30791[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 57720	GRCh38/hg38 1p36.22(chr1:10637036-11293430)x3	ANGPTL7, C1orf127 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 368801	NM_013319.2(UBIAD1):c.-337C>T	LOC129929400, UBIAD1	Single nucleotide variant	Schnyder crystalline corneal dystrophy	GUncertain significance
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 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 291816	NM_013319.3(UBIAD1):c.-195G>A	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 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 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 291818	NM_013319.3(UBIAD1):c.-47T>G	UBIAD1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
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 2225809	NM_013319.3(UBIAD1):c.41T>G (p.Leu14Arg)	UBIAD1 (L14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3330630	NM_013319.3(UBIAD1):c.73G>A (p.Asp25Asn)	UBIAD1 (D25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3185657	NM_013319.3(UBIAD1):c.112C>A (p.Pro38Thr)	UBIAD1 (P38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 874961	NM_013319.3(UBIAD1):c.116A>G (p.Gln39Arg)	UBIAD1 (Q39R)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy +1 more	GConflicting classifications of pathogenicity
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 291821	NM_013319.3(UBIAD1):c.224C>T (p.Ser75Phe)	UBIAD1 (S75F)	Single nucleotide variant (missense variant)	not provided +1 more	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 3330631	NM_013319.3(UBIAD1):c.271G>C (p.Val91Leu)	UBIAD1 (V91L)	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 291822	NM_013319.3(UBIAD1):c.298T>G (p.Leu100Val)	UBIAD1 (L100V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 856	NM_013319.3(UBIAD1):c.305A>G (p.Asn102Ser)	UBIAD1 (N102S)	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 2072763	NM_013319.3(UBIAD1):c.351T>C (p.Asp117=)	UBIAD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 291823	NM_013319.3(UBIAD1):c.370C>A (p.Arg124=)	UBIAD1	Single nucleotide variant (synonymous variant)	Schnyder crystalline corneal dystrophy	GBenign
Select item 291824	NM_013319.3(UBIAD1):c.417C>T (p.Tyr139=)	UBIAD1	Single nucleotide variant (synonymous variant)	Schnyder crystalline corneal dystrophy +1 more	GBenign
Select item 291825	NM_013319.3(UBIAD1):c.452A>G (p.Tyr151Cys)	UBIAD1 (Y151C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 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 862	NM_013319.3(UBIAD1):c.511T>C (p.Ser171Pro)	UBIAD1 (S171P)	Single nucleotide variant (missense variant)	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 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 41408	NM_013319.3(UBIAD1):c.530G>A (p.Gly177Glu)	UBIAD1 (G177E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 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 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 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 2758651	NM_013319.3(UBIAD1):c.675C>G (p.Thr225=)	UBIAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 2764358	NM_013319.3(UBIAD1):c.765G>A (p.Thr255=)	UBIAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 291864	NM_013319.3(UBIAD1):c.867C>T (p.Thr289=)	UBIAD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 291870	NM_013319.3(UBIAD1):c.*18C>T	UBIAD1	Single nucleotide variant (intron variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
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 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 291872	NM_013319.3(UBIAD1):c.*148A>G	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
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 291873	NM_013319.3(UBIAD1):c.221_223del	UBIAD1	Deletion (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 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 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 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 291876	NM_013319.3(UBIAD1):c.*420C>T	UBIAD1	Single nucleotide variant (intron variant +1 more)	Schnyder crystalline corneal dystrophy	GBenign
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 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 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 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 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 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 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 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 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 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 291884	NM_013319.3(UBIAD1):c.*819G>A	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 291886	NM_013319.3(UBIAD1):c.*904T>C	UBIAD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign

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