Related gene-specific medical variations for Gene (Select 64897) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370444	NM_022895.3(C12orf43):c.3089_3099del	C12orf43, HNF1A	Deletion (3 prime UTR variant +1 more)	Monogenic diabetes	GLikely pathogenicFDA Recognized database
Select item 3338657	NM_000545.8(HNF1A):c.1853_1854del (p.Ile618fs)	C12orf43, HNF1A (I554fs +2 more)	Deletion (3 prime UTR variant +1 more)	Monogenic diabetes	GLikely pathogenicFDA Recognized database
Select item 3251741	NM_000545.8(HNF1A):c.*15C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3018225	NM_000545.8(HNF1A):c.1769-8C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3000442	NM_000545.8(HNF1A):c.1848C>T (p.Ser616=)	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2781205	NM_000545.8(HNF1A):c.1788G>A (p.Val596=)	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2744173	NM_000545.8(HNF1A):c.1770G>A (p.Val590=)	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2720995	NM_000545.8(HNF1A):c.1791G>A (p.Leu597=)	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2195566	NM_000545.8(HNF1A):c.1848C>A (p.Ser616Arg)	C12orf43, HNF1A (S616R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2186584	NM_000545.8(HNF1A):c.1874A>G (p.Gln625Arg)	C12orf43, HNF1A (Q625R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2072448	NM_000545.8(HNF1A):c.1821G>T (p.Gln607His)	C12orf43, HNF1A (Q614H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1781620	NM_000545.8(HNF1A):c.1869del (p.Thr624fs)	C12orf43, HNF1A (T624fs +2 more)	Deletion (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1727241	NM_000545.8(HNF1A):c.*1071G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1727229	NM_000545.8(HNF1A):c.*267T>G	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1727228	NM_000545.8(HNF1A):c.*193C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1727226	NM_000545.8(HNF1A):c.*39G>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1700003	NM_000545.8(HNF1A):c.1786del (p.Val596fs)	C12orf43, HNF1A (V596fs +2 more)	Deletion (3 prime UTR variant +1 more)	Monogenic diabetes	GLikely pathogenicFDA Recognized database
Select item 1700002	NM_000545.8(HNF1A):c.1780A>G (p.Ser594Gly)	C12orf43, HNF1A (S594G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GBenignFDA Recognized database
Select item 1687090	NM_000545.8(HNF1A):c.1873C>T (p.Gln625Ter)	C12orf43, HNF1A (Q625* +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1687087	NM_000545.8(HNF1A):c.1840_1841del (p.Asn614fs)	C12orf43, HNF1A (N614fs +2 more)	Deletion (3 prime UTR variant +1 more)	Monogenic diabetes	GLikely pathogenicFDA Recognized database
Select item 1687086	NM_000545.8(HNF1A):c.1822_1823del (p.Ser608fs)	HNF1A, C12orf43 (S608fs +2 more)	Microsatellite (3 prime UTR variant +1 more)	Monogenic diabetes	GPathogenicFDA Recognized database
Select item 1687085	NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)	C12orf43, HNF1A (S593T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1687084	NM_000545.8(HNF1A):c.1802del (p.Ser600_Ser601insTer)	C12orf43, HNF1A	Deletion (3 prime UTR variant +2 more)	Monogenic diabetes	GLikely pathogenicFDA Recognized database
Select item 1687083	NM_000545.8(HNF1A):c.1803dup (p.Asp602fs)	C12orf43, HNF1A (D602fs +2 more)	Duplication (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1687082	NM_000545.8(HNF1A):c.1769-1G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1687077	NM_000545.8(HNF1A):c.1864_1890dup (p.Ser630_Gln631insIleSerThrGlnMetAlaSerSerSer)	C12orf43, HNF1A	Duplication (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1687074	NM_000545.8(HNF1A):c.1780A>C (p.Ser594Arg)	C12orf43, HNF1A (S594R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1687070	NM_000545.8(HNF1A):c.1772_1773del (p.Ser591fs)	C12orf43, HNF1A (S591fs +2 more)	Deletion (3 prime UTR variant +1 more)	Monogenic diabetes	GLikely pathogenicFDA Recognized database
Select item 1687069	NM_000545.8(HNF1A):c.1816G>A (p.Gly606Ser)	C12orf43, HNF1A (G606S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GBenignFDA Recognized database
Select item 1687068	NM_000545.8(HNF1A):c.1824C>G (p.Ser608Arg)	C12orf43, HNF1A (S608R +2 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1687067	NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)	C12orf43, HNF1A (H609Y +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1436525	NM_000545.8(HNF1A):c.1774T>C (p.Ser592Pro)	C12orf43, HNF1A (S592P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1315998	NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile)	C12orf43, HNF1A (S594I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GPathogenicFDA Recognized database
