ClinVar for Gene (Select 9380) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
Select item 3241722	NM_012203.2(GRHPR):c.847del (p.Leu282_Leu283insTer)	GRHPR	Deletion (nonsense)	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 3241720	NM_012203.2(GRHPR):c.422G>A (p.Trp141Ter)	GRHPR (W141*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type II	GLikely pathogenic
Select item 3226217	NM_012203.2(GRHPR):c.455C>G (p.Thr152Arg)	GRHPR (T152R)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3102303	NM_012203.2(GRHPR):c.966G>C (p.Met322Ile)	GRHPR (M322I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3102302	NM_012203.2(GRHPR):c.502A>G (p.Ile168Val)	GRHPR (I168V)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3049983	NM_012203.2(GRHPR):c.-4G>A	GRHPR	Single nucleotide variant (5 prime UTR variant)	GRHPR-related disorder	GLikely benign
Select item 3049815	NM_012203.2(GRHPR):c.-3C>T	GRHPR	Single nucleotide variant (5 prime UTR variant)	GRHPR-related disorder	GLikely benign
Select item 3020687	NM_012203.2(GRHPR):c.214+1G>A	GRHPR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3019203	NM_012203.2(GRHPR):c.214+16G>A	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016125	NM_012203.2(GRHPR):c.214+20G>A	GRHPR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3015823	NM_012203.2(GRHPR):c.866-14T>C	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015168	NM_012203.2(GRHPR):c.405-16C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012049	NM_012203.2(GRHPR):c.404+1G>T	GRHPR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3010958	NM_012203.2(GRHPR):c.866-18T>C	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009441	NM_012203.2(GRHPR):c.865+14T>C	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005768	NM_012203.2(GRHPR):c.287+9A>G	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004918	NM_012203.2(GRHPR):c.984G>A (p.Leu328=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003891	NM_012203.2(GRHPR):c.287+15G>C	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003224	NM_012203.2(GRHPR):c.501C>T (p.Ala167=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001022	NM_012203.2(GRHPR):c.405-9T>C	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000493	NM_012203.2(GRHPR):c.813G>A (p.Thr271=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999747	NM_012203.2(GRHPR):c.866-7_866-3del	GRHPR	Deletion (intron variant)	not provided	GLikely benign
Select item 2997084	NM_012203.2(GRHPR):c.494-4C>G	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990762	NM_012203.2(GRHPR):c.214+7A>C	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988032	NM_012203.2(GRHPR):c.846C>T (p.Leu282=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982532	NM_012203.2(GRHPR):c.287+7G>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973523	NM_012203.2(GRHPR):c.404+18A>G	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971933	NM_012203.2(GRHPR):c.215-21_215-20del	GRHPR	Deletion (intron variant)	not provided	GLikely benign
Select item 2960041	NM_012203.2(GRHPR):c.83+11C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955810	NM_012203.2(GRHPR):c.599-15C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918847	NM_012203.2(GRHPR):c.494-20A>G	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917102	NM_012203.2(GRHPR):c.303C>G (p.Gly101=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917029	NM_012203.2(GRHPR):c.405-20G>A	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916497	NM_012203.2(GRHPR):c.493+19C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916041	NM_012203.2(GRHPR):c.493+15G>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914413	NM_012203.2(GRHPR):c.493+19C>A	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914390	NM_012203.2(GRHPR):c.215-14T>C	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912852	NM_012203.2(GRHPR):c.866-16_866-15insTT	GRHPR	Insertion (intron variant)	not provided	GLikely benign
Select item 2909764	NM_012203.2(GRHPR):c.83+18C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907324	NM_012203.2(GRHPR):c.865+1G>A	GRHPR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2900352	NM_012203.2(GRHPR):c.865+11C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900189	NM_012203.2(GRHPR):c.432C>G (p.Leu144=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899870	NM_012203.2(GRHPR):c.866-25CT[3]	GRHPR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2896487	NM_012203.2(GRHPR):c.493+13C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895585	NM_012203.2(GRHPR):c.351C>T (p.Ser117=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895444	NM_012203.2(GRHPR):c.369C>T (p.Cys123=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893700	NM_012203.2(GRHPR):c.494-17G>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893539	NM_012203.2(GRHPR):c.493+13C>A	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891769	NM_012203.2(GRHPR):c.866-25CT[4]	GRHPR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2890944	NM_012203.2(GRHPR):c.599-12G>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888983	NM_012203.2(GRHPR):c.404+19G>A	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888809	NM_012203.2(GRHPR):c.83+15C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886330	NM_012203.2(GRHPR):c.734+22dup	GRHPR	Duplication (intron variant)	not provided	GLikely benign
