CN074294[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 342396	NM_000551.3(VHL):c.-207C>T	VHL	Single nucleotide variant	Von Hippel-Lindau syndrome +3 more	GUncertain significance
Select item 560736	NM_000551.3(VHL):c.-73C>T	VHL	Single nucleotide variant	not specified +4 more	GConflicting classifications of pathogenicity
Select item 182987	NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)	VHL (A5fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 510481	NM_000551.4(VHL):c.-10C>T	VHL	Single nucleotide variant (5 prime UTR variant)	Pheochromocytoma +4 more	GLikely benign
Select item 238106	NM_000551.4(VHL):c.3G>T (p.Met1Ile)	VHL (M1I)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +6 more	GConflicting classifications of pathogenicity
Select item 135406	NM_000551.4(VHL):c.3G>A (p.Met1Ile)	VHL (M1I)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +6 more	GConflicting classifications of pathogenicity
Select item 374982	NM_000551.4(VHL):c.28G>A (p.Glu10Lys)	VHL (E10K)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +5 more	GConflicting classifications of pathogenicity
Select item 456583	NM_000551.4(VHL):c.31G>C (p.Ala11Pro)	VHL (A11P)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 419711	NM_000551.4(VHL):c.36G>C (p.Glu12Asp)	VHL (E12D)	Single nucleotide variant (missense variant)	Chuvash polycythemia +5 more	GUncertain significance
Select item 411969	NM_000551.4(VHL):c.40G>C (p.Gly14Arg)	VHL (G14R)	Single nucleotide variant (missense variant)	Chuvash polycythemia +4 more	GUncertain significance
Select item 576935	NM_000551.4(VHL):c.70G>T (p.Gly24Cys)	VHL (G24C)	Single nucleotide variant (missense variant)	Chuvash polycythemia +4 more	GUncertain significance
Select item 1047144	NM_000551.4(VHL):c.88G>C (p.Gly30Arg)	VHL (G30R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 186635	NM_000551.4(VHL):c.95A>G (p.Glu32Gly)	VHL (E32G)	Single nucleotide variant (missense variant)	Pheochromocytoma +5 more	GUncertain significance
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 423120	NM_000551.4(VHL):c.125A>C (p.Glu42Ala)	VHL (E42A)	Single nucleotide variant (missense variant)	Chuvash polycythemia +5 more	GUncertain significance
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 182982	NM_000551.4(VHL):c.154G>T (p.Glu52Ter)	VHL (E52*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome +7 more	GUncertain significance
Select item 371800	NM_000551.4(VHL):c.167C>G (p.Ala56Gly)	VHL (A56G)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +5 more	GUncertain significance
Select item 188263	NM_000551.4(VHL):c.167C>T (p.Ala56Val)	VHL (A56V)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +4 more	GUncertain significance
Select item 238102	NM_000551.4(VHL):c.172C>T (p.Arg58Trp)	VHL (R58W)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +5 more	GConflicting classifications of pathogenicity
Select item 238103	NM_000551.4(VHL):c.181C>G (p.Pro61Ala)	VHL (P61A)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +4 more	GUncertain significance
Select item 573437	NM_000551.4(VHL):c.205C>G (p.Arg69Gly)	VHL (R69G)	Single nucleotide variant (missense variant)	Chuvash polycythemia +5 more	GUncertain significance
Select item 422125	NM_000551.4(VHL):c.221T>C (p.Val74Ala)	VHL (V74A)	Single nucleotide variant (missense variant)	Chuvash polycythemia +4 more	GUncertain significance
Select item 411988	NM_000551.4(VHL):c.235C>G (p.Arg79Gly)	VHL (R79G)	Single nucleotide variant (missense variant)	Chuvash polycythemia +5 more	GUncertain significance
Select item 648333	NM_000551.4(VHL):c.251T>C (p.Val84Ala)	VHL (V84A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 699849	NM_000551.4(VHL):c.267C>A (p.Leu89=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome +4 more	GLikely benign
Select item 184664	NM_000551.4(VHL):c.275A>T (p.Asp92Val)	VHL (D92V)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +6 more	GUncertain significance
Select item 526674	NM_000551.4(VHL):c.298A>G (p.Thr100Ala)	VHL (T100A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 43599	NM_000551.4(VHL):c.319C>G (p.Arg107Gly)	VHL (R107G)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +4 more	GPathogenic/Likely pathogenic
Select item 411972	NM_000551.4(VHL):c.323G>A (p.Arg108His)	VHL (R108H)	Single nucleotide variant (missense variant)	Chuvash polycythemia +5 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)	Von Hippel-Lindau syndrome +4 more	GConflicting classifications of pathogenicity
Select item 411970	NM_000551.4(VHL):c.373C>T (p.His125Tyr)	LOC107303340, VHL (H125Y)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +5 more	GConflicting classifications of pathogenicity
Select item 411982	NM_000551.4(VHL):c.398C>T (p.Thr133Ile)	LOC107303340, VHL (T133I)	Single nucleotide variant (missense variant +1 more)	Nonpapillary renal cell carcinoma +4 more	GUncertain significance
Select item 238107	NM_000551.4(VHL):c.408T>G (p.Phe136Leu)	LOC107303340, VHL (F136L)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 381572	NM_000551.4(VHL):c.420C>A (p.Leu140=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +5 more	GLikely benign
Select item 423677	NM_000551.4(VHL):c.422A>G (p.Asn141Ser)	LOC107303340, VHL (N141S)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 672121	NM_000551.4(VHL):c.426T>C (p.Val142=)	LOC107303340, VHL	Single nucleotide variant (synonymous variant +1 more)	Von Hippel-Lindau syndrome +5 more	GLikely benign
Select item 576437	NM_000551.4(VHL):c.430G>A (p.Gly144Arg)	LOC107303340, VHL (G144R)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +4 more	GUncertain significance
Select item 371833	NM_000551.4(VHL):c.439A>G (p.Ile147Val)	LOC107303340, VHL (I147V)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +6 more	GUncertain significance
Select item 387184	NM_000551.4(VHL):c.463+9G>A	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +5 more	GLikely benign
Select item 223222	NM_000551.4(VHL):c.464-2A>G	LOC107303340, VHL	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 2218	NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	LOC107303340, VHL (R167W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 486713	NM_000551.4(VHL):c.508G>A (p.Val170Ile)	LOC107303340, VHL (V170I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Von Hippel-Lindau syndrome +3 more	GUncertain significance