Select item 1249732	NM_000545.8(HNF1A):c.1769-159_1769-158insTT	C12orf43, HNF1A	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1051750	NM_000545.8(HNF1A):c.1769-3C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 994545	NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala)	C12orf43, HNF1A (V590A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance/Uncertain risk allele
Select item 972765	NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile)	C12orf43, HNF1A (V617I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GBenignFDA Recognized database
Select item 972764	NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys)	C12orf43, HNF1A (E619K +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 3 +2 more	GConflicting classifications of pathogenicity
Select item 883302	NM_000545.8(HNF1A):c.*196G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 883301	NM_000545.8(HNF1A):c.*193C>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3	GUncertain significance
Select item 883300	NM_000545.8(HNF1A):c.*39G>C	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3	GUncertain significance
Select item 882301	NM_000545.8(HNF1A):c.*1165C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 882300	NM_000545.8(HNF1A):c.*1090T>C	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 882299	NM_000545.8(HNF1A):c.*1044G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 882298	NM_000545.8(HNF1A):c.*864C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 880943	NM_000545.8(HNF1A):c.*621C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 880942	NM_000545.8(HNF1A):c.*589C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GBenign/Likely benign
Select item 880941	NM_000545.8(HNF1A):c.*335C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 802898	NM_000545.8(HNF1A):c.*865G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GBenign/Likely benign
Select item 673537	NM_000545.8(HNF1A):c.1769-24T>C	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 586790	NM_000545.8(HNF1A):c.1800C>T (p.Ser600=)	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 522535	NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs)	C12orf43, HNF1A (S615fs +2 more)	Deletion (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 438709	NM_000545.8(HNF1A):c.1819dup (p.Gln607fs)	C12orf43, HNF1A (Q607fs +2 more)	Duplication (frameshift variant +1 more)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 377966	NM_000545.8(HNF1A):c.*5G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 307476	NM_000545.8(HNF1A):c.*1312C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 307475	NM_000545.8(HNF1A):c.*1268G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 3 +2 more	GBenign
Select item 307474	NM_000545.8(HNF1A):c.*1071G>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 307473	NM_000545.8(HNF1A):c.*1070C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 307472	NM_000545.8(HNF1A):c.*939G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 307471	NM_000545.8(HNF1A):c.*908G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +2 more	GBenign/Likely benign
Select item 307470	NM_000545.8(HNF1A):c.*603G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 307469	NM_000545.8(HNF1A):c.*447T>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GBenign
Select item 307468	NM_000545.8(HNF1A):c.*438G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +2 more	GBenign
Select item 307467	NM_000545.8(HNF1A):c.*391G>C	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 307466	NM_000545.8(HNF1A):c.*267T>C	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3	GLikely benign
Select item 307465	NM_000545.8(HNF1A):c.*214G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 307464	NM_000545.8(HNF1A):c.*197G>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GBenign
Select item 307463	NM_000545.8(HNF1A):c.*170C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 134507	NM_000545.8(HNF1A):c.1896A>G (p.Ter632=)	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 36813	NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met)	C12orf43, HNF1A (I618M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 14935	NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile)	C12orf43, HNF1A (T620I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significanceFDA Recognized database

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Items: 71