ClinVar for Gene (Select 2651) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052839	NM_145649.5(GCNT2):c.820G>A (p.Ala274Thr)	GCNT2 (A274T)	Single nucleotide variant (missense variant)	GCNT2-related condition	GBenign
Select item 3052002	NM_145649.5(GCNT2):c.729C>T (p.Tyr243=)	GCNT2	Single nucleotide variant (synonymous variant)	GCNT2-related condition	GLikely benign
Select item 3051237	NM_145649.5(GCNT2):c.926-34540C>T	GCNT2	Single nucleotide variant (synonymous variant +1 more)	GCNT2-related condition	GLikely benign
Select item 3038653	NM_145649.5(GCNT2):c.861C>G (p.Leu287=)	GCNT2	Single nucleotide variant (synonymous variant)	GCNT2-related condition	GLikely benign
Select item 3033987	NM_145649.5(GCNT2):c.892G>A (p.Glu298Lys)	GCNT2 (E298K)	Single nucleotide variant (missense variant)	GCNT2-related condition	GLikely benign
Select item 3032228	NM_145649.5(GCNT2):c.846C>T (p.Leu282=)	GCNT2	Single nucleotide variant (synonymous variant)	GCNT2-related condition	GLikely benign
Select item 2918140	NM_001491.3(GCNT2):c.760del (p.His254fs)	GCNT2 (H254fs)	Deletion (frameshift variant +1 more)	Cataract 13 with adult I phenotype	GPathogenic
Select item 2867950	NM_145649.5(GCNT2):c.1121C>T (p.Pro374Leu)	GCNT2 (P374L +1 more)	Single nucleotide variant (missense variant)	Cataract 13 with adult I phenotype	GUncertain significance
Select item 2685194	GRCh37/hg19 6p24.3(chr6:10099993-10564232)x1	GCNT2, TFAP2A	Copy number loss	not provided	GPathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2656222	NM_145649.5(GCNT2):c.926-35284A>G	GCNT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2636617	NM_145649.5(GCNT2):c.926-35040G>A	GCNT2 (D108N)	Single nucleotide variant (missense variant +1 more)	GCNT2-related condition	GUncertain significance
Select item 2623917	NM_145649.5(GCNT2):c.1151A>G (p.His384Arg)	GCNT2 (H384R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424190	NC_000006.11:g.(?_10556657)_(10626840_?)del	GCNT2	Deletion	Cataract 13 with adult I phenotype	GPathogenic
Select item 2405367	NM_145649.5(GCNT2):c.1054G>A (p.Gly352Arg)	GCNT2 (G350R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401860	NM_145649.5(GCNT2):c.347C>T (p.Ala116Val)	GCNT2 (A116V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359197	NM_145649.5(GCNT2):c.694G>A (p.Val232Ile)	GCNT2 (V232I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335031	NM_145649.5(GCNT2):c.425A>T (p.Gln142Leu)	GCNT2 (Q142L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294675	NM_145649.5(GCNT2):c.862T>C (p.Ser288Pro)	GCNT2 (S288P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257325	NM_001491.3(GCNT2):c.104G>A (p.Arg35Lys)	GCNT2 (R35K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255019	NM_145649.5(GCNT2):c.617A>G (p.Tyr206Cys)	GCNT2 (Y206C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251008	NM_001491.3(GCNT2):c.646G>A (p.Gly216Arg)	GCNT2 (G216R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250933	NM_145649.5(GCNT2):c.640A>C (p.Asn214His)	GCNT2 (N214H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246926	NM_145649.5(GCNT2):c.567C>G (p.Asn189Lys)	GCNT2 (N189K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216518	NM_001491.3(GCNT2):c.460A>G (p.Met154Val)	GCNT2 (M154V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2054627	NM_001491.3(GCNT2):c.572A>G (p.Gln191Arg)	GCNT2 (Q191R)	Single nucleotide variant (missense variant +1 more)	Cataract 13 with adult I phenotype	GUncertain significance
Select item 1905602	NM_001491.3(GCNT2):c.671T>C (p.Ile224Thr)	GCNT2 (I224T)	Single nucleotide variant (intron variant +1 more)	Cataract 13 with adult I phenotype	GUncertain significance
Select item 1879645	NC_000006.12:g.10509132C>T	GCNT2	Single nucleotide variant	not provided	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1808091	GRCh37/hg19 6p24.3-24.2(chr6:10487302-10708232)x1	C6orf52, GCNT2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1706921	NM_145649.5(GCNT2):c.926-35472G>A	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1706920	NM_145649.5(GCNT2):c.926-35733C>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1697056	NM_145649.5(GCNT2):c.926-193A>G	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683746	NM_145649.5(GCNT2):c.558T>G (p.Tyr186Ter)	GCNT2 (Y186*)	Single nucleotide variant (nonsense)	Cataract 13 with adult I phenotype	GUncertain significance