Select item 223232	NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)	LOC107303340, VHL (Y185C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 2234	NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	LOC107303340, VHL (P192S +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +5 more	GConflicting classifications of pathogenicity
Select item 421823	NM_000551.4(VHL):c.614G>A (p.Arg205His)	LOC107303340, VHL (R205H +1 more)	Single nucleotide variant (missense variant +1 more)	Nonpapillary renal cell carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 440404	NM_000551.4(VHL):c.634G>T (p.Gly212Ter)	LOC107303340, VHL (G212* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database
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 1342947	NC_000012.12:g.120978511A>G	HNF1A	Single nucleotide variant (genic upstream transcript variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 288582	NM_000545.8(HNF1A):c.-167TGGGGGT[3]	HNF1A	Microsatellite (5 prime UTR variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 435422	NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)	HNF1A (T10M)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 14948	NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)	HNF1A (G31D)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 995306	NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)	HNF1A (G42D)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +7 more	GUncertain significance
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 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 36804	NM_000545.8(HNF1A):c.150C>T (p.Cys50=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +7 more	GBenign/Likely benign
Select item 1694681	NM_000545.8(HNF1A):c.153C>T (p.Gly51=)	HNF1A	Single nucleotide variant (synonymous variant)	Hepatic adenomas, familial +6 more	GLikely benign
Select item 1338461	NM_000545.8(HNF1A):c.236A>T (p.Glu79Val)	HNF1A (E79V)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +6 more	GUncertain significance
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 256599	NM_000545.8(HNF1A):c.326+6_326+10dup	HNF1A	Duplication (intron variant)	Type 2 diabetes mellitus +8 more	GBenign/Likely benign
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 1591844	NM_000545.8(HNF1A):c.498C>T (p.Tyr166=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 884166	NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)	HNF1A (V167I)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +6 more	GUncertain significance/Uncertain risk allele
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 698851	NM_000545.8(HNF1A):c.685C>A (p.Arg229=)	HNF1A	Single nucleotide variant (synonymous variant)	Nonpapillary renal cell carcinoma +7 more	GLikely benign
Select item 420064	NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)	HNF1A (R229*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
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 36827	NM_000545.8(HNF1A):c.713+14C>T	HNF1A	Single nucleotide variant (intron variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1025247	NM_000545.8(HNF1A):c.780G>A (p.Thr260=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 447503	NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)	HNF1A (R272C)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 586795	NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)	HNF1A (E275del)	Microsatellite (inframe_deletion)	Diabetes mellitus type 1 +7 more	GConflicting classifications of pathogenicity
Select item 1338671	NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)	HNF1A (P289T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +7 more	GUncertain significance
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 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 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 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 1364938	NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)	HNF1A (P295L)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +6 more	GUncertain significance
Select item 402948	NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)	HNF1A (P308L)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +8 more	GUncertain significance/Uncertain risk allele
Select item 972763	NM_000545.8(HNF1A):c.962G>A (p.Arg321His)	HNF1A (R321H)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 307461	NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)	HNF1A (G339S)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +8 more	GLikely 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 695395	NM_000545.8(HNF1A):c.1108-4G>A	HNF1A	Single nucleotide variant (intron variant)	Diabetes mellitus type 1 +7 more	GConflicting classifications of pathogenicity
Select item 431970	NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)	HNF1A (P379A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
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 1338392	NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)	HNF1A (H387Y)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +6 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 805629	NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)	HNF1A (T441K)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +7 more	GUncertain significance
Select item 36800	NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 14928	NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)	HNF1A (P447L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 256594	NM_000545.8(HNF1A):c.1377G>A (p.Leu459=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 447482	NM_000545.8(HNF1A):c.1386C>T (p.Val462=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
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 695861	NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)	HNF1A	Single nucleotide variant (synonymous variant)	Diabetes mellitus type 1 +8 more	GBenign/Likely benign
Select item 430837	NM_000545.8(HNF1A):c.1501+1G>A	HNF1A	Single nucleotide variant (splice donor variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 435420	NM_000545.8(HNF1A):c.1501+6C>T	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +8 more	GConflicting classifications of pathogenicity
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 1391729	NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)	HNF1A (P519S)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
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 667246	NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)	HNF1A (T525S)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +8 more	GUncertain significance

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