ClinVar for MedGen (Select 811703) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2424190	NC_000006.11:g.(?_10556657)_(10626840_?)del	GCNT2	Deletion	Cataract 13 with adult I phenotype	GPathogenic
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 (missense variant +1 more)	Cataract 13 with adult I phenotype	GUncertain significance
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 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)	Inborn genetic diseases +1 more	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 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 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 844536	NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys)	GCNT2 (Y347C +1 more)	Single nucleotide variant (missense variant)	Cataract 13 with adult I phenotype	GPathogenic/Likely pathogenic
Select item 830756	NC_000006.12:g.(?_10556404)_(10626627_?)del	GCNT2	Deletion	Cataract 13 with adult I phenotype	GPathogenic
Select item 830705	NC_000006.12:g.(?_10528892)_(10557362_?)del	GCNT2	Deletion	Cataract 13 with adult I phenotype	GPathogenic
Select item 701963	NM_145649.5(GCNT2):c.926-34857G>A	GCNT2 (A169T)	Single nucleotide variant (missense variant +1 more)	Cataract 13 with adult I phenotype +1 more	GBenign/Likely benign
Select item 571381	NM_001491.3(GCNT2):c.710_711insT (p.Lys237fs)	GCNT2 (K237fs)	Insertion (frameshift variant +1 more)	Cataract 13 with adult I phenotype	GPathogenic
Select item 571035	NM_001491.3(GCNT2):c.60del (p.Ile20fs)	GCNT2 (I20fs)	Deletion (frameshift variant +1 more)	Cataract 13 with adult I phenotype	GPathogenic
Select item 474042	NM_001491.3(GCNT2):c.577T>G (p.Phe193Val)	GCNT2 (F193V)	Single nucleotide variant (missense variant +1 more)	Cataract 13 with adult I phenotype	GUncertain significance
Select item 474041	NM_145649.5(GCNT2):c.1100A>C (p.Lys367Thr)	GCNT2 (K365T +1 more)	Single nucleotide variant (missense variant)	Cataract 13 with adult I phenotype	GUncertain significance
Select item 391563	NM_145649.5(GCNT2):c.1018G>A (p.Gly340Ser)	GCNT2 (G338S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354707	NM_001491.3(GCNT2):c.687T>C (p.Tyr229=)	GCNT2	Single nucleotide variant (synonymous variant +1 more)	Blood group, I system +2 more	GBenign
Select item 354706	NM_001491.3(GCNT2):c.630T>G (p.Gly210=)	GCNT2	Single nucleotide variant (synonymous variant +1 more)	Blood group, I system +1 more	GBenign/Likely benign
Select item 354705	NM_001491.3(GCNT2):c.517A>G (p.Arg173Gly)	GCNT2 (R173G)	Single nucleotide variant (missense variant +1 more)	Blood group, I system +1 more	GBenign
Select item 354703	NM_001491.3(GCNT2):c.330G>A (p.Arg110=)	GCNT2	Single nucleotide variant (synonymous variant +1 more)	Blood group, I system +2 more	GBenign
Select item 354701	NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg)	GCNT2 (P85R)	Single nucleotide variant (missense variant +1 more)	Blood group, I system +1 more	GConflicting classifications of pathogenicity
Select item 354699	NM_001491.3(GCNT2):c.8T>C (p.Leu3Ser)	GCNT2 (L3S)	Single nucleotide variant (missense variant +1 more)	Blood group, I system +2 more	GBenign
Select item 258158	NM_001491.3(GCNT2):c.741G>A (p.Ala247=)	GCNT2	Single nucleotide variant (synonymous variant +1 more)	Cataract 13 with adult I phenotype +1 more	GBenign
Select item 258157	NM_001491.3(GCNT2):c.216C>T (p.Cys72=)	GCNT2	Single nucleotide variant (synonymous variant +1 more)	Cataract 13 with adult I phenotype +3 more	GBenign
Select item 225372	NM_001491.3(GCNT2):c.259_262del (p.Ser87fs)	GCNT2 (S87fs)	Deletion (frameshift variant +1 more)	Cataract 13 with adult I phenotype +1 more	GUncertain significance
Select item 191204	NM_145649.5(GCNT2):c.1025A>G (p.Tyr342Cys)	GCNT2 (Y342C +1 more)	Single nucleotide variant (missense variant)	Cataract 13 with adult I phenotype	GUncertain significance
Select item 9130	NM_001491.2(GCNT2):c.-117_*41del	GCNT2	Deletion	Cataract 13 with adult I phenotype	GPathogenic
Select item 9129	NM_145649.5(GCNT2):c.1154G>A (p.Arg385His)	GCNT2 (R383H +1 more)	Single nucleotide variant (missense variant)	Cataract 13 with adult I phenotype	GConflicting classifications of pathogenicity
Select item 9128	NM_145649.5(GCNT2):c.1049G>A (p.Gly350Glu)	GCNT2 (G348E +1 more)	Single nucleotide variant (missense variant)	Cataract 13 with adult I phenotype	GPathogenic

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Items: 38