Select item 1616698	NM_001491.3(GCNT2):c.558C>T (p.Ile186=)	GCNT2	Single nucleotide variant (synonymous variant +1 more)	Cataract 13 with adult I phenotype	GLikely benign
Select item 1527221	GRCh37/hg19 6p24.2(chr6:10620217-10901049)	C6orf52, GCM2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 1499083	NM_001491.3(GCNT2):c.96C>G (p.Ser32Arg)	GCNT2 (S32R)	Single nucleotide variant (missense variant +1 more)	Cataract 13 with adult I phenotype	GUncertain significance
Select item 1492800	NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu)	GCNT2 (K135E)	Single nucleotide variant (missense variant +1 more)	Cataract 13 with adult I phenotype	GUncertain significance
Select item 1437805	NM_145649.5(GCNT2):c.1000A>T (p.Arg334Ter)	GCNT2 (R332* +1 more)	Single nucleotide variant (nonsense)	Cataract 13 with adult I phenotype	GPathogenic
Select item 1421288	NC_000006.11:g.(?_10398650)_(10882026_?)dup	C6orf52, GCM2 +6 more	Duplication	not provided	GUncertain significance
Select item 1341052	GRCh37/hg19 6p24.3(chr6:10495235-10581415)x1	GCNT2	Copy number loss	not provided	GLikely benign
Select item 1340535	GRCh37/hg19 6p24.3-24.2(chr6:10543098-10640180)x1	GCNT2	Copy number loss	not provided	GLikely benign
Select item 1290731	NM_145649.5(GCNT2):c.1018+154C>T	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286956	NM_145649.5(GCNT2):c.-281-70T>C	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1286930	NM_145649.5(GCNT2):c.1018+288A>G	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285739	NM_145649.5(GCNT2):c.-26A>C	GCNT2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1285722	NM_145649.5(GCNT2):c.-58T>C	GCNT2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1282576	NM_145649.5(GCNT2):c.1019-86G>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281467	NM_145649.5(GCNT2):c.926-37C>T	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277355	NM_145649.5(GCNT2):c.925+25819G>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276434	NM_145649.5(GCNT2):c.925+27669del	GCNT2	Deletion (intron variant)	not provided	GBenign
Select item 1272672	NM_145649.5(GCNT2):c.926-34528A>G	GCNT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1270475	NM_145649.5(GCNT2):c.1018+252T>C	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269906	NM_145649.5(GCNT2):c.1019-238C>T	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266532	NM_145649.5(GCNT2):c.926-34655A>G	GCNT2 (H236R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1244006	NM_145649.5(GCNT2):c.926-35604A>G	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243404	NM_145649.5(GCNT2):c.1018+191T>C	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242272	NM_145649.5(GCNT2):c.926-35578A>C	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1238450	NM_145649.5(GCNT2):c.926-35471G>A	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1234824	NM_145649.5(GCNT2):c.926-34163G>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233305	NM_145649.5(GCNT2):c.-131A>G	GCNT2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1223731	NM_145649.5(GCNT2):c.926-34179T>C	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215107	NM_145649.5(GCNT2):c.925+167A>T	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203737	NM_145649.5(GCNT2):c.926-35732G>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191362	NM_145649.5(GCNT2):c.925+104C>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182271	NM_145649.5(GCNT2):c.305C>G (p.Thr102Ser)	GCNT2 (T102S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1174626	NM_145649.5(GCNT2):c.926-34546C>G	GCNT2 (D272E)	Single nucleotide variant (missense variant +1 more)	Cataract 13 with adult I phenotype +1 more	GBenign
