"GeneDx"[submitter] AND "GRHPR"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1277648	NC_000009.12:g.37422523C>T	GRHPR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1248439	NC_000009.12:g.37422525del	GRHPR	Deletion (genic upstream transcript variant)	not provided	GBenign
Select item 1227967	NC_000009.12:g.37422525A>C	GRHPR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1236350	NC_000009.12:g.37422527A>C	GRHPR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1185158	NM_012203.2(GRHPR):c.-92C>T	GRHPR	Single nucleotide variant	not provided +1 more	GBenign
Select item 1226850	NC_000009.12:g.37422678C>A	GRHPR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
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 5636	NM_012203.2(GRHPR):c.103del (p.Asp35fs)	GRHPR (D35fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2572955	NM_012203.2(GRHPR):c.160G>A (p.Gly54Ser)	GRHPR (G54S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1278297	NM_012203.2(GRHPR):c.214+270C>G	GRHPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 961747	NM_012203.2(GRHPR):c.215-13_215-7del	GRHPR	Deletion (intron variant)	not provided	GUncertain significance
Select item 1249992	NM_012203.2(GRHPR):c.287+135G>C	GRHPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225392	NM_012203.2(GRHPR):c.287+161A>G	GRHPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 204220	NM_012203.2(GRHPR):c.288-11C>T	GRHPR	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 968445	NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys)	GRHPR (E131K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1281674	NM_012203.2(GRHPR):c.404+307dup	GRHPR	Duplication (intron variant)	not provided	GBenign
Select item 1233325	NM_012203.2(GRHPR):c.494-328C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279514	NM_012203.2(GRHPR):c.494-232C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GBenign
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 2500383	NM_012203.2(GRHPR):c.688TTC[1] (p.Phe231del)	GRHPR (F231del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 204253	NM_012203.2(GRHPR):c.694del (p.Gln232fs)	GRHPR (Q232fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 204225	NM_012203.2(GRHPR):c.734+9G>A	GRHPR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1207875	NM_012203.2(GRHPR):c.735-149A>G	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1314885	NM_012203.2(GRHPR):c.735G>T (p.Arg245Ser)	GRHPR (R245S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1228653	NM_012203.2(GRHPR):c.865+129T>C	GRHPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 204227	NM_012203.1(GRHPR):c.866-25CT[9]	GRHPR	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 427140	NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp)	GRHPR (G319W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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
Select item 366863	NM_012203.2(GRHPR):c.*146A>G	GRHPR	Single nucleotide variant (3 prime UTR variant)	Primary hyperoxaluria, type II +1 more	GBenign/Likely benign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 37