"Baylor Genetics"[submitter] AND "GRHPR"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 842547	NM_012203.2(GRHPR):c.83+1G>C	GRHPR	Single nucleotide variant (splice donor variant)	not provided +1 more	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 2101269	NM_012203.2(GRHPR):c.102_112del (p.Trp34_Glu38delinsTer)	GRHPR	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2078185	NM_012203.2(GRHPR):c.100del (p.Trp34fs)	GRHPR (W34fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely 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 5636	NM_012203.2(GRHPR):c.103del (p.Asp35fs)	GRHPR (D35fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 632541	NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)	GRHPR (R47*)	Single nucleotide variant (nonsense)	GRHPR-related disorder +2 more	GPathogenic/Likely 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 371394	NM_012203.2(GRHPR):c.228dup (p.Val77fs)	GRHPR (V77fs)	Duplication (frameshift 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 2817688	NM_012203.2(GRHPR):c.259del (p.His87fs)	GRHPR (H87fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II +1 more	GPathogenic/Likely pathogenic
Select item 2664101	NM_012203.2(GRHPR):c.271del (p.Asp91fs)	GRHPR (D91fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 5637	NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)	GRHPR (R99*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria +2 more	GPathogenic
Select item 371535	NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter)	GRHPR (E113*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188765	NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)	GRHPR (E113K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2078815	NM_012203.2(GRHPR):c.370C>T (p.Arg124Cys)	GRHPR (R124C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 915248	NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln)	GRHPR (R125Q)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II +1 more	GUncertain significance
Select item 204250	NM_012203.2(GRHPR):c.404+3_404+6del	GRHPR	Microsatellite (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 548673	NM_012203.2(GRHPR):c.404+5G>A	GRHPR	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely 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 371124	NM_012203.2(GRHPR):c.441_442del (p.Cys147fs)	GRHPR (C147fs)	Microsatellite (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 371016	NM_012203.2(GRHPR):c.454dup (p.Thr152fs)	GRHPR (T152fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204234	NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg)	GRHPR (G160R)	Single nucleotide variant (missense variant)	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 204243	NM_012203.2(GRHPR):c.493+2T>A	GRHPR	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204235	NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)	GRHPR (G165D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II +2 more	GPathogenic
Select item 1069746	NM_012203.2(GRHPR):c.589del (p.Ala197fs)	GRHPR (A197fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely 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 555266	NM_012203.2(GRHPR):c.599-1G>C	GRHPR	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 599224	NM_012203.2(GRHPR):c.617_671del (p.Ala206fs)	GRHPR (A206fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II +1 more	GPathogenic/Likely pathogenic
Select item 2067052	NM_012203.2(GRHPR):c.626C>T (p.Ser209Phe)	GRHPR (S209F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 204253	NM_012203.2(GRHPR):c.694del (p.Gln232fs)	GRHPR (Q232fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 650172	NM_012203.2(GRHPR):c.734+1G>A	GRHPR	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675952	NM_012203.2(GRHPR):c.737dup	GRHPR	Duplication	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 204244	NM_012203.2(GRHPR):c.735-1G>A	GRHPR	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely 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 3241722	NM_012203.2(GRHPR):c.847del (p.Leu282_Leu283insTer)	GRHPR	Deletion (nonsense)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 162020	NM_012203.2(GRHPR):c.866_867del (p.Val289fs)	GRHPR (V289fs)	Microsatellite (frameshift variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 556976	NM_012203.2(GRHPR):c.863del (p.Cys288fs)	GRHPR (C288fs)	Deletion (frameshift 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 2675951	NM_012203.2(GRHPR):c.865+2T>C	GRHPR	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 557542	NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs)	GRHPR (L291fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GConflicting classifications of pathogenicity
Select item 162022	NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)	GRHPR (R302C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204237	NM_012203.2(GRHPR):c.905G>A (p.Arg302His)	GRHPR (R302H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 204238	NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp)	GRHPR (N312D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 557220	NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)	GRHPR (E320*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49