ClinVar (all) for Orgtrack (Select 508271) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500230	NM_016222.4(DDX41):c.962C>T (p.Pro321Leu)	DDX41 (P195L +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500229	NM_016222.4(DDX41):c.435-1G>T	DDX41	Single nucleotide variant (splice acceptor variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500228	NM_016222.4(DDX41):c.423del (p.Ile142fs)	DDX41 (I142fs +1 more)	Deletion (frameshift variant)	DDX41-related disorder	GLikely pathogenic
Select item 2500227	NM_016222.4(DDX41):c.1709A>G (p.Asp570Gly)	DDX41 (D444G +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500226	NM_016222.4(DDX41):c.1106G>A (p.Arg369Gln)	DDX41 (R243Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500225	NM_016222.4(DDX41):c.1126G>A (p.Ala376Thr)	DDX41 (A250T +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500224	NM_016222.4(DDX41):c.1759G>T (p.Gly587Cys)	DDX41 (G461C +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500223	NM_016222.4(DDX41):c.1204G>T (p.Gly402Trp)	DDX41 (G276W +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500222	NM_016222.4(DDX41):c.1589G>A (p.Gly530Asp)	DDX41 (G404D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500221	NM_016222.4(DDX41):c.1036G>C (p.Ala346Pro)	DDX41 (A220P +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500220	NM_016222.4(DDX41):c.1035G>C (p.Glu345Asp)	DDX41 (E219D +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500219	NM_016222.4(DDX41):c.638C>G (p.Pro213Arg)	DDX41 (P213R +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2500218	NM_016222.4(DDX41):c.1088_1090del (p.Ser363del)	DDX41 (S237del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2500217	NM_016222.4(DDX41):c.1231-3C>G	DDX41	Single nucleotide variant (intron variant)	DDX41-related hematologic malignancy predisposition syndrome	GPathogenic
Select item 2500216	NM_016222.4(DDX41):c.1603_1605delinsA (p.Phe535fs)	DDX41 (F409fs +1 more)	Indel (frameshift variant)	DDX41-related hematologic malignancy predisposition syndrome	GPathogenic
Select item 2500215	NM_016222.4(DDX41):c.935+4A>T	DDX41	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1800707	NM_016222.4(DDX41):c.847del (p.Leu283fs)	DDX41 (L157fs +1 more)	Deletion (frameshift variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GPathogenic
Select item 1723891	NM_000551.4(VHL):c.222_225dup (p.Phe76fs)	VHL (F76fs)	Duplication (frameshift variant)	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 1338592	NM_016222.4(DDX41):c.959C>T (p.Thr320Ile)	DDX41 (T194I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338505	NM_016222.4(DDX41):c.986del (p.Gln329fs)	DDX41 (Q203fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1338492	NM_016222.4(DDX41):c.434+1G>C	DDX41	Single nucleotide variant (splice donor variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1337840	NM_016222.4(DDX41):c.1547A>G (p.Tyr516Cys)	DDX41 (Y390C +1 more)	Single nucleotide variant (missense variant)	DDX41-related disorder +3 more	GUncertain significance
Select item 1337455	NM_016222.4(DDX41):c.1033G>A (p.Glu345Lys)	DDX41 (E219K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1297059	NM_000551.4(VHL):c.244C>G (p.Arg82Gly)	VHL (R82G)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 1217660	NM_016222.4(DDX41):c.653G>A (p.Gly218Asp)	DDX41 (G218D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1211430	NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter)	DDX41 (K255* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1200681	NM_016222.4(DDX41):c.946_947del (p.Met316fs)	DDX41 (M190fs +1 more)	Deletion (frameshift variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GPathogenic
Select item 1192236	NM_139276.3(STAT3):c.1852G>C (p.Gly618Arg)	STAT3 (G586R +7 more)	Single nucleotide variant (missense variant)	See cases +3 more	GUncertain significance
Select item 978204	NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)	DDX41 (T403fs +1 more)	Microsatellite (frameshift variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GPathogenic
Select item 625229	NM_000551.4(VHL):c.239G>T (p.Ser80Ile)	VHL (S80I)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 625226	NM_000551.4(VHL):c.232A>G (p.Asn78Asp)	VHL (N78D)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +2 more	GPathogenic/Likely pathogenic
Select item 547829	NM_000551.4(VHL):c.193T>C (p.Ser65Pro)	VHL (S65P)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 456577	NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	VHL (W88R)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GPathogenic
Select item 419447	NM_000551.4(VHL):c.551T>C (p.Leu184Pro)	LOC107303340, VHL (L184P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 224637	NM_016222.4(DDX41):c.3G>A (p.Met1Ile)	DDX41 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GPathogenic/Likely pathogenic
Select item 224634	NM_016222.4(DDX41):c.1574G>A (p.Arg525His)	DDX41 (R525H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 223235	NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	LOC107303340, VHL (L198P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 223229	NM_000551.4(VHL):c.496_506del (p.Val166fs)	LOC107303340, VHL (V166fs +1 more)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 223183	NM_000551.4(VHL):c.311G>T (p.Gly104Val)	VHL (G104V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 223179	NM_000551.4(VHL):c.300dup (p.Leu101fs)	VHL (L101fs)	Duplication (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 223176	NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)	VHL (Y98C)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 210843	NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)	DDX41	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 186220	NM_000551.4(VHL):c.238A>G (p.Ser80Gly)	VHL (S80G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 182990	NM_000551.4(VHL):c.631A>C (p.Met211Leu)	LOC107303340, VHL (M211L +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +4 more	GConflicting classifications of pathogenicity
Select item 182983	NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	LOC107303340, VHL (R161Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 182978	NM_000551.4(VHL):c.263G>A (p.Trp88Ter)	VHL (W88*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 182977	NM_000551.4(VHL):c.257C>T (p.Pro86Leu)	VHL (P86L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 127830	NM_000551.4(VHL):c.463+8C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 93330	NM_000551.4(VHL):c.74C>T (p.Pro25Leu)	VHL (P25L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 93326	NM_000551.4(VHL):c.233A>G (p.Asn78Ser)	VHL (N78S)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 43596	NM_000551.4(VHL):c.150C>G (p.Ala50=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 36899	NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	VHL (P81L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2237	NM_000551.4(VHL):c.277G>A (p.Gly93Ser)	VHL (G93S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2233	NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	VHL (P81S)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 2223	NM_000551.4(VHL):c.292T>C (p.Tyr98His)	VHL (Y98H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 2217	NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	LOC107303340, VHL (R161* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome +3 more	GPathogenic
Select item 2216	NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	LOC107303340, VHL (R167Q +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database

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Items: 57