ClinVar for MedGen (Select 369409) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1520723	NM_032575.3(GLIS2):c.1475C>T (p.Thr492Met)	GLIS2 (T492M)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GUncertain significance
Select item 1367895	NM_032575.3(GLIS2):c.1129G>A (p.Gly377Ser)	GLIS2 (G377S)	Single nucleotide variant (missense variant)	Nephronophthisis 7 +1 more	GUncertain significance
Select item 1299703	NM_032575.3(GLIS2):c.570_584del (p.Asn190_Val194del)	GLIS2	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028964	NM_032575.3(GLIS2):c.1244C>T (p.Pro415Leu)	GLIS2 (P415L)	Single nucleotide variant (missense variant)	Nephronophthisis 7 +1 more	GUncertain significance
Select item 1025251	NM_032575.3(GLIS2):c.1559C>T (p.Pro520Leu)	GLIS2 (P520L)	Single nucleotide variant (missense variant)	Nephronophthisis 7 +1 more	GUncertain significance
Select item 976521	NM_032575.3(GLIS2):c.234C>G (p.Leu78=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7 +1 more	GLikely benign
Select item 887794	NM_032575.3(GLIS2):c.*1710C>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 887793	NM_032575.3(GLIS2):c.*1553G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 887733	NM_032575.3(GLIS2):c.*516C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 887732	NM_032575.3(GLIS2):c.*204G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 887731	NM_032575.3(GLIS2):c.*199G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 887668	NM_032575.3(GLIS2):c.1040A>C (p.Tyr347Ser)	GLIS2 (Y347S)	Single nucleotide variant (missense variant)	Nephronophthisis 7	GUncertain significance
Select item 887667	NM_032575.3(GLIS2):c.1033G>A (p.Gly345Ser)	GLIS2 (G345S)	Single nucleotide variant (missense variant)	Nephronophthisis 7 +1 more	GUncertain significance
Select item 887666	NM_032575.3(GLIS2):c.903C>T (p.His301=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7 +1 more	GConflicting classifications of pathogenicity
Select item 887479	NM_032575.3(GLIS2):c.801C>T (p.Tyr267=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7	GUncertain significance
Select item 887478	NM_032575.3(GLIS2):c.546G>A (p.Leu182=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7	GUncertain significance
Select item 886547	NM_032575.3(GLIS2):c.*1319A>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 886546	NM_032575.3(GLIS2):c.*1150C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 886545	NM_032575.3(GLIS2):c.*1095G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 886477	NM_032575.3(GLIS2):c.*125G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 885520	NM_032575.3(GLIS2):c.*902C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 885519	NM_032575.3(GLIS2):c.*874C>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GLikely benign
Select item 885518	NM_032575.3(GLIS2):c.*849G>C	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 885457	NM_032575.3(GLIS2):c.1526T>G (p.Val509Gly)	GLIS2 (V509G)	Single nucleotide variant (missense variant)	Nephronophthisis 7	GUncertain significance
Select item 885456	NM_032575.3(GLIS2):c.1510T>C (p.Leu504=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7	GUncertain significance
Select item 885389	NM_032575.3(GLIS2):c.523-9C>T	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis 7	GUncertain significance
Select item 885388	NM_032575.3(GLIS2):c.479C>G (p.Pro160Arg)	GLIS2 (P160R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 885387	NM_032575.3(GLIS2):c.476C>T (p.Ser159Leu)	GLIS2 (S159L)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GUncertain significance
Select item 885386	NM_032575.3(GLIS2):c.346-4C>G	GLIS2	Single nucleotide variant (intron variant)	Nephronophthisis 7	GUncertain significance
Select item 884649	NM_032575.3(GLIS2):c.*2058G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 884648	NM_032575.3(GLIS2):c.*2021C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 884647	NM_032575.3(GLIS2):c.*1998C>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 884646	NM_032575.3(GLIS2):c.*1931C>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 884645	NM_032575.3(GLIS2):c.*1911G>C	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 884588	NM_032575.3(GLIS2):c.*757G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 884587	NM_032575.3(GLIS2):c.*663C>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 884521	NM_032575.3(GLIS2):c.1256C>T (p.Ser419Leu)	GLIS2 (S419L)	Single nucleotide variant (missense variant)	Nephronophthisis +1 more	GUncertain significance
Select item 884520	NM_032575.3(GLIS2):c.1177G>A (p.Gly393Arg)	GLIS2 (G393R)	Single nucleotide variant (missense variant)	Nephronophthisis 7 +3 more	GUncertain significance
Select item 884457	NM_032575.3(GLIS2):c.56C>T (p.Ala19Val)	GLIS2 (A19V)	Single nucleotide variant (missense variant)	Nephronophthisis +1 more	GUncertain significance
Select item 860258	NM_032575.3(GLIS2):c.995G>A (p.Arg332His)	GLIS2 (R332H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 697095	NM_032575.3(GLIS2):c.477G>A (p.Ser159=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7 +1 more	GBenign/Likely benign
Select item 697059	NM_032575.3(GLIS2):c.849C>T (p.His283=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7 +1 more	GBenign/Likely benign
Select item 697002	NM_032575.3(GLIS2):c.1284G>A (p.Leu428=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7 +1 more	GLikely benign
Select item 696775	NM_032575.3(GLIS2):c.789C>T (p.Tyr263=)	GLIS2	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GLikely benign
Select item 640688	NM_032575.3(GLIS2):c.1388C>T (p.Thr463Met)	GLIS2 (T463M)	Single nucleotide variant (missense variant)	Nephronophthisis 7 +1 more	GUncertain significance
Select item 596805	NM_032575.3(GLIS2):c.1560G>A (p.Pro520=)	GLIS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 568178	NM_032575.3(GLIS2):c.101G>A (p.Arg34His)	GLIS2 (R34H)	Single nucleotide variant (missense variant)	Nephronophthisis +1 more	GUncertain significance
