ClinVar for MedGen (Select 120616) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691288	NM_012203.2(GRHPR):c.206_214+11del	GRHPR	Deletion (splice donor variant)	Primary hyperoxaluria, type II +1 more	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 2671865	NM_012203.2(GRHPR):c.930_931dup (p.Asn311fs)	GRHPR (N311fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2671864	NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly)	GRHPR (D269G)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2671863	NM_012203.2(GRHPR):c.761T>C (p.Leu254Pro)	GRHPR (L254P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2671862	NM_012203.2(GRHPR):c.494-2A>G	GRHPR	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2664429	NM_012203.2(GRHPR):c.288-1G>C	GRHPR	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2664428	NM_012203.2(GRHPR):c.287G>A (p.Arg96His)	GRHPR (R96H)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2664427	NM_012203.2(GRHPR):c.258_272del (p.His87_Asp91del)	GRHPR	Deletion (inframe_deletion)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2664426	NM_012203.2(GRHPR):c.211G>A (p.Ala71Thr)	GRHPR (A71T)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 2664425	Multiple alleles	GRHPR (R124fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2664424	NM_012203.2(GRHPR):c.961C>G (p.Pro321Ala)	GRHPR (P321A)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 2664423	NM_012203.2(GRHPR):c.932dup (p.Asn311fs)	GRHPR (N311fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2664422	NM_012203.2(GRHPR):c.84-12_84-5delinsTTT	GRHPR	Indel (intron variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2664421	NM_012203.2(GRHPR):c.638T>C (p.Val213Ala)	GRHPR (V213A)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 2664420	NM_012203.2(GRHPR):c.536_537del (p.Arg179fs)	GRHPR (R179fs)	Microsatellite (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2664419	NM_012203.2(GRHPR):c.412T>C (p.Trp138Arg)	GRHPR (W138R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2664418	NM_012203.2(GRHPR):c.351_373del (p.Leu118fs)	GRHPR (L118fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2664417	NM_012203.2(GRHPR):c.348del (p.Ser117fs)	GRHPR (S117fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2664416	NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)	GRHPR (A115E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GConflicting classifications of pathogenicity
Select item 2664415	NM_012203.2(GRHPR):c.68T>C (p.Leu23Pro)	GRHPR (L23P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2664109	NM_012203.2(GRHPR):c.890_891dup (p.Thr298fs)	GRHPR (T298fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2664107	NM_012203.2(GRHPR):c.783del (p.Lys262fs)	GRHPR (K262fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2664106	NM_012203.2(GRHPR):c.780dup (p.Gly261fs)	GRHPR (G261fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2664105	NM_012203.2(GRHPR):c.769dup (p.Ala257fs)	GRHPR (A257fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2664104	NM_012203.2(GRHPR):c.656C>T (p.Thr219Ile)	GRHPR (T219I)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 2664103	NM_012203.2(GRHPR):c.501del (p.Ile168fs)	GRHPR (I168fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2664102	NM_012203.2(GRHPR):c.287_287+4delinsCCC	GRHPR	Indel (splice donor variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2664101	NM_012203.2(GRHPR):c.271del (p.Asp91fs)	GRHPR (D91fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2664100	NM_012203.2:c.215_493del	GRHPR	Deletion	Primary hyperoxaluria, type II	GPathogenic
Select item 2664098	NM_012203.2(GRHPR):c.109_118delinsCAC (p.Asp37fs)	GRHPR (D37fs)	Indel (frameshift variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2573564	NM_012203.2(GRHPR):c.905G>C (p.Arg302Pro)	GRHPR (R302P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II +1 more	GConflicting classifications of pathogenicity
Select item 2445702	NM_012203.2(GRHPR):c.603dup (p.Thr202fs)	GRHPR (T202fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 2155337	NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn)	GRHPR (D61N)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II +1 more	GConflicting classifications of pathogenicity
Select item 2101269	NM_012203.2(GRHPR):c.102_112del (p.Trp34_Glu38delinsTer)	GRHPR	Deletion (nonsense)	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 1805904	NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr)	GRHPR (C57Y)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 1726644	NM_012203.2(GRHPR):c.532del (p.Gln178fs)	GRHPR (Q178fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 1726382	NM_012203.2(GRHPR):c.496C>T (p.Gln166Ter)	GRHPR (Q166*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726132	NM_012203.2(GRHPR):c.319dup (p.Leu107fs)	GRHPR (L107fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 1725398	NM_012203.2(GRHPR):c.338_351del (p.Glu113fs)	GRHPR (E113fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 1725382	NM_012203.2(GRHPR):c.499_500insAGAGT (p.Ala167fs)	GRHPR (A167fs)	Insertion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 1725194	NM_012203.2(GRHPR):c.586del (p.Gln196fs)	GRHPR (Q196fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GLikely pathogenic
