ClinVar for MedGen (Select 41522) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3574321	NM_000545.8(HNF1A):c.1877T>A (p.Met626Lys)	C12orf43, HNF1A (M562K +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574320	NM_000545.8(HNF1A):c.1864A>C (p.Ile622Leu)	C12orf43, HNF1A (I558L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574319	NM_000545.8(HNF1A):c.1838C>T (p.Ser613Phe)	C12orf43, HNF1A (S549F +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574317	NM_000545.8(HNF1A):c.1812C>G (p.Ser604Arg)	C12orf43, HNF1A (S540R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574316	NM_000545.8(HNF1A):c.1810A>G (p.Ser604Gly)	C12orf43, HNF1A (S540G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574315	NM_000545.8(HNF1A):c.1789C>T (p.Leu597=)	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574314	NM_000545.8(HNF1A):c.1768+5G>A	HNF1A	Single nucleotide variant (intron variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574313	NM_000545.8(HNF1A):c.1720delinsGGCATCCAGCACCG (p.Ser574fs)	HNF1A (S510fs +2 more)	Indel (frameshift variant)	Type 1 diabetes mellitus 20 +5 more	GLikely pathogenic
Select item 3574312	NM_000545.8(HNF1A):c.1717G>T (p.Ala573Ser)	HNF1A (A580S +2 more)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574311	NM_000545.8(HNF1A):c.1715del (p.Pro572fs)	HNF1A (P579fs +2 more)	Deletion (frameshift variant)	Type 1 diabetes mellitus 20 +5 more	GLikely pathogenic
Select item 3574310	NM_000545.8(HNF1A):c.1668_1669delinsAT (p.His556_Thr557delinsGlnSer)	HNF1A	Indel (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574309	NM_000545.8(HNF1A):c.1575_1576delinsA (p.Asp526fs)	HNF1A (D526fs +1 more)	Indel (frameshift variant)	Type 1 diabetes mellitus 20 +5 more	GLikely pathogenic
Select item 3574308	NM_000545.8(HNF1A):c.1555_1556dup (p.Gln520fs)	HNF1A (Q520fs +1 more)	Duplication (frameshift variant)	Type 1 diabetes mellitus 20 +5 more	GLikely pathogenic
Select item 3574307	NM_000545.8(HNF1A):c.1526T>C (p.Val509Ala)	HNF1A (V445A +1 more)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574305	NM_000545.8(HNF1A):c.1474A>G (p.Thr492Ala)	HNF1A (T492A)	Single nucleotide variant (missense variant +1 more)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574304	NM_000545.8(HNF1A):c.1469T>C (p.Met490Thr)	HNF1A (M490T)	Single nucleotide variant (missense variant +1 more)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574303	NM_000545.8(HNF1A):c.1456C>T (p.Gln486Ter)	HNF1A (Q486*)	Single nucleotide variant (nonsense +1 more)	Type 1 diabetes mellitus 20 +5 more	GPathogenic
Select item 3574302	NM_000545.8(HNF1A):c.1361G>A (p.Ser454Asn)	HNF1A (S454N)	Single nucleotide variant (missense variant +1 more)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574301	NM_000545.8(HNF1A):c.1206C>A (p.Asn402Lys)	HNF1A (N402K)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574300	NM_000545.8(HNF1A):c.1107+9C>T	HNF1A	Single nucleotide variant (intron variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574299	NM_000545.8(HNF1A):c.1107G>C (p.Leu369=)	HNF1A	Single nucleotide variant (synonymous variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574298	NM_000545.8(HNF1A):c.1036_1056dup (p.Ser352_Pro353insThrProLeuHisGlnValSer)	HNF1A	Duplication	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574297	NM_000545.8(HNF1A):c.973C>A (p.Pro325Thr)	HNF1A (P325T)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574296	NM_000545.8(HNF1A):c.950T>C (p.Val317Ala)	HNF1A (V317A)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574294	NM_000545.8(HNF1A):c.943A>C (p.Ser315Arg)	HNF1A (S315R)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574293	NM_000545.8(HNF1A):c.932C>G (p.Ala311Gly)	HNF1A (A311G)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574292	NM_000545.8(HNF1A):c.929C>T (p.Pro310Leu)	HNF1A (P310L)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574291	NM_000545.8(HNF1A):c.893C>T (p.Ala298Val)	HNF1A (A298V)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574290	NM_000545.8(HNF1A):c.863_864inv (p.Gly288Ala)	HNF1A (G288A)	Inversion (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574289	NM_000545.8(HNF1A):c.845C>A (p.Ala282Asp)	HNF1A (A282D)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574287	NM_000545.8(HNF1A):c.691A>T (p.Thr231Ser)	HNF1A (T231S)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574286	NM_000545.8(HNF1A):c.587C>G (p.Thr196Ser)	HNF1A (T196S)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574285	NM_000545.8(HNF1A):c.548G>C (p.Gly183Ala)	HNF1A (G183A)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574284	NM_000545.8(HNF1A):c.542G>A (p.Gly181Glu)	HNF1A (G181E)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574283	NM_000545.8(HNF1A):c.464A>G (p.Lys155Arg)	HNF1A (K155R)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574282	NM_000545.8(HNF1A):c.272A>G (p.Asn91Ser)	HNF1A (N91S)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574281	NM_000545.8(HNF1A):c.223G>A (p.Asp75Asn)	HNF1A (D75N)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574280	NM_000545.8(HNF1A):c.216C>G (p.Asp72Glu)	HNF1A (D72E)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574279	NM_000545.8(HNF1A):c.154G>A (p.Gly52Ser)	HNF1A (G52S)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3574278	NM_000545.8(HNF1A):c.3G>A (p.Met1Ile)	HNF1A (M1I)	Single nucleotide variant (missense variant +1 more)	Type 1 diabetes mellitus 20 +5 more	GLikely pathogenic
Select item 3574277	NM_000545.8(HNF1A):c.-64_-55delinsGC	HNF1A	Indel (5 prime UTR variant)	Type 1 diabetes mellitus 20 +5 more	GLikely pathogenic
Select item 3574275	NM_000545.8(HNF1A):c.-133_-128dup	HNF1A	Duplication (5 prime UTR variant)	Type 1 diabetes mellitus 20 +5 more	GUncertain significance
Select item 3390430	NM_000545.8(HNF1A):c.961C>T (p.Arg321Cys)	HNF1A (R321C)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GUncertain significance
Select item 3360604	NM_002224.4(ITPR3):c.5903A>T (p.Asp1968Val)	ITPR3 (D1968V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3350786	NM_000545.8(HNF1A):c.-119G>A	HNF1A	Single nucleotide variant (5 prime UTR variant)	Diabetes mellitus type 1 +5 more	GUncertain significance
Select item 3336072	NM_000545.8(HNF1A):c.1720_1721delinsGA (p.Ser574Asp)	HNF1A (G574D +3 more)	Indel (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 2682388	NM_000545.8(HNF1A):c.1309+16T>C	HNF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 2676035	NM_000545.8(HNF1A):c.1609A>G (p.Thr537Ala)	HNF1A (T473A +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1	GUncertain significance
Select item 2584620	NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)	KCNJ11 (P21T)	Single nucleotide variant (missense variant +2 more)	Diabetes mellitus, transient neonatal, 3 +7 more	GUncertain significance
Select item 2445327	NM_000545.8(HNF1A):c.1512C>A (p.Ser504Arg)	HNF1A (S440R +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GConflicting classifications of pathogenicity
Select item 2443141	NM_000545.8(HNF1A):c.1107+6T>C	HNF1A	Single nucleotide variant (intron variant)	Diabetes mellitus type 1 +5 more	GUncertain significance
Select item 2202010	NM_000545.8(HNF1A):c.354G>A (p.Met118Ile)	HNF1A (M118I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 2137829	NM_000545.8(HNF1A):c.-62C>G	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided +6 more	GUncertain significance
Select item 1982702	NM_000545.8(HNF1A):c.862G>A (p.Gly288Arg)	HNF1A (G288R)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 1982213	NM_000545.8(HNF1A):c.1322C>T (p.Thr441Met)	HNF1A (T441M)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1946469	NM_000545.8(HNF1A):c.181C>T (p.Pro61Ser)	HNF1A (P61S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1695471	NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)	HNF1A (T537M)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1694681	NM_000545.8(HNF1A):c.153C>T (p.Gly51=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 1693221	NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)	HNF1A (P519L)	Single nucleotide variant (missense variant)	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 1687075	NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)	HNF1A (P291L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1687068	NM_000545.8(HNF1A):c.1824C>G (p.Ser608Arg)	C12orf43, HNF1A (S608R +2 more)	Single nucleotide variant (3 prime UTR 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 1676684	NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu)	HNF1A (G47E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1675052	NM_000545.8(HNF1A):c.41C>T (p.Ala14Val)	HNF1A (A14V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1591844	NM_000545.8(HNF1A):c.498C>T (p.Tyr166=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 1591463	NM_000545.8(HNF1A):c.713+13G>A	HNF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +6 more	GLikely benign
Select item 1541857	NM_000545.8(HNF1A):c.1071G>A (p.Glu357=)	HNF1A	Single nucleotide variant (synonymous variant)	Hepatic adenomas, familial +6 more	GLikely benign
Select item 1471754	NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)	HNF1A (P379H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenignFDA 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)	Diabetes mellitus type 1 +6 more	GUncertain significance
