ClinVar (all) for Orgtrack (Select 509662) - ClinVar

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

Links from Orgtrack

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336684	NM_002641.4(PIGA):c.104T>C (p.Ile35Thr)	PIGA (I35T)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more	GUncertain significance
Select item 3336683	NM_003665.4(FCN3):c.381_382insA (p.Gly128fs)	FCN3 (G117fs +1 more)	Insertion (frameshift variant)	Immunodeficiency due to ficolin3 deficiency	GLikely pathogenic
Select item 3336682	NM_000760.4(CSF3R):c.361+1G>T	CSF3R	Single nucleotide variant (splice donor variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely pathogenic
Select item 3336681	NM_001278431.2(C1QTNF5):c.434G>A (p.Cys145Tyr)	C1QTNF5, MFRP (C145Y)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GUncertain significance
Select item 3336680	NM_001330691.3(CEP78):c.604-2A>C	CEP78	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy and hearing loss 1	GLikely pathogenic
Select item 3336679	NM_133642.5(LARGE1):c.312G>A (p.Met104Ile)	LARGE1 (M104I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 3336678	NM_020547.3(AMHR2):c.514C>T (p.Arg172Ter)	AMHR2 (R172*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3336677	NM_032620.4(GTPBP3):c.846del (p.Thr283fs)	GTPBP3 (T283fs +2 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 23	GLikely pathogenic
Select item 3336676	NM_001378454.1(ALMS1):c.3295C>T (p.Gln1099Ter)	ALMS1 (Q1099* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GLikely pathogenic
Select item 3336675	NM_144672.4(OTOA):c.1822dup (p.Trp608fs)	OTOA (W284fs +2 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 22	GLikely pathogenic
Select item 3336674	NM_181789.4(GLDN):c.1525_1529del (p.Asp509fs)	GLDN (D385fs +1 more)	Deletion (frameshift variant)	Lethal congenital contracture syndrome 11	GLikely pathogenic
Select item 3336673	NM_001776.6(ENTPD1):c.457del (p.Glu153fs)	ENTPD1, ENTPD1-AS1 (E153fs +4 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 64	GLikely pathogenic
Select item 3336672	NM_020451.3(SELENON):c.243dup (p.Asp82Ter)	SELENON (D82*)	Duplication (nonsense)	Eichsfeld type congenital muscular dystrophy	GLikely pathogenic
Select item 3336671	NM_001270974.2(HYDIN):c.12721C>T (p.Gln4241Ter)	HYDIN (Q4241*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3336670	NM_016729.3(FOLR1):c.242T>G (p.Leu81Arg)	FOLR1 (L81R)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 3336669	NM_025137.4(SPG11):c.3783del (p.Gly1262fs)	SPG11 (G1262fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11 +2 more	GLikely pathogenic
Select item 3336668	NM_001371596.2(MFSD8):c.193C>T (p.Gln65Ter)	MFSD8 (Q20* +1 more)	Single nucleotide variant (nonsense)	Macular dystrophy with central cone involvement +1 more	GLikely pathogenic
Select item 3336667	NM_025009.5(CEP135):c.473-1G>C	CEP135	Single nucleotide variant (splice acceptor variant)	Microcephaly 8, primary, autosomal recessive	GLikely pathogenic
Select item 3336666	NM_178857.6(RP1L1):c.5170C>T (p.Gln1724Ter)	RP1L1 (Q1724*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 88	GLikely pathogenic
Select item 3336665	NM_007254.4(PNKP):c.1298+2T>A	PNKP	Single nucleotide variant (splice donor variant)	Microcephaly, seizures, and developmental delay +1 more	GLikely pathogenic
Select item 3336664	NM_001077365.2(POMT1):c.2001C>G (p.Cys667Trp)	POMT1 (C290W +11 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Orgtrack

Items: 21