ClinVar for Gene (Select 29914) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376980	NM_013319.3(UBIAD1):c.362T>G (p.Leu121Arg)	UBIAD1 (L121R)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy	GLikely pathogenic
Select item 3330631	NM_013319.3(UBIAD1):c.271G>C (p.Val91Leu)	UBIAD1 (V91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330630	NM_013319.3(UBIAD1):c.73G>A (p.Asp25Asn)	UBIAD1 (D25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330629	NM_013319.3(UBIAD1):c.578C>G (p.Thr193Ser)	UBIAD1 (T193S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3247909	NC_000001.10:g.(?_10710729)_(12030893_?)del	AGTRAP, FBXO6 +21 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3185659	NM_013319.3(UBIAD1):c.94C>T (p.Pro32Ser)	UBIAD1 (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185658	NM_013319.3(UBIAD1):c.568A>G (p.Ile190Val)	UBIAD1 (I190V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185657	NM_013319.3(UBIAD1):c.112C>A (p.Pro38Thr)	UBIAD1 (P38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3030278	NC_000001.11:g.11294897G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant)	UBIAD1-related disorder	GLikely benign
Select item 2764358	NM_013319.3(UBIAD1):c.765G>A (p.Thr255=)	UBIAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2758651	NM_013319.3(UBIAD1):c.675C>G (p.Thr225=)	UBIAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2636339	NM_013319.3(UBIAD1):c.991C>T (p.Pro331Ser)	UBIAD1 (P331S)	Single nucleotide variant (missense variant +1 more)	UBIAD1-related disorder	GUncertain significance
Select item 2600643	NM_013319.3(UBIAD1):c.721C>T (p.Arg241Trp)	UBIAD1 (R241W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	AGTRAP, ANGPTL7 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425520	NC_000001.10:g.(?_10698999)_(11907741_?)dup	AGTRAP, ANGPTL7 +18 more	Duplication	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2425246	NC_000001.10:g.(?_11269349)_(11346188_?)dup	MTOR, UBIAD1	Duplication	not provided	GUncertain significance
Select item 2425245	NC_000001.10:g.(?_10753911)_(11854615_?)dup	AGTRAP, ANGPTL7 +16 more	Duplication	not provided	GUncertain significance
Select item 2330242	NM_013319.3(UBIAD1):c.724G>C (p.Glu242Gln)	UBIAD1 (E242Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265639	NM_013319.3(UBIAD1):c.682A>G (p.Ile228Val)	UBIAD1 (I228V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233496	NM_013319.3(UBIAD1):c.770C>T (p.Ser257Phe)	UBIAD1 (S257F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225809	NM_013319.3(UBIAD1):c.41T>G (p.Leu14Arg)	UBIAD1 (L14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223749	NM_013319.3(UBIAD1):c.277G>A (p.Ala93Thr)	UBIAD1 (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2072763	NM_013319.3(UBIAD1):c.351T>C (p.Asp117=)	UBIAD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1807924	GRCh37/hg19 1p36.22(chr1:11296487-11676100)x3	DISP3, MTOR +1 more	Copy number gain	not provided	GUncertain significance
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1300209	NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn)	UBIAD1 (D240N)	Single nucleotide variant (missense variant +1 more)	Schnyder crystalline corneal dystrophy	GLikely pathogenic
Select item 1049943	NM_013319.3(UBIAD1):c.460C>T (p.Pro154Ser)	UBIAD1 (P154S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049477	NM_013319.3(UBIAD1):c.679G>T (p.Ala227Ser)	UBIAD1 (A227S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 980395	GRCh37/hg19 1p36.22(chr1:11192259-11432433)x3	ANGPTL7, UBIAD1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 929342	GRCh37/hg19 1p36.22(chr1:11053101-11336968)x1	ANGPTL7, EXOSC10 +5 more	Copy number loss	See cases	GLikely pathogenic
Select item 877035	NM_013319.3(UBIAD1):c.*2091G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 877034	NM_013319.3(UBIAD1):c.*1876G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 877033	NM_013319.3(UBIAD1):c.*1811G>C	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 876984	NM_013319.3(UBIAD1):c.*709C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 876930	NM_013319.3(UBIAD1):c.739A>G (p.Thr247Ala)	UBIAD1 (T247A)	Single nucleotide variant (missense variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 876929	NM_013319.3(UBIAD1):c.711G>T (p.Met237Ile)	UBIAD1 (M237I)	Single nucleotide variant (missense variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 876073	NM_013319.3(UBIAD1):c.*1580C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 876072	NM_013319.3(UBIAD1):c.*1570G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 876071	NM_013319.3(UBIAD1):c.*1565G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 876070	NM_013319.3(UBIAD1):c.*1506T>C	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 876002	NM_013319.3(UBIAD1):c.*519G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 876001	NM_013319.3(UBIAD1):c.*467G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 876000	NM_013319.3(UBIAD1):c.*295G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 875998	NM_013319.3(UBIAD1):c.*234C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 875119	NM_013319.3(UBIAD1):c.*1228A>G	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 875069	NM_013319.3(UBIAD1):c.*170T>G	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 875068	NM_013319.3(UBIAD1):c.*48A>G	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 874963	NM_013319.3(UBIAD1):c.230G>A (p.Gly77Asp)	UBIAD1 (G77D)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy	GLikely benign
