bunchosia silvestri - ClinVar - NCBI

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Items: 18

The following term was not found in ClinVar: bunchosia.
Showing results for Bunchosia silvestris. Your search for Bunchosia silvestris retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2404	NM_032409.3(PINK1):c.926G>A (p.Gly309Asp)	PINK1, PINK1-AS (G309D)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 2406	NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter)	PINK1, PINK1-AS (W437*)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 2365	NM_213653.4(HJV):c.959G>T (p.Gly320Val)	HJV (G320V +2 more)	Single nucleotide variant (missense variant)	Juvenile hemochromatosis +2 more	GPathogenic
Select item 407649	NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly)	ATM, C11orf65 (W2109G)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 266780	NM_000059.4(BRCA2):c.3881T>G (p.Leu1294Ter)	BRCA2 (L1294*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126747	NM_024675.4(PALB2):c.3539T>C (p.Ile1180Thr)	PALB2 (I1180T)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 126699	NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)	PALB2 (G998E)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +7 more	GBenign/Likely benign
Select item 234115	NM_024675.4(PALB2):c.1960A>G (p.Ile654Val)	PALB2 (I654V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 54123	NM_007294.4(BRCA1):c.1086_1087del (p.Asn363fs)	BRCA1 (N316fs +20 more)	Microsatellite (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 128195	NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)	BRIP1 (R264W)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +6 more	GConflicting classifications of pathogenicity
Select item 30802	NM_001374504.1(TMPRSS6):c.1537G>A (p.Glu513Lys)	TMPRSS6 (E513K)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 1404	NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn)	TMPRSS6 (D512N)	Single nucleotide variant (missense variant)	Microcytic anemia +1 more	GLikely pathogenic
Select item 1403	NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg)	TMPRSS6 (G433R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Mitochondrial disease +12 more	GPathogenic/Likely pathogenic
Select item 9592	NC_012920.1(MT-TL1):m.3303C>T	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9556	NC_012920.1(MT-TW):m.5521G>A	MT-TW	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9579	NC_012920.1(MT-TK):m.8344A>G	MT-TK	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9580	m.8356T>C	MT-TK	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database