ClinVar for MedGen (Select 124391) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Inborn genetic diseases +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 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)	Schnyder crystalline corneal dystrophy	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 (intron variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291893	NM_013319.3(UBIAD1):c.*1265T>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291892	NM_013319.3(UBIAD1):c.*1167C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291891	NM_013319.3(UBIAD1):c.*1060G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291890	NM_013319.3(UBIAD1):c.*1010C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291888	NM_013319.3(UBIAD1):c.*997C>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291887	NM_013319.3(UBIAD1):c.969_970insTTTG	UBIAD1	Insertion (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291886	NM_013319.3(UBIAD1):c.*904T>C	UBIAD1	Single nucleotide variant (intron variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291885	NM_013319.3(UBIAD1):c.*847A>T	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291884	NM_013319.3(UBIAD1):c.*819G>A	UBIAD1	Single nucleotide variant (intron variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291883	NM_013319.3(UBIAD1):c.*684C>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291882	NM_013319.3(UBIAD1):c.*675A>G	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291881	NM_013319.3(UBIAD1):c.*619A>G	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291880	NM_013319.3(UBIAD1):c.*612T>C	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291879	NM_013319.3(UBIAD1):c.*552G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291878	NM_013319.3(UBIAD1):c.*531C>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291877	NM_013319.3(UBIAD1):c.465_466del	UBIAD1	Deletion (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291876	NM_013319.3(UBIAD1):c.*420C>T	UBIAD1	Single nucleotide variant (intron variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291875	NM_013319.3(UBIAD1):c.*247T>C	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291874	NM_013319.3(UBIAD1):c.*239G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291873	NM_013319.3(UBIAD1):c.221_223del	UBIAD1	Deletion (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291872	NM_013319.3(UBIAD1):c.*148A>G	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291871	NM_013319.3(UBIAD1):c.*94G>A	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291870	NM_013319.3(UBIAD1):c.*18C>T	UBIAD1	Single nucleotide variant (intron variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291864	NM_013319.3(UBIAD1):c.867C>T (p.Thr289=)	UBIAD1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign
Select item 291863	NM_013319.3(UBIAD1):c.837C>T (p.Cys279=)	UBIAD1	Single nucleotide variant (synonymous variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291857	NM_013319.3(UBIAD1):c.751C>A (p.Leu251Ile)	UBIAD1 (L251I)	Single nucleotide variant (missense variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291856	NM_013319.3(UBIAD1):c.740C>T (p.Thr247Met)	UBIAD1 (T247M)	Single nucleotide variant (intron variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291855	NM_013319.3(UBIAD1):c.600G>A (p.Met200Ile)	UBIAD1 (M200I)	Single nucleotide variant (missense variant +1 more)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291826	NM_013319.3(UBIAD1):c.494T>G (p.Phe165Cys)	UBIAD1 (F165C)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291825	NM_013319.3(UBIAD1):c.452A>G (p.Tyr151Cys)	UBIAD1 (Y151C)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy +2 more	GBenign
Select item 291824	NM_013319.3(UBIAD1):c.417C>T (p.Tyr139=)	UBIAD1	Single nucleotide variant (synonymous variant)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291823	NM_013319.3(UBIAD1):c.370C>A (p.Arg124=)	UBIAD1	Single nucleotide variant (synonymous variant)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291822	NM_013319.3(UBIAD1):c.298T>G (p.Leu100Val)	UBIAD1 (L100V)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy +1 more	GBenign/Likely benign
Select item 291821	NM_013319.3(UBIAD1):c.224C>T (p.Ser75Phe)	UBIAD1 (S75F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 291820	NM_013319.3(UBIAD1):c.60A>C (p.Lys20Asn)	UBIAD1 (K20N)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy	GLikely benign
Select item 291819	NM_013319.3(UBIAD1):c.-4T>C	UBIAD1	Single nucleotide variant (5 prime UTR variant)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291818	NM_013319.3(UBIAD1):c.-47T>G	UBIAD1	Single nucleotide variant (5 prime UTR variant)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291817	NM_013319.3(UBIAD1):c.-104G>A	LOC129929401, UBIAD1	Single nucleotide variant (5 prime UTR variant)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 291816	NM_013319.3(UBIAD1):c.-195G>A	UBIAD1	Single nucleotide variant (5 prime UTR variant)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291815	NM_013319.3(UBIAD1):c.-311C>T	LOC129929400, UBIAD1	Single nucleotide variant (5 prime UTR variant)	Schnyder crystalline corneal dystrophy	GUncertain significance
Select item 41408	NM_013319.3(UBIAD1):c.530G>A (p.Gly177Glu)	UBIAD1 (G177E)	Single nucleotide variant (missense variant +1 more)	Schnyder crystalline corneal dystrophy	GPathogenic
Select item 864	NM_013319.3(UBIAD1):c.708C>G (p.Asp236Glu)	UBIAD1 (D236E)	Single nucleotide variant (missense variant +1 more)	Schnyder crystalline corneal dystrophy	GPathogenic
Select item 863	NM_013319.3(UBIAD1):c.556G>A (p.Gly186Arg)	UBIAD1 (G186R)	Single nucleotide variant (missense variant +1 more)	Schnyder crystalline corneal dystrophy	GPathogenic
Select item 862	NM_013319.3(UBIAD1):c.511T>C (p.Ser171Pro)	UBIAD1 (S171P)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy	GPathogenic
Select item 861	NM_013319.3(UBIAD1):c.335A>G (p.Asp112Gly)	UBIAD1 (D112G)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy	GPathogenic
Select item 860	NM_013319.3(UBIAD1):c.695A>G (p.Asn232Ser)	UBIAD1 (N232S)	Single nucleotide variant (intron variant +1 more)	Schnyder crystalline corneal dystrophy	GPathogenic
Select item 859	NM_013319.3(UBIAD1):c.524C>T (p.Thr175Ile)	UBIAD1 (T175I)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy	GPathogenic
Select item 858	NM_013319.3(UBIAD1):c.355A>G (p.Arg119Gly)	UBIAD1 (R119G)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy	GPathogenic
Select item 857	NM_013319.3(UBIAD1):c.529G>C (p.Gly177Arg)	UBIAD1 (G177R +1 more)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy	GPathogenic
Select item 856	NM_013319.3(UBIAD1):c.305A>G (p.Asn102Ser)	UBIAD1 (N102S)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy	GPathogenic

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Items: 97