"GeneDx"[submitter] AND "IVD"[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1700385	NC_000015.10:g.40405451T>C	IVD	Single nucleotide variant	not provided	GLikely benign
Select item 1201127	NC_000015.10:g.40405541T>G	IVD	Single nucleotide variant	not provided	GLikely benign
Select item 315796	NM_002225.5(IVD):c.-48G>A	IVD	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 507985	NM_002225.3(IVD):c.-27C>T	IVD	Single nucleotide variant	not specified	GLikely benign
Select item 372664	NM_002225.5(IVD):c.1A>C (p.Met1Leu)	IVD (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 284237	NM_002225.5(IVD):c.11C>T (p.Ala4Val)	IVD (A4V)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GLikely benign
Select item 258592	NM_002225.5(IVD):c.88C>T (p.His30Tyr)	IVD (H30Y)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 517883	NM_002225.5(IVD):c.123G>C (p.Gly41=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1204368	NM_002225.5(IVD):c.144+26CCCCAAGGCCTCCTTCCTGCCTGGT[3]	IVD	Microsatellite (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1243249	NM_002225.5(IVD):c.144+56_144+80del	IVD	Microsatellite (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1225746	NM_002225.5(IVD):c.144+56A>G	IVD	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1195061	NM_002225.5(IVD):c.145-110G>A	IVD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 370843	NM_002225.5(IVD):c.149G>A (p.Arg50His)	IVD (R50H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 510860	NM_002225.5(IVD):c.150T>A (p.Arg50=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 315797	NM_002225.5(IVD):c.164A>T (p.Lys55Met)	IVD (K55M +1 more)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 488861	NM_002225.5(IVD):c.228C>T (p.Asn76=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 382411	NM_002225.5(IVD):c.229C>T (p.Leu77=)	IVD	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 370807	NM_002225.5(IVD):c.232C>T (p.Arg78Ter)	IVD (R78* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 94053	NM_002225.5(IVD):c.234+14T>C	IVD (V83A)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 386915	NM_002225.5(IVD):c.234+16C>T	IVD (R84W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 390426	NM_002225.5(IVD):c.234+17G>A	IVD (R84Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 1231820	NM_002225.5(IVD):c.234+83_234+84dup	IVD (L107fs)	Duplication (frameshift variant +1 more)	not provided	GBenign
Select item 1258387	NM_002225.5(IVD):c.234+98C>T	IVD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195442	NM_002225.5(IVD):c.235-68T>C	IVD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516787	NM_002225.5(IVD):c.235-19T>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 382073	NM_002225.5(IVD):c.235-18G>A	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 1433747	NM_002225.5(IVD):c.263G>A (p.Gly88Asp)	IVD (G58D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 385437	NM_002225.5(IVD):c.264C>T (p.Gly88=)	IVD	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1176629	NM_002225.5(IVD):c.286+5G>T	IVD	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 508417	NM_002225.5(IVD):c.286+16_286+17del	IVD	Deletion (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1226645	NM_002225.5(IVD):c.286+294T>G	IVD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236863	NM_002225.5(IVD):c.287-318T>C	IVD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706905	NM_002225.5(IVD):c.287-205C>T	IVD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 551222	NM_002225.5(IVD):c.349C>T (p.Arg117Ter)	IVD (R87* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 167199	NM_002225.5(IVD):c.358G>A (p.Gly120Arg)	IVD (G104R +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 516119	NM_002225.5(IVD):c.400A>G (p.Ile134Val)	IVD (I118V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 94055	NM_002225.5(IVD):c.456+2T>C	IVD	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1207374	NM_002225.5(IVD):c.456+127A>C	IVD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279848	NM_002225.5(IVD):c.456+215A>G	IVD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194938	NM_002225.5(IVD):c.457-216T>A	IVD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177538	NM_002225.5(IVD):c.457-120C>T	IVD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 203791	NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)	IVD	Microsatellite (inframe_insertion +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 432172	NM_002225.5(IVD):c.466G>A (p.Gly156Ser)	IVD (G156S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1707005	NM_002225.5(IVD):c.492G>A (p.Met164Ile)	IVD (M134I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 94056	NM_002225.5(IVD):c.498del (p.Glu166fs)	IVD (E136fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 1254764	NM_002225.5(IVD):c.539C>T (p.Ala180Val)	IVD (A150V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 