brassia verrucous - ClinVar

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Items: 40

The following term was not found in ClinVar: brassia.
Showing results for Brassia verrucosa. Your search for Brassia verrucosa retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222949	NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer)	ECM1	Indel (nonsense)	Lipid proteinosis	Gnot provided
Select item 1030795	NM_004425.4(ECM1):c.122-3T>G	ECM1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 930258	NM_004425.4(ECM1):c.142del (p.Ser48fs)	ECM1 (S48fs)	Deletion (frameshift variant)	Lipid proteinosis	GLikely pathogenic
Select item 7475	NM_004425.4(ECM1):c.157C>T (p.Arg53Ter)	ECM1 (R53*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1034085	NM_004425.4(ECM1):c.233del (p.Pro78fs)	ECM1 (P78fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 787215	NM_004425.4(ECM1):c.366C>T (p.His122=)	ECM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1222321	NM_004425.4(ECM1):c.389C>T (p.Thr130Met)	ECM1 (T130M +1 more)	Single nucleotide variant (missense variant)	Lipid proteinosis +1 more	GBenign
Select item 7477	NM_004425.4(ECM1):c.480G>A (p.Trp160Ter)	ECM1 (W160* +1 more)	Single nucleotide variant (nonsense)	Lipid proteinosis	GPathogenic
Select item 7476	NM_004425.4(ECM1):c.499T>A (p.Phe167Ile)	ECM1 (F167I +1 more)	Single nucleotide variant (missense variant)	Lipid proteinosis	GLikely pathogenic
Select item 222945	NM_004425.4(ECM1):c.506dup (p.Gly170fs)	ECM1 (G170fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 916209	NM_004425.4(ECM1):c.505C>G (p.Pro169Ala)	ECM1 (P169A +1 more)	Single nucleotide variant (missense variant)	Lipid proteinosis +2 more	GUncertain significance
Select item 222947	NM_004425.4(ECM1):c.507del (p.Arg171fs)	ECM1 (R171fs +1 more)	Deletion (frameshift variant)	ECM1-related disorder	GPathogenic
Select item 1803965	NM_004425.4(ECM1):c.542_543insAACCAAATCTGAA (p.Cys181Ter)	ECM1 (C181* +1 more)	Insertion (nonsense)	Lipid proteinosis	GPathogenic
Select item 3064523	NM_004425.4(ECM1):c.629_630delinsCT (p.Leu210Pro)	ECM1 (L210P +1 more)	Indel (missense variant)	Lipid proteinosis	GUncertain significance
Select item 222948	NM_004425.4(ECM1):c.658T>G (p.Cys220Gly)	ECM1 (C220G +1 more)	Single nucleotide variant (missense variant)	Lipid proteinosis	Gnot provided
Select item 222946	NM_004425.4(ECM1):c.727C>T (p.Arg243Ter)	ECM1 (R243* +1 more)	Single nucleotide variant (nonsense +1 more)	Lipid proteinosis	Gnot provided
Select item 1184441	NM_004425.4(ECM1):c.742G>T (p.Glu248Ter)	ECM1 (E248* +1 more)	Single nucleotide variant (nonsense +1 more)	Autism	GUncertain significance
Select item 3065006	NM_004425.4(ECM1):c.749C>T (p.Ser250Leu)	ECM1 (S250L +1 more)	Single nucleotide variant (missense variant +1 more)	Lipid proteinosis	GUncertain significance
Select item 787216	NM_004425.4(ECM1):c.792G>A (p.Glu264=)	ECM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1192520	NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr)	ECM1 (C269Y +1 more)	Single nucleotide variant (missense variant +1 more)	Lipid proteinosis	GPathogenic/Likely pathogenic
Select item 222944	NM_004425.4(ECM1):c.826C>T (p.Gln276Ter)	ECM1 (Q276* +1 more)	Single nucleotide variant (nonsense +1 more)	Lipid proteinosis	Gnot provided
Select item 7471	NM_004425.4(ECM1):c.1019del (p.Gln340fs)	ECM1 (Q340fs +1 more)	Deletion (intron variant +1 more)	Lipid proteinosis	GLikely pathogenic
Select item 7472	NM_004425.4(ECM1):c.1036C>T (p.Gln346Ter)	ECM1 (Q346* +1 more)	Single nucleotide variant (nonsense +1 more)	Lipid proteinosis	GPathogenic
Select item 3064079	NM_004425.4(ECM1):c.1051C>T (p.Gln351Ter)	ECM1 (Q351* +1 more)	Single nucleotide variant (nonsense +1 more)	Lipid proteinosis	GLikely pathogenic
Select item 445438	NM_004425.4(ECM1):c.1083+10C>T	ECM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 376771	NM_004425.4(ECM1):c.1100A>T (p.Asp367Val)	ECM1 (D367V +2 more)	Single nucleotide variant (missense variant)	Lipid proteinosis +1 more	GBenign/Likely benign
Select item 1687218	NM_004425.4(ECM1):c.1209_1210insTAGGAAGCCAATTGATATCATAGCTCAGACCATACCTATGTATCCAAATGGTTCTTTTTTTCC (p.Asn404Ter)	ECM1 (N279* +2 more)	Insertion (nonsense)	Lipid proteinosis	GPathogenic
Select item 1255367	NM_004425.4(ECM1):c.1243G>A (p.Gly415Ser)	ECM1 (G290S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2585237	NM_004425.4(ECM1):c.1246C>T (p.Arg416Ter)	ECM1 (R443* +2 more)	Single nucleotide variant (nonsense)	Lipid proteinosis	GPathogenic/Likely pathogenic
Select item 1526253	NM_004425.4(ECM1):c.1287_1288del (p.Arg430fs)	ECM1 (R305fs +2 more)	Deletion (frameshift variant)	Lipid proteinosis	GPathogenic
Select item 3064070	NM_004425.4(ECM1):c.1304+33_*300del	ECM1	Deletion (splice acceptor variant +1 more)	Lipid proteinosis	GPathogenic
Select item 7473	NM_004425.4(ECM1):c.1304+35_*302del	ECM1	Deletion (splice acceptor variant +1 more)	Lipid proteinosis	GPathogenic
Select item 587581	NM_004425.4(ECM1):c.1393-1G>T	ECM1	Single nucleotide variant (splice acceptor variant)	Lipid proteinosis	GPathogenic
Select item 1802155	NM_004425.4(ECM1):c.1450_1454del (p.Ala484fs)	ECM1 (A359fs +2 more)	Deletion (frameshift variant)	Lipid proteinosis	GPathogenic
Select item 7852	NM_000314.8(PTEN):c.395G>T (p.Gly132Val)	PTEN (G132V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 160364	NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)	HRAS, LRRC56 (Q61R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +1 more	GLikely pathogenic
Select item 997963	NM_006121.4(KRT1):c.564C>G (p.Asn188Lys)	KRT1 (N188K)	Single nucleotide variant (missense variant)	Annular epidermolytic ichthyosis	GLikely pathogenic
Select item 253040	NM_002461.3(MVD):c.875A>G (p.Asn292Ser)	MVD (N292S)	Single nucleotide variant (missense variant)	Porokeratosis 7, multiple types	GPathogenic
Select item 1691386	NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met)	MAP3K3 (I437M +3 more)	Single nucleotide variant (missense variant)	Verrucous hemangioma +1 more	GPathogenic/Likely pathogenic
Select item 578037	NM_000455.5(STK11):c.1040C>T (p.Ala347Val)	LOC130062899, STK11 (A347V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

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Items: 40