ClinVar for OMIM (Select 144700) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1695471	NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)	HNF1A (T537M)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +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	GPathogenic FDA Recognized database
Select item 1687085	NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)	C12orf43, HNF1A (S593T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1687075	NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)	HNF1A (P291L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1687067	NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)	C12orf43, HNF1A (H609Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1676938	NM_144997.7(FLCN):c.251G>T (p.Gly84Val)	FLCN (G84V)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GUncertain significance
Select item 1676684	NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu)	HNF1A (G47E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1604102	NM_144997.7(FLCN):c.871+13T>C	FLCN (V295A)	Single nucleotide variant (missense variant +1 more)	Birt-Hogg-Dube syndrome +4 more	GLikely benign
Select item 1596818	NM_144997.7(FLCN):c.1539-11G>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GLikely benign
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)	not provided +6 more	GLikely benign
Select item 1577112	NM_144997.7(FLCN):c.780-13C>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GLikely benign
Select item 1576694	NM_144997.7(FLCN):c.1176+15T>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GBenign/Likely benign
Select item 1541857	NM_000545.8(HNF1A):c.1071G>A (p.Glu357=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 1536561	NM_000458.4(HNF1B):c.544+14T>A	HNF1B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1532785	NM_000458.4(HNF1B):c.1534+10C>T	HNF1B	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1519156	NM_144997.7(FLCN):c.202A>C (p.Ser68Arg)	FLCN (S68R)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GUncertain significance
Select item 1518457	NM_000551.4(VHL):c.530G>C (p.Arg177Thr)	LOC107303340, VHL (R136T +1 more)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 1516497	NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile)	HNF1B (M435I +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +3 more	GUncertain significance
Select item 1503069	NM_144997.7(FLCN):c.644G>A (p.Cys215Tyr)	FLCN (C215Y +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GUncertain significance
Select item 1496182	NM_144997.7(FLCN):c.49C>T (p.Arg17Cys)	FLCN (R17C)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GUncertain significance
Select item 1471754	NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)	HNF1A (P379H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 1457328	NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)	LOC126862549, HNF1B (Q212* +1 more)	Single nucleotide variant (nonsense)	Renal cysts and diabetes syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1437880	NM_000551.4(VHL):c.116G>T (p.Gly39Val)	VHL (G39V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1391729	NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)	HNF1A (P519S)	Single nucleotide variant (missense variant)	Hepatic adenomas, familial +7 more	GUncertain significance
Select item 1390735	NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)	HNF1A (Q175R)	Single nucleotide variant (missense variant)	Hepatic adenomas, familial +6 more	GUncertain significance
Select item 1376154	NM_000551.4(VHL):c.637G>C (p.Asp213His)	LOC107303340, VHL (D213H +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GUncertain significance
Select item 1365752	NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs)	HNF1B (S351fs +1 more)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1364938	NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)	HNF1A (P295L)	Single nucleotide variant (missense variant)	Hepatic adenomas, familial +6 more	GUncertain significance
Select item 1343483	NM_000458.4(HNF1B):c.1534+11G>A	HNF1B	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1342947	NM_000545.8(HNF1A):c.-258A>G	HNF1A	Single nucleotide variant (genic upstream transcript variant)	Monogenic diabetes	GUncertain significance FDA 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)	Nonpapillary renal cell carcinoma +6 more	GUncertain significance
Select item 1338392	NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)	HNF1A (H387Y)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +6 more	GUncertain significance
Select item 1337503	NM_000458.4(HNF1B):c.831G>A (p.Gly277=)	HNF1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1334146	NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala)	HNF1A (P291A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1334141	NM_000545.8(HNF1A):c.257T>A (p.Leu86His)	HNF1A (L86H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1327613	NM_000545.8(HNF1A):c.1513C>A (p.His505Asn)	HNF1A (H505N)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1318621	NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)	HNF1A (A586T +1 more)	Single nucleotide variant (missense variant)	not provided +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 significance FDA Recognized database
Select item 1255602	NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp)	HNF1B, LOC126862549 (R226W +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 1179147	NM_000545.8(HNF1A):c.1310-2A>G	HNF1A	Single nucleotide variant (splice acceptor variant +1 more)	Nonpapillary renal cell carcinoma +5 more	GLikely pathogenic
Select item 1172901	NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)	HNF1B (G438S +1 more)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome +4 more	GUncertain significance
Select item 1148460	NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)	HNF1A (S574G +1 more)	Inversion (missense variant)	not provided +6 more	GLikely benign
Select item 1138930	NM_144997.7(FLCN):c.645C>T (p.Cys215=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +6 more	GLikely benign
Select item 1127166	NM_144997.7(FLCN):c.1301-8T>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GLikely benign
Select item 1087387	NM_144997.7(FLCN):c.619-8C>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GLikely benign
Select item 1083440	NM_144997.7(FLCN):c.1068G>T (p.Leu356=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +6 more	GLikely benign
Select item 1047144	NM_000551.4(VHL):c.88G>C (p.Gly30Arg)	VHL (G30R)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GConflicting classifications of pathogenicity
Select item 1044847	NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg)	FLCN (K534R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1043559	NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu)	FLCN (R588L +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +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 of the young type 3 +7 more	GConflicting classifications of pathogenicity