Select item 1391729	NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)	HNF1A (P519S)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +7 more	GUncertain significance
Select item 1390735	NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)	HNF1A (Q175R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1364938	NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)	HNF1A (P295L)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GUncertain significance
Select item 1342956	NM_000545.8(HNF1A):c.1544C>T (p.Thr515Met)	HNF1A (T515M)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1342947	NC_000012.12:g.120978511A>G	HNF1A	Single nucleotide variant (genic upstream transcript variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1338671	NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)	HNF1A (P289T)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1338461	NM_000545.8(HNF1A):c.236A>T (p.Glu79Val)	HNF1A (E79V)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +6 more	GUncertain significance
Select item 1338392	NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)	HNF1A (H387Y)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GUncertain significance
Select item 1334146	NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala)	HNF1A (P291A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1334141	NM_000545.8(HNF1A):c.257T>A (p.Leu86His)	HNF1A (L86H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1327613	NM_000545.8(HNF1A):c.1513C>A (p.His505Asn)	HNF1A (H505N)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1327091	NM_000545.8(HNF1A):c.1030G>A (p.Val344Met)	HNF1A (V344M)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GUncertain significance
Select item 1318621	NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)	HNF1A (A586T +1 more)	Single nucleotide variant (missense variant)	Hepatic adenomas, familial +6 more	GConflicting classifications of pathogenicity
Select item 1315612	NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)	HNF1A (P289S)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1179147	NM_000545.8(HNF1A):c.1310-2A>G	HNF1A	Single nucleotide variant (splice acceptor variant +1 more)	Hepatic adenomas, familial +5 more	GLikely pathogenic
Select item 1148460	NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)	HNF1A (S574G +1 more)	Inversion (missense variant)	Diabetes mellitus type 1 +6 more	GLikely benign
Select item 1120099	NM_000545.8(HNF1A):c.245C>T (p.Thr82Met)	HNF1A (T82M)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +7 more	GUncertain significance
Select item 1105252	NM_000545.8(HNF1A):c.542G>C (p.Gly181Ala)	HNF1A (G181A)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GConflicting classifications of pathogenicity
Select item 1098821	NM_000545.8(HNF1A):c.238G>T (p.Asp80Tyr)	HNF1A (D80Y)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GUncertain significance
Select item 1048822	NM_000545.8(HNF1A):c.869C>A (p.Pro290His)	HNF1A (P290H)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GUncertain significance
Select item 1026109	NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del)	HNF1A	Deletion (inframe_deletion)	Diabetes mellitus type 1 +5 more	GConflicting classifications of pathogenicity
Select item 1025247	NM_000545.8(HNF1A):c.780G>A (p.Thr260=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +7 more	GConflicting classifications of pathogenicity
Select item 995306	NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)	HNF1A (G42D)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
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 +7 more	GUncertain significance/Uncertain risk allele
Select item 994544	NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)	HNF1A (S569N +1 more)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +7 more	GUncertain significance
Select item 994543	NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile)	HNF1A (V567I +1 more)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +4 more	GUncertain significance
Select item 994542	NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)	HNF1A (D546A +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 992538	NM_014009.4(FOXP3):c.102C>A (p.Asp34Glu)	FOXP3 (D34E)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GUncertain significance
Select item 972814	NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)	HNF1A (P291T)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 972813	NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp)	HNF1A (A311D)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +6 more	GUncertain significance

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