Select item 1147640	NM_001491.3(GCNT2):c.816C>T (p.Ala272=)	GCNT2	Single nucleotide variant (synonymous variant +1 more)	Cataract 13 with adult I phenotype	GLikely benign
Select item 1092022	NM_145649.5(GCNT2):c.1155C>T (p.Arg385=)	GCNT2	Single nucleotide variant (synonymous variant)	Cataract 13 with adult I phenotype	GLikely benign
Select item 1065633	NM_145649.5(GCNT2):c.14G>A (p.Trp5Ter)	GCNT2 (W5*)	Single nucleotide variant (nonsense)	Cataract 13 with adult I phenotype	GPathogenic
Select item 1035633	NC_000006.11:g.(?_10556657)_(10775712_?)del	C6orf52, GCNT2 +4 more	Deletion	not provided	GUncertain significance
Select item 1020672	NM_001491.3(GCNT2):c.722A>G (p.Tyr241Cys)	GCNT2 (Y241C)	Single nucleotide variant (missense variant +1 more)	Cataract 13 with adult I phenotype	GUncertain significance
Select item 979718	GRCh37/hg19 6p24.3-24.2(chr6:10514491-10677096)x1	C6orf52, GCNT2	Copy number loss	not provided	GUncertain significance
Select item 907219	NM_145649.5(GCNT2):c.*2668A>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 907218	NM_145649.5(GCNT2):c.*2521C>T	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GLikely benign
Select item 907158	NM_145649.5(GCNT2):c.*916A>C	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 907157	NM_145649.5(GCNT2):c.*768G>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GBenign
Select item 907156	NM_145649.5(GCNT2):c.*669C>T	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 907155	NM_145649.5(GCNT2):c.*608T>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 907095	NM_001491.3(GCNT2):c.553G>A (p.Val185Ile)	GCNT2 (V185I)	Single nucleotide variant (missense variant +1 more)	Blood group, I system	GUncertain significance
Select item 907094	NM_001491.3(GCNT2):c.476A>G (p.Tyr159Cys)	GCNT2 (Y159C)	Single nucleotide variant (missense variant +1 more)	Blood group, I system	GUncertain significance
Select item 907093	NM_001491.3(GCNT2):c.389C>G (p.Ala130Gly)	GCNT2 (A130G)	Single nucleotide variant (missense variant +1 more)	Blood group, I system	GUncertain significance
Select item 907092	NM_001491.3(GCNT2):c.344T>C (p.Ile115Thr)	GCNT2 (I115T)	Single nucleotide variant (missense variant +1 more)	Blood group, I system	GUncertain significance
Select item 906223	NM_145649.5(GCNT2):c.*2482T>C	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 906222	NM_145649.5(GCNT2):c.*2330G>T	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GLikely benign
Select item 906221	NM_145649.5(GCNT2):c.*2174G>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GLikely benign
Select item 906220	NM_145649.5(GCNT2):c.*2136G>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 906152	NM_145649.5(GCNT2):c.*398T>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GBenign
Select item 906151	NM_145649.5(GCNT2):c.*272T>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 906150	NM_145649.5(GCNT2):c.*189T>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 906086	NM_145649.5(GCNT2):c.925+26536A>T	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, I system	GUncertain significance
Select item 906085	NM_145649.5(GCNT2):c.925+26338G>A	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, I system	GUncertain significance
Select item 905708	NM_145649.5(GCNT2):c.*1883T>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 905707	NM_145649.5(GCNT2):c.*1862G>C	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 905706	NM_145649.5(GCNT2):c.*1857G>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 905705	NM_145649.5(GCNT2):c.*1840A>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 905704	NM_145649.5(GCNT2):c.*1432C>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GLikely benign
Select item 905641	NM_145649.5(GCNT2):c.*19A>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 905640	NM_145649.5(GCNT2):c.1156G>A (p.Glu386Lys)	GCNT2 (E384K +1 more)	Single nucleotide variant (missense variant)	Blood group, I system	GUncertain significance

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