Select item 2882864	NM_012203.2(GRHPR):c.777C>T (p.Ala259=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882427	NM_012203.2(GRHPR):c.405-16CT[3]	GRHPR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2875682	NM_012203.2(GRHPR):c.762G>C (p.Leu254=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870152	NM_012203.2(GRHPR):c.404+20G>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865367	NM_012203.2(GRHPR):c.493+7C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861701	NM_012203.2(GRHPR):c.216G>T (p.Gly72=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858548	NM_012203.2(GRHPR):c.894C>G (p.Thr298=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856037	NM_012203.2(GRHPR):c.215-16A>G	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852344	NM_012203.2(GRHPR):c.622C>T (p.Gln208Ter)	GRHPR (Q208*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2851695	NM_012203.2(GRHPR):c.215-13T>C	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850973	NM_012203.2(GRHPR):c.160G>C (p.Gly54Arg)	GRHPR (G54R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850636	NM_012203.2(GRHPR):c.404+15A>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850596	NM_012203.2(GRHPR):c.97C>T (p.Gln33Ter)	GRHPR (Q33*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2849545	NM_012203.2(GRHPR):c.865+8C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846549	NM_012203.2(GRHPR):c.287+8C>A	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845058	NM_012203.2(GRHPR):c.287+18T>G	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844295	NM_012203.2(GRHPR):c.107_214+25del	GRHPR	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2842114	NM_012203.2(GRHPR):c.599-19G>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840770	NM_012203.2(GRHPR):c.228A>G (p.Lys76=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840606	NM_012203.2(GRHPR):c.407del (p.Gly136fs)	GRHPR (G136fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2833947	NM_012203.2(GRHPR):c.528T>C (p.Gly176=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831246	NM_012203.2(GRHPR):c.734+13C>G	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829484	NM_012203.2(GRHPR):c.876C>A (p.Pro292=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828136	NM_012203.2(GRHPR):c.494-10C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826175	NM_012203.2(GRHPR):c.735-4C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824747	NM_012203.2(GRHPR):c.795T>C (p.Ala265=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824093	NM_012203.2(GRHPR):c.865+10G>A	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820316	NM_012203.2(GRHPR):c.405-15del	GRHPR	Deletion (intron variant)	not provided	GLikely benign
Select item 2818967	NM_012203.2(GRHPR):c.825_826del (p.Leu276fs)	GRHPR (L276fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2817688	NM_012203.2(GRHPR):c.259del (p.His87fs)	GRHPR (H87fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2810788	NM_012203.2(GRHPR):c.231C>T (p.Val77=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810478	NM_012203.2(GRHPR):c.378G>A (p.Leu126=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810248	NM_012203.2(GRHPR):c.681C>T (p.Asn227=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808422	NM_012203.2(GRHPR):c.952A>C (p.Arg318=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807993	NM_012203.2(GRHPR):c.215-17C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806379	NM_012203.2(GRHPR):c.753G>A (p.Gln251=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801317	NM_012203.2(GRHPR):c.866-9C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798952	NM_012203.2(GRHPR):c.204G>A (p.Leu68=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798344	NM_012203.2(GRHPR):c.162C>G (p.Gly54=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797339	NM_012203.2(GRHPR):c.493+7C>A	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792521	NM_012203.2(GRHPR):c.474C>T (p.Ile158=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790213	NM_012203.2(GRHPR):c.39C>T (p.Arg13=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785622	NM_012203.2(GRHPR):c.114G>A (p.Glu38=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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