ClinVar for Gene (Select 4599) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	TFF2, UBE2G2 +216 more	Copy number gain	not provided	GPathogenic
Select item 3151927	NM_002462.5(MX1):c.91A>G (p.Lys31Glu)	MX1 (K31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151917	NM_002462.5(MX1):c.851A>G (p.Gln284Arg)	MX1 (Q284R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151913	NM_002462.5(MX1):c.794G>A (p.Arg265Gln)	MX1 (R265Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151906	NM_002462.5(MX1):c.454G>A (p.Gly152Arg)	MX1 (G152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151899	NM_002462.5(MX1):c.297C>A (p.Ser99Arg)	MX1 (S99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151895	NM_002462.5(MX1):c.219C>G (p.Ile73Met)	MX1 (I73M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151884	NM_002462.5(MX1):c.1903G>A (p.Asp635Asn)	MX1 (D635N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151877	NM_002462.5(MX1):c.1733T>C (p.Phe578Ser)	LOC126653381, MX1 (F578S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151867	NM_002462.5(MX1):c.1655A>G (p.Glu552Gly)	LOC126653381, MX1 (E552G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151861	NM_002462.5(MX1):c.149G>A (p.Arg50His)	MX1 (R50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151853	NM_002462.5(MX1):c.1322G>A (p.Arg441His)	MX1 (R441H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151841	NM_002462.5(MX1):c.1142C>A (p.Ala381Asp)	MX1 (A381D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684916	GRCh37/hg19 21q22.2-22.3(chr21:40965330-43116823)x3	B3GALT5, BACE2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652680	NM_002462.5(MX1):c.*31C>T	MX1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2621231	NM_002462.5(MX1):c.1919G>A (p.Arg640Gln)	MX1 (R640Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607843	NM_002462.5(MX1):c.1646A>C (p.Glu549Ala)	LOC126653381, MX1 (E549A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603616	NM_002462.5(MX1):c.965G>A (p.Cys322Tyr)	MX1 (C322Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600957	NM_002462.5(MX1):c.1820C>G (p.Thr607Arg)	MX1 (T607R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568438	NM_002462.5(MX1):c.22A>G (p.Ile8Val)	MX1 (I8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557197	NM_002462.5(MX1):c.875T>G (p.Leu292Arg)	MX1 (L292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548991	NM_002462.5(MX1):c.448A>G (p.Ile150Val)	MX1 (I150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539787	NM_002462.5(MX1):c.1307T>A (p.Phe436Tyr)	MX1 (F436Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533383	NM_002462.5(MX1):c.1313A>G (p.Asn438Ser)	MX1 (N438S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467814	NM_002462.5(MX1):c.938T>C (p.Leu313Pro)	MX1 (L313P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406700	NM_002462.5(MX1):c.956C>T (p.Thr319Met)	MX1 (T319M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404428	NM_002462.5(MX1):c.908T>C (p.Phe303Ser)	MX1 (F303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396690	NM_002462.5(MX1):c.1772G>A (p.Arg591His)	MX1 (R591H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386602	NM_002462.5(MX1):c.548C>T (p.Thr183Ile)	MX1 (T183I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354210	NM_002462.5(MX1):c.220G>A (p.Ala74Thr)	MX1 (A74T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354098	NM_002462.5(MX1):c.1441C>T (p.Arg481Trp)	MX1 (R481W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324417	NM_002462.5(MX1):c.1218A>C (p.Arg406Ser)	MX1 (R406S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282933	NM_002462.5(MX1):c.131A>G (p.Gln44Arg)	MX1 (Q44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281617	NM_002462.5(MX1):c.1966C>T (p.Arg656Trp)	MX1 (P494L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258005	NM_002462.5(MX1):c.1403C>T (p.Pro468Leu)	MX1 (P468L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246213	NM_002462.5(MX1):c.1087G>A (p.Asp363Asn)	MX1 (D363N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245561	NM_002462.5(MX1):c.77C>A (p.Ala26Asp)	MX1 (A26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238864	NM_002462.5(MX1):c.1703C>T (p.Ser568Leu)	LOC126653381, MX1 (S568L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207039	NM_002462.5(MX1):c.786C>G (p.Asp262Glu)	MX1 (D262E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807697	GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	ABCG1, BACE2 +28 more	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 980238	GRCh37/hg19 21q22.3(chr21:42662220-42799124)x1	MX1, MX2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 784415	NM_002462.5(MX1):c.1901G>C (p.Ser634Thr)	MX1 (E472D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784414	NM_002462.5(MX1):c.1065G>A (p.Glu355=)	MX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784413	NM_002462.5(MX1):c.105+9C>G	MX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778908	NM_002462.5(MX1):c.402G>A (p.Ser134=)	MX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778182	NM_002462.5(MX1):c.1692C>T (p.Phe564=)	LOC126653381, MX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 737180	NM_002462.5(MX1):c.942G>A (p.Glu314=)	MX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711249	NM_002462.5(MX1):c.946G>A (p.Gly316Arg)	MX1 (G316R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688164	GRCh37/hg19 21q22.3(chr21:42714287-42943077)x1	FAM3B, MX1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 635899	Single allele	ABCG1, BACE2 +10 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564652	GRCh37/hg19 21q22.3(chr21:42805420-43176065)x3	RIPK4, MX1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 545244	NC_000021.9:g.(?_38981673)_(41568791_?)del	FAM3B, GET1 +85 more	Deletion	Autism	GLikely pathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443779	GRCh37/hg19 21q22.3(chr21:42661850-43590844)x3	C2CD2, FAM3B +7 more	Copy number gain	See cases	GUncertain significance
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	ABCG1, ADARB1 +85 more	Copy number loss	See cases	GPathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	BTG3, C21orf58 +217 more	Copy number gain	See cases	GPathogenic
Select item 394099	GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1	ABCG1, B3GALT5 +28 more	Copy number loss	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253477	GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	PKNOX1, TMPRSS3 +37 more	Copy number gain	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155316	GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3	ABCG1, C2CD2 +114 more	Copy number gain	See cases	GLikely benign
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC130066843, LOC130066844 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653343, LOC126653344 +1160 more	Copy number gain	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066735, LOC130066736 +1156 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LINC00315, LINC00316 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	ATP5PF, ATP5PO +1159 more	Copy number gain	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653350, LOC126653351 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LINC00111, LINC00112 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	TSPEAR-AS1, TSPEAR-AS2 +1160 more	Copy number gain	See cases	GPathogenic

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