C0268165[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 204230	NM_012203.2(GRHPR):c.-4_-3delinsAT	GRHPR	Indel (5 prime UTR variant)	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 991670	NM_012203.2(GRHPR):c.108G>A (p.Ser36=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 913618	NM_012203.2(GRHPR):c.149C>T (p.Ala50Val)	GRHPR (A50V)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II +2 more	GUncertain significance
Select item 371365	NM_012203.2(GRHPR):c.154del (p.Ala52fs)	GRHPR (A52fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1159513	NM_012203.2(GRHPR):c.180C>T (p.Ser60=)	GRHPR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 371598	NM_012203.2(GRHPR):c.214+2T>G	GRHPR	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 1167523	NM_012203.2(GRHPR):c.234C>T (p.Ile78=)	GRHPR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GBenign/Likely benign
Select item 555539	NM_012203.2(GRHPR):c.286_287+1del	GRHPR	Deletion (splice donor variant)	not specified +1 more	GUncertain significance
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 796573	NM_012203.2(GRHPR):c.342C>T (p.Leu114=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1130501	NM_012203.2(GRHPR):c.345A>T (p.Ala115=)	GRHPR	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type II +1 more	GLikely benign
Select item 736923	NM_012203.2(GRHPR):c.357A>G (p.Leu119=)	GRHPR	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type II +2 more	GBenign/Likely benign
Select item 1139684	NM_012203.2(GRHPR):c.390C>T (p.Ile130=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 371016	NM_012203.2(GRHPR):c.454dup (p.Thr152fs)	GRHPR (T152fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 915249	NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys)	GRHPR (R163C)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
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 971637	NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys)	GRHPR (R171C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 645622	NM_012203.2(GRHPR):c.593_594del (p.Glu198fs)	GRHPR (E198fs)	Microsatellite (frameshift variant)	Primary hyperoxaluria, type II +1 more	GPathogenic
Select item 370176	NM_012203.2(GRHPR):c.597del (p.Phe199fs)	GRHPR (F199fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 204252	NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)	GRHPR (P203fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 913661	NM_012203.2(GRHPR):c.701T>C (p.Met234Thr)	GRHPR (M234T)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II +1 more	GUncertain significance
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 204225	NM_012203.2(GRHPR):c.734+9G>A	GRHPR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 557083	NM_012203.2(GRHPR):c.735-2del	GRHPR	Deletion (splice acceptor variant)	not provided +1 more	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 969060	NM_012203.2(GRHPR):c.742G>A (p.Val248Ile)	GRHPR (V248I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 162020	NM_012203.2(GRHPR):c.866_867del (p.Val289fs)	GRHPR (V289fs)	Microsatellite (frameshift variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 1179173	NM_012203.2(GRHPR):c.865+1G>T	GRHPR	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type II +1 more	GPathogenic/Likely pathogenic
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 366861	NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu)	GRHPR (P321L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II +2 more	GBenign/Likely benign

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Items: 32