leucopogon mcrae - ClinVar

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Items: 39

The following term was not found in ClinVar: leucopogon.
Showing results for Leucopogon maccraei. Your search for Leucopogon maccraei retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030830	NM_024503.5(HIVEP3):c.1602del (p.Val535fs)	HIVEP3 (V535fs)	Deletion (frameshift variant)	HIVEP3-related disorder	GUncertain significance
Select item 985323	NM_002107.7(H3-3A):c.244G>C (p.Asp82His)	H3-3A (D82H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 567443	NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met)	RYR2 (T2504M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 202384	NM_001267550.2(TTN):c.51436+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 437098	NM_001267550.2(TTN):c.18943G>A (p.Val6315Met)	LOC126806430, TTN (V5071M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 242318	NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp)	HECW2 (R1330W +1 more)	Single nucleotide variant (missense variant)	HECW2-related disorder +3 more	GPathogenic
Select item 1807740	GRCh37/hg19 2q24.2(chr2:160229645-160357102)x1	BAZ2B	Copy number loss	not provided	GPathogenic
Select item 572893	NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg)	SLC6A1, SLC6A1-AS1 (G111R)	Single nucleotide variant (missense variant +2 more)	SLC6A1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 521901	NM_014159.6(SETD2):c.4457_4460del	SETD2	Microsatellite	Inborn genetic diseases +1 more	GPathogenic
Select item 867244	NM_032242.4(PLXNA1):c.3554G>A (p.Arg1185Gln)	PLXNA1 (R1185Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 938090	NM_001127644.2(GABRA1):c.824A>G (p.Asn275Ser)	GABRA1 (N275S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 40011	NM_001005216.4(OR2J3):c.337A>G (p.Thr113Ala)	OR2J3 (T113A)	Single nucleotide variant (missense variant)	C3HEX, ability to smell	GAffects
Select item 40012	NM_001005216.4(OR2J3):c.677G>A (p.Arg226Gln)	OR2J3 (R226Q)	Single nucleotide variant (missense variant)	C3HEX, ability to smell	GAffects
Select item 588356	NM_004408.4(DNM1):c.415G>A (p.Gly139Arg)	DNM1, LOC113839516 (G139R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 208648	NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)	ZMYND11 (R600W +15 more)	Single nucleotide variant (missense variant +1 more)	ZMYND11-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 266123	NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile)	CHD4 (V1608I +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GConflicting classifications of pathogenicity
Select item 266124	NM_001273.5(CHD4):c.3203G>A (p.Arg1068His)	CHD4 (R1068H +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome +1 more	GPathogenic
Select item 2633887	NM_001273.5(CHD4):c.3202C>A (p.Arg1068Ser)	CHD4 (R1055S +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GLikely pathogenic
Select item 266125	NM_001273.5(CHD4):c.2552C>A (p.Ser851Tyr)	CHD4 (S851Y +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GPathogenic
Select item 2593337	NM_001366521.1(ATP2B1):c.2536C>T (p.Arg846Ter)	ATP2B1 (R780* +7 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 13329	NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	PTPN11 (Y62D +1 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 2633307	NM_001376.5(DYNC1H1):c.3994G>A (p.Val1332Ile)	DYNC1H1 (V1332I)	Single nucleotide variant (missense variant)	DYNC1H1-related disorder	GUncertain significance
Select item 424046	NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)	DYNC1H1 (R1623Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1705192	NM_001145358.2(SIN3A):c.377C>T (p.Ala126Val)	SIN3A (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347944	NM_001009944.3(PKD1):c.12085G>A (p.Val4029Ile)	PKD1 (V4028I +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 2631544	NM_013275.6(ANKRD11):c.5810dup (p.Pro1938fs)	ANKRD11 (P1938fs)	Duplication (frameshift variant)	ANKRD11-related disorder	GLikely pathogenic
Select item 436495	NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys)	RAI1 (E491K)	Single nucleotide variant (missense variant)	Smith-Magenis syndrome +2 more	GUncertain significance
Select item 1333673	NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln)	SMARCA4 (R978Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 521503	NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)	PPP2R1A (S219L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 694669	NM_014516.4(CNOT3):c.732dup (p.Ser245fs)	CNOT3 (S245fs)	Indel (frameshift variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies +1 more	GConflicting classifications of pathogenicity
Select item 2631662	NM_001958.5(EEF1A2):c.754G>A (p.Asp252Asn)	EEF1A2 (D252N)	Single nucleotide variant (missense variant)	EEF1A2-related disorder	GLikely pathogenic
Select item 1453718	NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter)	LZTR1 (Y155*)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 422103	NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)	MORC2 (R132C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Z +6 more	GConflicting classifications of pathogenicity
Select item 804164	NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)	MORC2 (E27K)	Single nucleotide variant (missense variant +1 more)	MORC2-related disorder +6 more	GPathogenic
Select item 3344174	NM_001356.5(DDX3X):c.1021T>C (p.Cys341Arg)	DDX3X (C155R +2 more)	Single nucleotide variant (missense variant +1 more)	DDX3X-related disorder	GLikely pathogenic
Select item 3346574	NM_001029896.2(WDR45):c.973+5G>C	WDR45	Single nucleotide variant (intron variant)	WDR45-related disorder	GUncertain significance
Select item 11829	NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	MECP2 (R255* +3 more)	Single nucleotide variant (nonsense)	not provided +9 more	GPathogenic/Likely pathogenic

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Items: 39