"Moyamoya angiopathy"[Disease/phenotype] AND "University of Washington - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982212	NM_005026.5(PIK3CD):c.2341G>A (p.Gly781Arg)	PIK3CD (G752R +2 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982225	NM_024758.5(AGMAT):c.481G>A (p.Asp161Asn)	AGMAT (D161N)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982193	NM_000427.3(LORICRIN):c.619G>T (p.Gly207Cys)	LOC129931468, LORICRIN (G207C)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982219	NM_199351.3(ILDR2):c.1049G>A (p.Arg350His)	ILDR2 (R350H)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982230	NM_002236.5(KCNF1):c.845T>C (p.Leu282Pro)	KCNF1 (L282P)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982213	NM_022152.6(TMBIM1):c.827G>A (p.Arg276Gln)	PNKD, TMBIM1 (R165Q +1 more)	Single nucleotide variant (missense variant +2 more)	Moyamoya angiopathy	GLikely pathogenic
Select item 982191	NM_001100818.2(PID1):c.586G>A (p.Asp196Asn)	PID1 (D147N +4 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982231	NM_014850.4(SRGAP3):c.2281C>T (p.Arg761Cys)	SRGAP3 (R737C +1 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 432024	NM_001080517.3(SETD5):c.1015G>T (p.Asp339Tyr)	SETD5 (D339Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 982186	NM_001080517.3(SETD5):c.1981del (p.Glu661fs)	SETD5 (E563fs +1 more)	Deletion (frameshift variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 982187	NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys)	SETD5 (R669C +1 more)	Single nucleotide variant (missense variant)	SETD5-related condition +3 more	GConflicting classifications of pathogenicity
Select item 982228	NM_001164664.2(MAST4):c.3475C>T (p.Arg1159Trp)	MAST4 (R1159W +4 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 965019	NM_001374736.1(DST):c.19466C>T (p.Ala6489Val)	DST (A4192V +7 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GUncertain significance
Select item 437699	NM_001278716.2(FBXL4):c.1126G>A (p.Glu376Lys)	FBXL4 (E376K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 982232	NM_015395.3(TECPR1):c.2899C>T (p.Arg967Cys)	TECPR1 (R967C)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982218	NM_001130053.5(EEF1D):c.1099A>G (p.Met367Val)	EEF1D (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Moyamoya angiopathy	GLikely pathogenic
Select item 982227	NM_001330691.3(CEP78):c.22C>T (p.Arg8Cys)	CEP78 (R8C)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982223	NM_005157.6(ABL1):c.292G>T (p.Glu98Ter)	ABL1 (E117* +1 more)	Single nucleotide variant (nonsense)	Moyamoya angiopathy	GLikely pathogenic
Select item 982195	NM_003591.4(CUL2):c.2192T>C (p.Ile731Thr)	CUL2 (I600T +4 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982190	NM_017649.5(CNNM2):c.1051G>C (p.Gly351Arg)	CNNM2 (G351R)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982189	NM_005898.5(CAPRIN1):c.811C>T (p.Gln271Ter)	CAPRIN1 (Q271*)	Single nucleotide variant (nonsense)	Moyamoya angiopathy	GLikely pathogenic
Select item 982194	NM_002419.4(MAP3K11):c.847G>A (p.Ala283Thr)	MAP3K11 (A283T)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982224	NM_032223.4(PCNX3):c.229_230del (p.Val77fs)	PCNX3 (V77fs)	Deletion (frameshift variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982188	NM_003105.6(SORL1):c.2878C>G (p.Leu960Val)	SORL1 (L960V)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982183	NM_001273.5(CHD4):c.5638C>T (p.Pro1880Ser)	CHD4 (P1870S +2 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 982182	NM_001273.5(CHD4):c.5273A>G (p.Tyr1758Cys)	CHD4 (Y1747C +2 more)	Single nucleotide variant (missense variant)	CHD4-related condition	GUncertain significance
Select item 982181	NM_001273.5(CHD4):c.5221A>G (p.Ile1741Val)	CHD4 (I1730V +2 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 982146	NM_001273.5(CHD4):c.3533C>T (p.Ala1178Val)	CHD4 (A1165V +2 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 982180	NM_001273.5(CHD4):c.1686+1G>T	CHD4	Single nucleotide variant (splice donor variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 982179	NM_001273.5(CHD4):c.1481C>T (p.Thr494Met)	CHD4 (T481M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982178	NM_001273.5(CHD4):c.22C>T (p.Pro8Ser)	CHD4 (P8S)	Single nucleotide variant (missense variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 982196	NM_182947.4(ARHGEF25):c.1327C>T (p.Arg443Cys)	ARHGEF25 (R413C +2 more)	Single nucleotide variant (missense variant +1 more)	Moyamoya angiopathy	GLikely pathogenic
Select item 982214	NM_001367871.1(FBRSL1):c.1522C>G (p.Gln508Glu)	FBRSL1 (Q508E +1 more)	Single nucleotide variant (missense variant +1 more)	Moyamoya angiopathy	GLikely pathogenic
Select item 982220	NM_144777.3(SCEL):c.175G>A (p.Gly59Ser)	SCEL (G59S)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982216	NM_004727.3(SLC24A1):c.635A>G (p.His212Arg)	SLC24A1 (H212R)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982211	NM_006885.4(ZFHX3):c.3432C>A (p.Cys1144Ter)	ZFHX3 (C1144* +1 more)	Single nucleotide variant (nonsense)	Moyamoya angiopathy	GLikely pathogenic
Select item 982229	NM_001042492.3(NF1):c.5816T>C (p.Ile1939Thr)	NF1 (I1918T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 982226	NM_001376007.1(SLFN11):c.2603T>C (p.Ile868Thr)	SLFN11 (I868T)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 417846	NM_001256071.3(RNF213):c.12040C>A (p.His4014Asn)	RNF213, RNF213-AS1 (H4014N)	Single nucleotide variant (missense variant)	Moyamoya disease 2 +1 more	GLikely pathogenic
Select item 210001	NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del)	RNF213-AS1, RNF213 (K4115del)	Deletion (inframe_deletion)	Moyamoya angiopathy +1 more	GLikely pathogenic
Select item 982215	NM_001256071.3(RNF213):c.12360C>G (p.Phe4120Leu)	RNF213-AS1, RNF213 (F4120L)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 88673	NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	SMAD4 (R496C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 982192	NM_001005361.3(DNM2):c.2204T>C (p.Ile735Thr)	DNM2 (I731T +1 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982184	NM_014516.4(CNOT3):c.643C>T (p.Gln215Ter)	CNOT3 (Q215*)	Single nucleotide variant (nonsense)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 808650	NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser)	CNOT3 (G304S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 982185	NM_014516.4(CNOT3):c.1564C>A (p.Leu522Ile)	CNOT3 (L522I)	Single nucleotide variant (missense variant)	Moyamoya angiopathy with developmental delay	GLikely pathogenic
Select item 982221	NM_133460.3(ZNF418):c.1757C>T (p.Thr586Ile)	ZNF418 (T501I +3 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982222	NM_001011718.2(XKR7):c.1475G>A (p.Arg492His)	XKR7 (R492H)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 982217	NM_014253.3(TENM1):c.4853T>G (p.Leu1618Arg)	TENM1 (L1618R +2 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49