ClinVar for MedGen (Select 6997) - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 905639	NM_145649.5(GCNT2):c.1126A>G (p.Thr376Ala)	GCNT2 (T376A +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 903802	NM_145649.5(GCNT2):c.*1362T>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 903801	NM_145649.5(GCNT2):c.*1242T>C	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 903800	NM_145649.5(GCNT2):c.*989C>T	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 903724	NM_145649.5(GCNT2):c.1038T>C (p.Ile346=)	GCNT2	Single nucleotide variant (synonymous variant)	Blood group, I system +1 more	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 903722	NM_145649.5(GCNT2):c.925+27511G>A	GCNT2	Single nucleotide variant (intron variant)	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 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 632467	NM_145649.5(GCNT2):c.1191dup (p.Pro398fs)	GCNT2 (P396fs +1 more)	Duplication (frameshift variant)	Blood group, I system	GUncertain significance
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 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 354741	NM_145649.5(GCNT2):c.*2529A>C	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354740	NM_145649.5(GCNT2):c.*2520C>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GBenign
Select item 354739	NM_145649.5(GCNT2):c.*2503G>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354738	NM_145649.5(GCNT2):c.*2452G>C	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GBenign
Select item 354736	NM_145649.5(GCNT2):c.*2224G>C	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354735	NM_145649.5(GCNT2):c.*2026A>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354734	NM_145649.5(GCNT2):c.*1990C>T	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354733	NM_145649.5(GCNT2):c.*1956C>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354732	NM_145649.5(GCNT2):c.*1733T>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GBenign
Select item 354730	NM_145649.5(GCNT2):c.*1386C>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354729	NM_145649.5(GCNT2):c.*1317G>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 354728	NM_145649.5(GCNT2):c.*1314C>T	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354727	NM_145649.5(GCNT2):c.*1174T>C	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GBenign
Select item 354726	NM_145649.5(GCNT2):c.*1112G>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GLikely benign
Select item 354725	NM_145649.5(GCNT2):c.*1074A>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354722	NM_145649.5(GCNT2):c.*939G>T	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GBenign
Select item 354721	NM_145649.5(GCNT2):c.*682G>C	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GBenign
Select item 354720	NM_145649.5(GCNT2):c.*671C>T	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GBenign
Select item 354719	NM_145649.5(GCNT2):c.*637A>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354718	NM_145649.5(GCNT2):c.*592A>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354717	NM_145649.5(GCNT2):c.*467T>C	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354716	NM_145649.5(GCNT2):c.*225G>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GBenign
Select item 354715	NM_145649.5(GCNT2):c.*196A>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GLikely benign
Select item 354714	NM_145649.5(GCNT2):c.*130C>T	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354713	NM_145649.5(GCNT2):c.*105C>T	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GBenign
Select item 354712	NM_145649.5(GCNT2):c.*104A>G	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GUncertain significance
Select item 354711	NM_145649.5(GCNT2):c.*93G>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	Blood group, I system	GLikely benign
Select item 354710	NM_145649.5(GCNT2):c.*81G>A	GCNT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 354709	NM_145649.5(GCNT2):c.1185G>A (p.Ala395=)	GCNT2	Single nucleotide variant (synonymous variant)	Blood group, I system	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 354693	NM_145649.5(GCNT2):c.925+25945G>A	GCNT2	Single nucleotide variant (intron variant)	Blood group, I system	GUncertain significance
Select item 354691	NM_145649.5(GCNT2):c.925+25913G>T	GCNT2	Single nucleotide variant (intron variant)	Blood group, I system +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 258156	NM_145649.5(GCNT2):c.1018+15C>G	GCNT2	Single nucleotide variant (intron variant)	not specified +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

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Items: 90