Select item 1011594	NM_144997.7(FLCN):c.1487C>T (p.Ser496Phe)	FLCN (S496F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 997653	NM_000545.8(HNF1A):c.1478T>C (p.Met493Thr)	HNF1A (M493T)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +2 more	GUncertain significance/Uncertain risk allele
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 994816	NM_000458.4(HNF1B):c.1207-18T>C	HNF1B	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +5 more	GBenign/Likely benign
Select item 994544	NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)	HNF1A (S569N +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +7 more	GUncertain significance
Select item 994542	NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)	HNF1A (D546A +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +7 more	GUncertain significance/Uncertain risk allele
Select item 972814	NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)	HNF1A (P291T)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 972767	NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)	HNF1A (P467L)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +5 more	GUncertain significance
Select item 972763	NM_000545.8(HNF1A):c.962G>A (p.Arg321His)	HNF1A (R321H)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +6 more	GConflicting classifications of pathogenicity
Select item 972757	NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr)	HNF1A (A161T)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 972750	NM_000458.4(HNF1B):c.660T>C (p.Asp220=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 959877	NM_000551.4(VHL):c.130G>C (p.Gly44Arg)	VHL (G44R)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GUncertain significance
Select item 934313	NM_144997.7(FLCN):c.1040A>G (p.Lys347Arg)	FLCN (K365R +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +4 more	GUncertain significance
Select item 888616	NM_144997.7(FLCN):c.798C>T (p.Gly266=)	FLCN	Single nucleotide variant (synonymous variant)	Familial spontaneous pneumothorax +4 more	GUncertain significance
Select item 884166	NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)	HNF1A (V167I)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GUncertain significance/Uncertain risk allele
Select item 882514	NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)	HNF1A (Q583P +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GUncertain significance/Uncertain risk allele
Select item 882461	NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)	HNF1A (G47R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 857867	NM_144997.7(FLCN):c.1300+4C>T	FLCN	Single nucleotide variant (intron variant)	Colorectal cancer +4 more	GConflicting classifications of pathogenicity
Select item 856221	NM_144997.7(FLCN):c.221C>T (p.Pro74Leu)	FLCN (P74L)	Single nucleotide variant (missense variant)	Colorectal cancer +5 more	GUncertain significance
Select item 853977	NM_144997.7(FLCN):c.1351C>T (p.Pro451Ser)	FLCN (P451S +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer +5 more	GUncertain significance
Select item 852166	NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)	FLCN (F188I +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer +6 more	GConflicting classifications of pathogenicity
Select item 849869	NM_000551.4(VHL):c.340+578C>T	LOC107303340, VHL (L115F)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +4 more	GConflicting classifications of pathogenicity
Select item 845359	NM_144997.7(FLCN):c.179C>T (p.Ala60Val)	FLCN (A60V)	Single nucleotide variant (missense variant)	Colorectal cancer +7 more	GConflicting classifications of pathogenicity
Select item 841895	NM_144997.7(FLCN):c.79G>T (p.Ala27Ser)	FLCN (A27S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 835557	NM_144997.7(FLCN):c.986C>T (p.Ser329Phe)	FLCN (S329F +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GUncertain significance
Select item 835515	NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln)	HNF1A (P291Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 826983	NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)	FLCN (T263K +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GConflicting classifications of pathogenicity
Select item 826098	NM_144997.7(FLCN):c.598C>T (p.Leu200Phe)	FLCN (L218F +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GUncertain significance
Select item 819964	NM_144997.7(FLCN):c.1733G>A (p.Arg578Gln)	FLCN (R578Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 818884	NM_144997.7(FLCN):c.1315G>A (p.Val439Met)	FLCN (V457M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 805639	NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)	HNF1B, LOC126862549 (M193T)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 805638	NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)	HNF1B (E105G)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +4 more	GUncertain significance
Select item 805629	NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)	HNF1A (T441K)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +7 more	GUncertain significance
Select item 707712	NM_144997.7(FLCN):c.1353T>C (p.Pro451=)	FLCN	Single nucleotide variant (synonymous variant)	Potocki-Lupski syndrome +5 more	GLikely benign
Select item 705986	NM_144997.7(FLCN):c.756G>A (p.Ala252=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GLikely benign
Select item 703204	NM_144997.7(FLCN):c.981A>G (p.Ala327=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 701279	NM_144997.7(FLCN):c.1380C>T (p.Leu460=)	FLCN	Single nucleotide variant (synonymous variant)	FLCN-related condition +6 more	GLikely benign
Select item 699849	NM_000551.4(VHL):c.267C>A (p.Leu89=)	VHL	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 698851	NM_000545.8(HNF1A):c.685C>A (p.Arg229=)	HNF1A	Single nucleotide variant (synonymous variant)	Type 1 diabetes mellitus 20 +8 more	GConflicting classifications of pathogenicity
Select item 696606	NM_144997.7(FLCN):c.396+7C>T	FLCN	Single nucleotide variant (intron variant)	Nonpapillary renal cell carcinoma +6 more	GLikely benign
Select item 695861	NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 695395	NM_000545.8(HNF1A):c.1108-4G>A	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +7 more	GConflicting classifications of pathogenicity
Select item 672121	NM_000551.4(VHL):c.426T>C (p.Val142=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +5 more	GLikely benign
Select item 667246	NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)	HNF1A (T525S)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +8 more	GUncertain significance
Select item 662886	NM_144997.7(FLCN):c.230A>C (p.Lys77Thr)	FLCN (K77T)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +4 more	GUncertain significance
Select item 661706	NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)	FLCN (R286W +1 more)	Single nucleotide variant (missense variant)	Potocki-Lupski syndrome +8 more	GConflicting classifications of pathogenicity
Select item 653717	NM_144997.7(FLCN):c.1715C>A (p.Pro572His)	FLCN (P572H +1 more)	Single nucleotide variant (missense variant)	Potocki-Lupski syndrome +4 more	GUncertain significance

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