372389	NM_002225.5(IVD):c.550+1G>A	IVD	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 197740	NM_002225.5(IVD):c.550+57A>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 380581	NM_002225.5(IVD):c.551-18C>T	IVD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 392951	NM_002225.5(IVD):c.581T>A (p.Phe194Tyr)	IVD (F164Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3563	NM_002225.5(IVD):c.596G>T (p.Gly199Val)	IVD (G183V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 459930	NM_002225.5(IVD):c.618del (p.Ile206fs)	IVD (I176fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1707273	NM_002225.5(IVD):c.667A>G (p.Thr223Ala)	IVD (T193A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1186830	NM_002225.5(IVD):c.687+123G>T	IVD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177540	NM_002225.5(IVD):c.688-85A>G	IVD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 258591	NM_002225.5(IVD):c.688-31T>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 512292	NM_002225.5(IVD):c.690T>C (p.Gly230=)	IVD	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 280881	NM_002225.5(IVD):c.707C>T (p.Thr236Ile)	IVD (T236I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 94057	NM_002225.5(IVD):c.723C>T (p.Asp241=)	IVD	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 386927	NM_002225.5(IVD):c.784+12C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 315799	NM_002225.5(IVD):c.784+13G>A	IVD	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1233809	NM_002225.5(IVD):c.784+131G>A	IVD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 373346	NM_002225.5(IVD):c.823G>A (p.Val275Met)	IVD (V245M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 555453	NM_002225.5(IVD):c.851G>A (p.Arg284Gln)	IVD (R313Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1291167	NM_002225.5(IVD):c.879-144C>T	IVD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 315800	NM_002225.5(IVD):c.879-5G>A	IVD	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 94058	NM_002225.5(IVD):c.891G>A (p.Ala297=)	IVD	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 100060	NM_002225.5(IVD):c.932C>T (p.Ala311Val)	IVD (A281V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 515349	NM_002225.5(IVD):c.948C>T (p.Ile316=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 627426	NM_002225.5(IVD):c.960G>T (p.Gln320His)	IVD (Q320H +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 507082	NM_002225.5(IVD):c.961T>C (p.Leu321=)	IVD	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1479097	NM_002225.5(IVD):c.977T>C (p.Met326Thr)	IVD (M355T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 258590	NM_002225.5(IVD):c.1065+41A>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 1201736	NM_002225.5(IVD):c.1066-34G>A	IVD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390425	NM_002225.5(IVD):c.1066-10C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 315803	NM_002225.5(IVD):c.1066-5C>T	IVD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 94050	NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)	IVD (D356N +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 794272	NM_002225.5(IVD):c.1095T>C (p.Ala365=)	IVD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 515984	NM_002225.5(IVD):c.1122C>T (p.Asp374=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 1083201	NM_002225.5(IVD):c.1138+9T>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 1202984	NM_002225.5(IVD):c.1138+78G>A	IVD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269973	NM_002225.5(IVD):c.1138+83C>T	IVD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243182	NM_002225.5(IVD):c.1138+140C>T	IVD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242433	NM_002225.5(IVD):c.1139-228G>T	IVD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223925	NM_002225.5(IVD):c.1139-221A>T	IVD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268101	NM_002225.5(IVD):c.1139-178C>A	IVD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388410	NM_002225.5(IVD):c.1139-8G>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 265202	NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)	IVD (R392C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 450659	NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)	IVD (R440Q +3 more)	Single nucleotide variant (missense variant +1 more)	IVD-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 203782	NM_002225.5(IVD):c.*14C>T	IVD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 1186849	NM_002225.5(IVD):c.*15G>A	IVD	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 315805	NM_002225.5(IVD):c.*195C>T	IVD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 315807	NM_002225.5(IVD):c.*261G>A	IVD	Single nucleotide variant (3 prime UTR variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GBenign

ClinVar

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Items: 93