9380[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
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	Primary hyperoxaluria, type II +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 664453	NC_000009.12:g.(?_37422741)_(37785054_?)del	LOC126860627, LOC129390075 +22 more	Deletion	not provided	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 204230	NM_012203.2(GRHPR):c.-4_-3delinsAT	GRHPR	Indel (5 prime UTR variant)	Primary hyperoxaluria, type II	GLikely pathogenic
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 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 1568326	NM_012203.2(GRHPR):c.6A>G (p.Arg2=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1086804	NM_012203.2(GRHPR):c.9G>C (p.Pro3=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1121221	NM_012203.2(GRHPR):c.12G>A (p.Val4=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 649477	NM_012203.2(GRHPR):c.13C>T (p.Arg5Ter)	GRHPR (R5*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 366851	NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe)	GRHPR (L6F)	Single nucleotide variant (missense variant)	GRHPR-related disorder +2 more	GBenign/Likely benign
Select item 1074076	NM_012203.2(GRHPR):c.23_26dup (p.Phe10fs)	GRHPR (F10fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1104341	NM_012203.2(GRHPR):c.27G>A (p.Val9=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694521	NM_012203.2(GRHPR):c.33C>T (p.Val11=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991669	NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala)	GRHPR (T12A)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type II +1 more	GConflicting classifications of pathogenicity
Select item 1149751	NM_012203.2(GRHPR):c.36C>T (p.Thr12=)	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 1350443	NM_012203.2(GRHPR):c.43A>C (p.Ile15Leu)	GRHPR (I15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204245	NM_012203.2(GRHPR):c.45del (p.Ala17fs)	GRHPR (A17fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2111176	NM_012203.2(GRHPR):c.48C>G (p.Pro16=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651025	NM_012203.2(GRHPR):c.51C>G (p.Ala17=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1154506	NM_012203.2(GRHPR):c.51C>T (p.Ala17=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754559	NM_012203.2(GRHPR):c.57T>C (p.Gly19=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080958	NM_012203.2(GRHPR):c.63C>T (p.Val21=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1538082	NM_012203.2(GRHPR):c.66G>A (p.Ala22=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1138903	NM_012203.2(GRHPR):c.66G>T (p.Ala22=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1159931	NM_012203.2(GRHPR):c.69C>T (p.Leu23=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946736	NM_012203.2(GRHPR):c.75G>A (p.Arg25=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133853	NM_012203.2(GRHPR):c.81A>C (p.Ala27=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2960041	NM_012203.2(GRHPR):c.83+11C>T	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 2909764	NM_012203.2(GRHPR):c.83+18C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747104	NM_012203.2(GRHPR):c.83+18C>A	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 204218	NM_012203.2(GRHPR):c.83+52del	GRHPR	Deletion (intron variant)	Primary hyperoxaluria, type II	GBenign
Select item 242573	NM_012203.2(GRHPR):c.84-13_84-12del	GRHPR	Deletion (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2664422	NM_012203.2(GRHPR):c.84-12_84-5delinsTTT	GRHPR	Indel (intron variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 242572	NM_012203.2(GRHPR):c.84-8_84-5del	GRHPR	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 204246	NM_012203.1(GRHPR):c.[84-8_84-5delCCCC;84-13_84-12delCC]	GRHPR	Deletion (intron variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 1106705	NM_012203.2(GRHPR):c.84-5C>T	GRHPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 798813	NM_012203.2(GRHPR):c.84-4G>A	GRHPR	Single nucleotide variant (intron variant)	Nephrolithiasis/nephrocalcinosis +1 more	GConflicting classifications of pathogenicity
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 2156329	NM_012203.2(GRHPR):c.85T>C (p.Cys29Arg)	GRHPR (C29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 913617	NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr)	GRHPR (C29Y)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +1 more	GUncertain significance
Select item 1026171	NM_012203.2(GRHPR):c.92_103del (p.Val31_Trp34del)	GRHPR	Deletion (inframe_deletion)	not provided	GUncertain significance
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 1106329	NM_012203.2(GRHPR):c.93G>A (p.Val31=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided +1 more	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 2693566	NM_012203.2(GRHPR):c.99G>A (p.Gln33=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2078185	NM_012203.2(GRHPR):c.100del (p.Trp34fs)	GRHPR (W34fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II +1 more	GPathogenic/Likely pathogenic
Select item 2844295	NM_012203.2(GRHPR):c.107_214+25del	GRHPR	Deletion (splice donor variant)	not provided	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 5636	NM_012203.2(GRHPR):c.103del (p.Asp35fs)	GRHPR (D35fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type II +1 more	GPathogenic
Select item 204231	NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)	GRHPR (W34*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type II +1 more	GPathogenic/Likely pathogenic
Select item 1460348	NM_012203.2(GRHPR):c.107C>A (p.Ser36Ter)	GRHPR (S36*)	Single nucleotide variant (nonsense)	not provided	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 2664098	NM_012203.2(GRHPR):c.109_118delinsCAC (p.Asp37fs)	GRHPR (D37fs)	Indel (frameshift variant)	Primary hyperoxaluria, type II	GPathogenic
Select item 2785622	NM_012203.2(GRHPR):c.114G>A (p.Glu38=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592784	NM_012203.2(GRHPR):c.117C>T (p.Pro39=)	GRHPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435234	NM_012203.2(GRHPR):c.119T>C (p.Ile40Thr)	GRHPR (I40T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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