Select item 531627	NM_032575.3(GLIS2):c.1273G>A (p.Gly425Arg)	GLIS2 (G425R)	Single nucleotide variant (missense variant)	Nephronophthisis +1 more	GUncertain significance
Select item 462720	NM_032575.3(GLIS2):c.1464G>A (p.Leu488=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7 +3 more	GBenign/Likely benign
Select item 416611	NM_032575.3(GLIS2):c.627C>T (p.Cys209=)	GLIS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 319265	NM_032575.3(GLIS2):c.*1988A>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319264	NM_032575.3(GLIS2):c.*1830C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319263	NM_032575.3(GLIS2):c.*1826C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 319262	NM_032575.3(GLIS2):c.*1791T>C	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319261	NM_032575.3(GLIS2):c.*1761C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319260	NM_032575.3(GLIS2):c.*1700G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319259	NM_032575.3(GLIS2):c.*1628C>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319257	NM_032575.3(GLIS2):c.*1465G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319256	NM_032575.3(GLIS2):c.*1333C>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7 +1 more	GBenign
Select item 319255	NM_032575.3(GLIS2):c.*1203C>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 319254	NM_032575.3(GLIS2):c.*1176C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GBenign
Select item 319253	NM_032575.3(GLIS2):c.*1161G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319252	NM_032575.3(GLIS2):c.*1130G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 319251	NM_032575.3(GLIS2):c.*1082G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319250	NM_032575.3(GLIS2):c.*1046G>C	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319249	NM_032575.3(GLIS2):c.*916G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7 +1 more	GUncertain significance
Select item 319247	NM_032575.3(GLIS2):c.*881C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319246	NM_032575.3(GLIS2):c.*856C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319245	NM_032575.3(GLIS2):c.*796G>C	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GLikely benign
Select item 319244	NM_032575.3(GLIS2):c.*762C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319243	NM_032575.3(GLIS2):c.*712C>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319242	NM_032575.3(GLIS2):c.*632G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319241	NM_032575.3(GLIS2):c.*614G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7 +1 more	GBenign
Select item 319240	NM_032575.3(GLIS2):c.*611G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319239	NM_032575.3(GLIS2):c.*551C>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319238	NM_032575.3(GLIS2):c.*525C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319237	NM_032575.3(GLIS2):c.*437A>C	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319236	NM_032575.3(GLIS2):c.*399T>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GLikely benign
Select item 319234	NM_032575.3(GLIS2):c.*278C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GBenign
Select item 319233	NM_032575.3(GLIS2):c.*232T>G	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7 +1 more	GBenign/Likely benign
Select item 319232	NM_032575.3(GLIS2):c.*173G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7 +1 more	GBenign
Select item 319231	NM_032575.3(GLIS2):c.*54C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GLikely benign
Select item 319230	NM_032575.3(GLIS2):c.*43G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319229	NM_032575.3(GLIS2):c.*23G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GLikely benign
Select item 319228	NM_032575.3(GLIS2):c.*12G>A	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319227	NM_032575.3(GLIS2):c.*2C>T	GLIS2	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 7	GUncertain significance
Select item 319226	NM_032575.3(GLIS2):c.1569G>A (p.Val523=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7 +1 more	GConflicting classifications of pathogenicity
Select item 319225	NM_032575.3(GLIS2):c.1476G>A (p.Thr492=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis +2 more	GBenign/Likely benign
Select item 319224	NM_032575.3(GLIS2):c.1431C>T (p.Pro477=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 319223	NM_032575.3(GLIS2):c.1413C>G (p.Ser471Arg)	GLIS2 (S471R)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GLikely benign
Select item 319222	NM_032575.3(GLIS2):c.1403C>T (p.Thr468Met)	GLIS2 (T468M)	Single nucleotide variant (missense variant)	Nephronophthisis 7 +1 more	GUncertain significance
Select item 319221	NM_032575.3(GLIS2):c.1355C>A (p.Pro452His)	GLIS2 (P452H)	Single nucleotide variant (missense variant)	Nephronophthisis 7	GUncertain significance
Select item 319220	NM_032575.3(GLIS2):c.1350G>A (p.Ser450=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis +2 more	GBenign
Select item 319219	NM_032575.3(GLIS2):c.1335G>C (p.Glu445Asp)	GLIS2 (E445D)	Single nucleotide variant (missense variant)	Nephronophthisis 7	GUncertain significance
Select item 319218	NM_032575.3(GLIS2):c.1326C>T (p.Ala442=)	GLIS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 319217	NM_032575.3(GLIS2):c.1128C>T (p.Pro376=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 319216	NM_032575.3(GLIS2):c.1011G>A (p.Pro337=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7 +3 more	GBenign/Likely benign
Select item 319215	NM_032575.3(GLIS2):c.1010C>T (p.Pro337Leu)	GLIS2 (P337L)	Single nucleotide variant (missense variant)	Nephronophthisis 7 +2 more	GBenign/Likely benign
Select item 319214	NM_032575.3(GLIS2):c.747C>T (p.Asn249=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7	GUncertain significance
Select item 319213	NM_032575.3(GLIS2):c.651C>T (p.Asn217=)	GLIS2	Single nucleotide variant (synonymous variant)	Nephronophthisis 7	GUncertain significance

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