C0268165[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556994	NM_012203.2(GRHPR):c.1A>T (p.Met1Leu)	GRHPR (M1L)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 554025	NM_012203.2(GRHPR):c.1A>G (p.Met1Val)	GRHPR (M1V)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria, type II	GPathogenic/Likely pathogenic
Select item 551406	NM_012203.2(GRHPR):c.2T>G (p.Met1Arg)	GRHPR (M1R)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 555775	NM_012203.2(GRHPR):c.83+51G>A	GRHPR	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type II	GLikely benign
Select item 555494	NM_012203.2(GRHPR):c.83+51_83+52delinsA	GRHPR	Indel (intron variant)	Primary hyperoxaluria, type II	GLikely benign
Select item 204241	NM_012203.2(GRHPR):c.84-2A>G	GRHPR	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 204231	NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)	GRHPR (W34*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 550123	NM_012203.2(GRHPR):c.188_189del (p.Val63fs)	GRHPR (V63fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 552245	NM_012203.2(GRHPR):c.214+1G>C	GRHPR	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 551339	NM_012203.2(GRHPR):c.214+1G>T	GRHPR	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
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 551215	NM_012203.2(GRHPR):c.215-2_215-1del	GRHPR	Deletion (splice acceptor 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 555539	NM_012203.2(GRHPR):c.286_287+1del	GRHPR	Deletion (splice donor variant)	not specified +1 more	GUncertain significance
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 556493	NM_012203.2(GRHPR):c.403_404+1del	GRHPR	Microsatellite (splice donor variant)	Primary hyperoxaluria, type II +1 more	GConflicting classifications of pathogenicity
Select item 370187	NM_012203.2(GRHPR):c.404del (p.Asn135fs)	GRHPR (N135fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 554052	NM_012203.2(GRHPR):c.405-1G>A	GRHPR	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 371518	NM_012203.2(GRHPR):c.435_436del (p.Trp145fs)	GRHPR (W145fs)	Deletion (frameshift variant)	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 553469	NM_012203.2(GRHPR):c.456_464del (p.Gln153_Thr155del)	GRHPR	Deletion (inframe_deletion)	Primary hyperoxaluria, type II	GUncertain significance
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 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 550345	NM_012203.2(GRHPR):c.496del (p.Gln166fs)	GRHPR (Q166fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 371081	NM_012203.2(GRHPR):c.515del (p.Leu172fs)	GRHPR (L172fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 370176	NM_012203.2(GRHPR):c.597del (p.Phe199fs)	GRHPR (F199fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 557777	NM_012203.2(GRHPR):c.598+1del	GRHPR	Deletion (splice donor variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 550070	NM_012203.2(GRHPR):c.598+1G>T	GRHPR	Single nucleotide variant (splice donor 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 204252	NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)	GRHPR (P203fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 370863	NM_012203.2(GRHPR):c.755dup (p.Asp252fs)	GRHPR (D252fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II +1 more	GPathogenic/Likely pathogenic
Select item 551312	NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs)	GRHPR (G261fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551167	NM_012203.2(GRHPR):c.783dup (p.Lys262Ter)	GRHPR (K262*)	Duplication (nonsense)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 553655	NM_012203.2(GRHPR):c.849dup (p.Thr284fs)	GRHPR (T284fs)	Duplication (frameshift variant)	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 558617	NM_012203.2(GRHPR):c.865+2dup	GRHPR	Duplication (splice donor variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 552954	NM_012203.2(GRHPR):c.866-2A>G	GRHPR	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type II	GConflicting classifications of pathogenicity
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 551151	NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr)	GRHPR (A297T)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GConflicting classifications of pathogenicity
Select item 553825	NM_012203.2(GRHPR):c.935dup (p.Asn312fs)	GRHPR (N312fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 551678	NM_012203.2(GRHPR):c.954_955del (p.Glu320fs)	GRHPR (E320fs)	Microsatellite (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 370871	NM_012203.2(GRHPR):c.954del (p.Glu320fs)	GRHPR (E320fs)	Deletion (frameshift 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 550129	NM_012203.2(GRHPR):c.964_965del (p.Met322fs)	GRHPR (M322fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 551386	NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp)	GRHPR	Single nucleotide variant (stop lost)	Primary hyperoxaluria, type II	GUncertain significance

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Items: 51