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 1185159	NM_012203.2(GRHPR):c.404+153T>C	GRHPR	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type II +1 more	GBenign
Select item 1185158	NM_012203.2(GRHPR):c.-92C>T	GRHPR	Single nucleotide variant	Primary hyperoxaluria, type II +1 more	GBenign
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 1170250	NM_012203.2(GRHPR):c.636C>T (p.Ile212=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1168400	NM_012203.2(GRHPR):c.387C>A (p.Ala129=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1167523	NM_012203.2(GRHPR):c.234C>T (p.Ile78=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1159513	NM_012203.2(GRHPR):c.180C>T (p.Ser60=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1149142	NM_012203.2(GRHPR):c.381G>A (p.Pro127=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1136447	NM_012203.2(GRHPR):c.771C>T (p.Ala257=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130501	NM_012203.2(GRHPR):c.345A>T (p.Ala115=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1093213	NM_012203.2(GRHPR):c.846C>G (p.Leu282=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1091045	NM_012203.2(GRHPR):c.844C>T (p.Leu282Phe)	GRHPR (L282F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1069746	NM_012203.2(GRHPR):c.589del (p.Ala197fs)	GRHPR (A197fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II +1 more	GPathogenic/Likely pathogenic
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 991672	NM_012203.2(GRHPR):c.578C>T (p.Ala193Val)	GRHPR (A193V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 991671	NM_012203.2(GRHPR):c.252C>A (p.Gly84=)	GRHPR	Single nucleotide variant (synonymous variant)	GRHPR-related condition +1 more	GLikely benign
Select item 991670	NM_012203.2(GRHPR):c.108G>A (p.Ser36=)	GRHPR	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type II +2 more	GLikely benign
Select item 991669	NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala)	GRHPR (T12A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 984354	NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter)	GRHPR (Q153*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 984353	NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter)	GRHPR (Y102*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 984352	NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter)	GRHPR (E46*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type II	GLikely pathogenic
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 969060	NM_012203.2(GRHPR):c.742G>A (p.Val248Ile)	GRHPR (V248I)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II +1 more	GConflicting classifications of pathogenicity
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 961747	NM_012203.2(GRHPR):c.215-13_215-7del	GRHPR	Deletion (intron variant)	not provided	GUncertain significance
Select item 915250	NM_012203.2(GRHPR):c.543G>C (p.Leu181=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 915248	NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln)	GRHPR (R125Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 914057	NM_012203.2(GRHPR):c.*132T>C	GRHPR	Single nucleotide variant (3 prime UTR variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 914015	NM_012203.2(GRHPR):c.296G>A (p.Arg99Gln)	GRHPR (R99Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 914014	NM_012203.2(GRHPR):c.265G>C (p.Ala89Pro)	GRHPR (A89P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 914013	NM_012203.2(GRHPR):c.156C>G (p.Ala52=)	GRHPR	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 913662	NM_012203.2(GRHPR):c.759C>G (p.Asp253Glu)	GRHPR (D253E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 913661	NM_012203.2(GRHPR):c.701T>C (p.Met234Thr)	GRHPR (M234T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 913660	NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu)	GRHPR (F230L)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +2 more	GConflicting classifications of pathogenicity
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 913617	NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr)	GRHPR (C29Y)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 912558	NM_012203.2(GRHPR):c.554G>A (p.Arg185His)	GRHPR (R185H)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 912557	NM_012203.2(GRHPR):c.551G>A (p.Gly184Glu)	GRHPR (G184E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 842547	NM_012203.2(GRHPR):c.83+1G>C	GRHPR	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type II +1 more	GLikely pathogenic
Select item 829991	NM_012203.2(GRHPR):c.872T>C (p.Leu291Pro)	GRHPR (L291P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II	GUncertain significance
Select item 799838	NM_012203.2(GRHPR):c.384G>A (p.Glu128=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 798813	NM_012203.2(GRHPR):c.84-4G>A	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 796573	NM_012203.2(GRHPR):c.342C>T (p.Leu114=)	GRHPR	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type II +2 more	GLikely benign

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