM_012203.2(GRHPR):c.805G>C (p.Asp269His)	GRHPR (D269H)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 3359188	NM_012203.2(GRHPR):c.419C>T (p.Ser140Leu)	GRHPR (S140L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 3359187	NM_012203.2(GRHPR):c.866_867delTG	GRHPR	Deletion (splice acceptor variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 3245344	NC_000009.11:g.(?_37422744)_(37436779_?)del	GRHPR	Deletion	not provided	GPathogenic
Select item 3241722	NM_012203.2(GRHPR):c.847del (p.Leu282_Leu283insTer)	GRHPR	Deletion (nonsense)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 3241721	NM_012203.2(GRHPR):c.493+1G>A	GRHPR	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 3241720	NM_012203.2(GRHPR):c.422G>A (p.Trp141Ter)	GRHPR (W141*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2675955	NM_012203.2(GRHPR):c.599-1G>A	GRHPR	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2675954	NM_012203.2(GRHPR):c.251del (p.Gly84fs)	GRHPR (G84fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2675953	NM_012203.2(GRHPR):c.175del (p.Leu59fs)	GRHPR (L59fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2675952	NM_012203.2(GRHPR):c.737dup	GRHPR	Duplication	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2675951	NM_012203.2(GRHPR):c.865+2T>C	GRHPR	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2675950	NM_012203.2(GRHPR):c.779dup (p.Ser260fs)	GRHPR (S260fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2675949	NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter)	GRHPR (W34*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2675948	NM_012203.2(GRHPR):c.83+1G>A	GRHPR	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2675947	NM_012203.2(GRHPR):c.865+1del	GRHPR	Deletion (splice donor variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2675946	NM_012203.2(GRHPR):c.675_676del (p.Cys226fs)	GRHPR (C226fs)	Microsatellite (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2675945	NM_012203.2(GRHPR):c.94_97dup (p.Gln33fs)	GRHPR (Q33fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2664502	NG_008135.1:g.888_8892delins7465_7744	GRHPR	Indel	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2664425	Multiple alleles	GRHPR (R124fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2664100	NM_012203.2:c.215_493del	GRHPR	Deletion	Primary hyperoxaluria, type II	GPathogenic
Select item 991673	NM_012203.2(GRHPR):c.874C>T (p.Pro292Ser)	GRHPR (P292S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 991668	NM_012203.2(GRHPR):c.14G>A (p.Arg5Gln)	GRHPR (R5Q)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 984728	NM_012203.2(GRHPR):c.356_369dup (p.Arg124fs)	GRHPR (R124fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 984727	NG_008135.1:g.8888_8892delins7465_7744	GRHPR	Indel	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 592073	NM_012203.2(GRHPR):c.748A>T (p.Asn250Tyr)	GRHPR (N250Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242573	NM_012203.2(GRHPR):c.84-13_84-12del	GRHPR	Deletion (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 204248	Multiple alleles	GRHPR (R124fs)	Indel (frameshift variant)	Primary hyperoxaluria, type II	GPathogenic

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Links from Gene

Items: 29