Select item 874962	NM_013319.3(UBIAD1):c.191C>T (p.Pro64Leu)	UBIAD1 (P64L)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 874961	NM_013319.3(UBIAD1):c.116A>G (p.Gln39Arg)	UBIAD1 (Q39R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 874246	NM_013319.3(UBIAD1):c.*2213C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 874245	NM_013319.3(UBIAD1):c.*2201C>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 874197	NM_013319.3(UBIAD1):c.*1189A>G	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 874196	NM_013319.3(UBIAD1):c.*990T>C	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 874025	NM_013319.3(UBIAD1):c.-78G>C	LOC129929401, UBIAD1	Single nucleotide variant (5 prime UTR variant)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 874024	NM_013319.3(UBIAD1):c.-86G>C	LOC129929401, UBIAD1	Single nucleotide variant (5 prime UTR variant)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 874023	NM_013319.3(UBIAD1):c.-310C>T	LOC129929400, UBIAD1	Single nucleotide variant (5 prime UTR variant)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 830841	NC_000001.11:g.(?_11012634)_(11934865_?)del	AGTRAP, ANGPTL7 +19 more	Deletion	Atrial fibrillation, familial, 6	GUncertain significance
Select item 814055	GRCh37/hg19 1p36.22(chr1:11086990-11429365)x3	MTOR, UBIAD1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 814053	GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1	TARDBP, RBP7 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 688367	GRCh37/hg19 1p36.22(chr1:11278039-11493814)x3	MTOR, UBIAD1	Copy number gain	not provided	GUncertain significance
Select item 685664	GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1	AADACL3, AADACL4 +38 more	Copy number loss	not provided	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565076	GRCh37/hg19 1p36.22(chr1:11287861-11493814)x3	UBIAD1, MTOR	Copy number gain	not provided	GUncertain significance
Select item 565075	GRCh37/hg19 1p36.22(chr1:11278175-11691473)x3	DISP3, MTOR +1 more	Copy number gain	not provided	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442266	GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	AADACL3, AADACL4 +43 more	Copy number gain	See cases	GUncertain significance
Select item 441991	GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	AADACL3, AADACL4 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 368802	NM_001330349.2(UBIAD1):c.618+2704C>T	UBIAD1	Single nucleotide variant (intron variant)	Schnyder crystalline corneal dystrophy	GLikely benign
Select item 368801	NM_013319.2(UBIAD1):c.-337C>T	LOC129929400, UBIAD1	Single nucleotide variant	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291910	NM_013319.3(UBIAD1):c.*2187G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291909	NM_013319.3(UBIAD1):c.*2115C>G	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291908	NM_013319.3(UBIAD1):c.1817_1820del	UBIAD1	Deletion (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291907	NM_013319.3(UBIAD1):c.*1810del	UBIAD1	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 291906	NM_013319.3(UBIAD1):c.*1779C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291905	NM_013319.3(UBIAD1):c.*1719A>G	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291904	NM_013319.3(UBIAD1):c.*1671G>A	UBIAD1	Single nucleotide variant (intron variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291903	NM_013319.3(UBIAD1):c.*1586C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291902	NM_013319.3(UBIAD1):c.*1564C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291901	NM_013319.3(UBIAD1):c.*1535A>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291900	NM_013319.3(UBIAD1):c.*1532C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291899	NM_013319.3(UBIAD1):c.*1495T>C	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291898	NM_013319.3(UBIAD1):c.*1494A>G	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291897	NM_013319.3(UBIAD1):c.*1459T>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291896	NM_013319.3(UBIAD1):c.*1427T>C	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291895	NM_013319.3(UBIAD1):c.*1426C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291894	NM_013319.3(UBIAD1):c.*1304C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign

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