GCNT2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 1879645	NC_000006.12:g.10509132C>T	GCNT2	Single nucleotide variant	not provided	GUncertain significance
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 1233305	NM_145649.5(GCNT2):c.-131A>G	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 1285739	NM_145649.5(GCNT2):c.-26A>C	GCNT2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 3349499	NM_145649.5(GCNT2):c.142G>A (p.Ala48Thr)	GCNT2 (A48T)	Single nucleotide variant (missense variant)	GCNT2-related disorder	GUncertain significance
Select item 1182271	NM_145649.5(GCNT2):c.305C>G (p.Thr102Ser)	GCNT2 (T102S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2335031	NM_145649.5(GCNT2):c.425A>T (p.Gln142Leu)	GCNT2 (Q142L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 9131	NM_145649.5(GCNT2):c.505G>A (p.Ala169Thr)	GCNT2 (A169T)	Single nucleotide variant (missense variant)	ADULT i BLOOD GROUP PHENOTYPE	GPathogenic
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 2246926	NM_145649.5(GCNT2):c.567C>G (p.Asn189Lys)	GCNT2 (N189K)	Single nucleotide variant (missense variant)	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 2250933	NM_145649.5(GCNT2):c.640A>C (p.Asn214His)	GCNT2 (N214H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 9132	NM_145649.5(GCNT2):c.683G>A (p.Arg228Gln)	GCNT2 (R228Q)	Single nucleotide variant (missense variant)	ADULT i BLOOD GROUP PHENOTYPE	GPathogenic
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 3052002	NM_145649.5(GCNT2):c.729C>T (p.Tyr243=)	GCNT2	Single nucleotide variant (synonymous variant)	GCNT2-related disorder	GLikely benign
Select item 3052839	NM_145649.5(GCNT2):c.820G>A (p.Ala274Thr)	GCNT2 (A274T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3032228	NM_145649.5(GCNT2):c.846C>T (p.Leu282=)	GCNT2	Single nucleotide variant (synonymous variant)	GCNT2-related disorder	GLikely benign
Select item 3038653	NM_145649.5(GCNT2):c.861C>G (p.Leu287=)	GCNT2	Single nucleotide variant (synonymous variant)	GCNT2-related disorder	GLikely benign
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 3033987	NM_145649.5(GCNT2):c.892G>A (p.Glu298Lys)	GCNT2 (E298K)	Single nucleotide variant (missense variant)	GCNT2-related disorder	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 1215107	NM_145649.5(GCNT2):c.925+167A>T	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 155113	GRCh38/hg38 6p24.3-24.2(chr6:10542021-10810835)x1	C6orf52, GCNT2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 149264	GRCh38/hg38 6p24.3-24.2(chr6:10542021-11058096)x1	C6orf52, ELOVL2 +23 more	Copy number loss	See cases	GUncertain significance
Select item 1277355	NM_145649.5(GCNT2):c.925+25819G>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 354691	NM_145649.5(GCNT2):c.925+25913G>T	GCNT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 354692	NM_145649.5(GCNT2):c.925+25926_925+25931delinsCCCCACTTTTT	GCNT2	Indel (intron variant)	Adult i blood group with or without congenital cataract	GUncertain significance
Select item 354693	NM_145649.5(GCNT2):c.925+25945G>A	GCNT2	Single nucleotide variant (intron variant)	Blood group, I system	GUncertain significance
Select item 354694	NM_145649.5(GCNT2):c.925+26039G>A	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, I system	GUncertain significance
Select item 905577	NM_145649.5(GCNT2):c.925+26049C>T	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, I system	GUncertain significance
Select item 905578	NM_145649.5(GCNT2):c.925+26059A>G	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, I system	GUncertain significance
Select item 354695	NM_145649.5(GCNT2):c.925+26075C>T	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, I system	GUncertain significance
Select item 905579	NM_145649.5(GCNT2):c.925+26138C>T	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, I system	GUncertain significance
Select item 905580	NM_145649.5(GCNT2):c.925+26157C>G	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, I system	GUncertain significance
Select item 354696	NM_145649.5(GCNT2):c.925+26208G>A	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, I system	GUncertain significance
Select item 354697	NM_145649.5(GCNT2):c.925+26270G>C	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, I system	GBenign
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 354698	NM_145649.5(GCNT2):c.925+26357G>T	GCNT2	Single nucleotide variant (intron variant +1 more)	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 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 354700	NM_001491.3(GCNT2):c.49ATT[1] (p.Ile18del)	GCNT2 (I18del)	Microsatellite (inframe_deletion +1 more)	Adult i blood group with or without congenital cataract	GUncertain significance
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 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 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 632465	NM_001491.3(GCNT2):c.169_187dup (p.Lys63fs)	GCNT2 (K63fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GUncertain significance
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 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 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 354702	NM_001491.3(GCNT2):c.303C>T (p.Ile101=)	GCNT2	Single nucleotide variant (synonymous variant +1 more)	Blood group, I system	GUncertain significance
Select item 3355412	NM_001491.3(GCNT2):c.306T>G (p.His102Gln)	GCNT2 (H102Q)	Single nucleotide variant (missense variant +1 more)	GCNT2-related disorder	GUncertain significance
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 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 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 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 354704	NM_001491.3(GCNT2):c.442G>A (p.Ala148Thr)	GCNT2 (A148T)	Single nucleotide variant (missense variant +1 more)	Blood group, I system	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 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 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 632466	NM_001491.3(GCNT2):c.552C>G (p.Tyr184Ter)	GCNT2 (Y184*)	Single nucleotide variant (nonsense +1 more)	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 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 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 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 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 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 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 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 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 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 3345983	NM_001491.3(GCNT2):c.736A>G (p.Thr246Ala)	GCNT2 (T246A)	Single nucleotide variant (missense variant +1 more)	GCNT2-related disorder	GUncertain significance
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 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 354708	NM_001491.3(GCNT2):c.761A>G (p.His254Arg)	GCNT2 (H254R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 903720	NM_001491.3(GCNT2):c.769A>T (p.Thr257Ser)	GCNT2 (T257S)	Single nucleotide variant (missense variant +1 more)	Blood group, I system	GUncertain significance
Select item 903721	NM_001491.3(GCNT2):c.772A>G (p.Ile258Val)	GCNT2 (I258V)	Single nucleotide variant (missense variant +1 more)	Blood group, I system	GUncertain significance
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 903722	NM_145649.5(GCNT2):c.925+27511G>A	GCNT2	Single nucleotide variant (intron variant)	Blood group, I system	GUncertain significance
Select item 903723	NM_145649.5(GCNT2):c.925+27519C>T	GCNT2	Single nucleotide variant (intron variant)	Blood group, I system	GUncertain significance
Select item 1276434	NM_145649.5(GCNT2):c.925+27669del	GCNT2	Deletion (intron variant)	not provided	GBenign
Select item 145912	GRCh38/hg38 6p24.3-24.2(chr6:10564018-10629482)x1	GCNT2, LOC123575665	Copy number loss	See cases	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 1203737	NM_145649.5(GCNT2):c.926-35732G>A	GCNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244006	NM_145649.5(GCNT2):c.926-35604A>G	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 1706921	NM_145649.5(GCNT2):c.926-35472G>A	GCNT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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