ipomoea rocha - ClinVar

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Items: 35

The following term was not found in ClinVar: ipomoea.
Showing results for Ipomoea rochai. Your search for Ipomoea rochai retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2280	NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	MFN2 (R707W)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 95245	NM_005105.5(RBM8A):c.*6C>G	RBM8A	Single nucleotide variant (3 prime UTR variant)	RBM8A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1807780	GRCh37/hg19 1p36.33-36.32(chr1:1335011-2302755)x1	ANKRD65, ATAD3A +24 more	Copy number loss	not provided	GPathogenic
Select item 203464	NM_015425.6(POLR1A):c.3649del (p.Gln1217fs)	POLR1A (Q1217fs)	Deletion (frameshift variant)	Acrofacial dysostosis Cincinnati type	GPathogenic
Select item 1120191	NM_001164508.2(NEB):c.19102-1G>T	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6	GPathogenic
Select item 223166	NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)	VHL (F76del)	Microsatellite (inframe_deletion)	not provided +4 more	GPathogenic/Likely pathogenic
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 428805	NM_000551.4(VHL):c.263_265dup (p.Trp88_Leu89insArg)	VHL	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 223171	NM_000551.4(VHL):c.264G>T (p.Trp88Cys)	VHL (W88C)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GLikely pathogenic FDA Recognized database
Select item 1799028	NM_000551.4(VHL):c.302T>G (p.Leu101Arg)	VHL (L101R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 1799025	NM_000551.4(VHL):c.302T>A (p.Leu101Gln)	VHL (L101Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 223184	NM_000551.4(VHL):c.320G>A (p.Arg107His)	VHL (R107H)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 36900	NM_000551.4(VHL):c.320G>C (p.Arg107Pro)	VHL (R107P)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GPathogenic/Likely pathogenic
Select item 36902	NM_000551.4(VHL):c.371C>T (p.Thr124Ile)	LOC107303340, VHL (T124I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 496061	NM_000551.4(VHL):c.388G>T (p.Val130Phe)	LOC107303340, VHL (V130F)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1457709	NM_000551.4(VHL):c.463+1G>T	LOC107303340, VHL	Single nucleotide variant (intron variant +1 more)	Von Hippel-Lindau syndrome +2 more	GPathogenic
Select item 526679	NM_000551.4(VHL):c.463+1G>A	LOC107303340, VHL	Single nucleotide variant (intron variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 2671850	NM_000324.3(RHAG):c.544G>A (p.Gly182Ser)	RHAG	Single nucleotide variant (missense variant)	Rh-null, regulator type	GPathogenic
Select item 2393	NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)	ARG1 (I11T)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 42666	NM_000256.3(MYBPC3):c.2905+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	Cardiomyopathy +5 more	GPathogenic
Select item 1212910	NM_005430.4(WNT1):c.506G>A (p.Gly169Asp)	WNT1 (G169D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 164264	NM_000257.4(MYH7):c.5690G>A (p.Arg1897His)	MYH7 (R1897H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 184014	NM_000546.6(TP53):c.509C>T (p.Thr170Met)	TP53 (T131M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 35902	NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)	COL1A1 (R528H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 226363	NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)	LDLR (A540T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 2580376	NM_001037.5(SCN1B):c.590C>A (p.Ala197Asp)	SCN1B (A164D +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 159851	NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)	RYR1 (I1571V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 478280	NM_000540.3(RYR1):c.7844G>A (p.Arg2615His)	RYR1 (R2615H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 132990	NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	RYR1 (R3366H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 133021	NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	RYR1 (Y3928C)	Single nucleotide variant (missense variant)	See cases +8 more	GConflicting classifications of pathogenicity
Select item 65925	NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)	RYR1 (A4846V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 213538	NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)	JAG1 (R744*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation +2 more	GPathogenic
Select item 9728	NC_012920.1(MT-ND1):m.3308T>C	MT-ND1	Single nucleotide variant	not specified +1 more	GBenign/Likely benign
Select item 3062020	Single allele	MT-TL2, MT-TS2 +6 more	Deletion	not provided	GPathogenic
Select item 2504089	MFN2, 3-BP DEL, ARG343DEL	MFN2	Deletion	LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH AXONAL PERIPHERAL NEUROPATHY	GPathogenic

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Items: 35