ClinVar for MedGen (Select 96907) - ClinVar - NCBI

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Items: 15

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16910971.	NM_004521.3(KIF5B):c.1610T>C (p.Leu537Pro) GRCh37: Chr10:32317471 GRCh38: Chr10:32028543	KIF5B	L537P	Seizure, Respiratory distress, Abnormal facial shape, Intellectual disability, Severe muscular hypotonia, Global developmental delay	Pathogenic	criteria provided, single submitter
Select item 6917982.	NM_001346249.2(RALGAPA1):c.4745A>G (p.Asn1582Ser) GRCh37: Chr14:36143795 GRCh38: Chr14:35674589	RALGAPA1	N1535S, N1582S, N1076S, N1089S, N1123S	Infantile spasms, Respiratory distress, Feeding difficulties, Generalized hypotonia	Pathogenic (Sep 24, 2019)	criteria provided, single submitter
Select item 6917973.	NM_001346249.2(RALGAPA1):c.7250C>G (p.Ser2417Ter) GRCh37: Chr14:36041884 GRCh38: Chr14:35572678	RALGAPA1	S1911, S1958, S2370, S1924, S2417*	Infantile spasms, Respiratory distress, Feeding difficulties, Generalized hypotonia	Pathogenic (Sep 24, 2019)	criteria provided, single submitter
Select item 6917964.	NM_001346249.2(RALGAPA1):c.610G>T (p.Glu204Ter) GRCh37: Chr14:36226052 GRCh38: Chr14:35756846	RALGAPA1	E204*	Infantile spasms, Respiratory distress, Feeding difficulties, Generalized hypotonia	Pathogenic (Sep 24, 2019)	criteria provided, single submitter
Select item 6917955.	NM_001346249.2(RALGAPA1):c.6510del (p.Phe2170fs) GRCh37: Chr14:36096643 GRCh38: Chr14:35627437	RALGAPA1	F1711fs, F2123fs, F2170fs, F1664fs, F1677fs	Infantile spasms, Respiratory distress, Feeding difficulties, Generalized hypotonia	Pathogenic (Sep 24, 2019)	criteria provided, single submitter
Select item 6917946.	NM_001346249.2(RALGAPA1):c.1126C>T (p.Arg376Ter) GRCh37: Chr14:36217916 GRCh38: Chr14:35748710	RALGAPA1	R376*	Infantile spasms, Respiratory distress, Feeding difficulties, Generalized hypotonia	Pathogenic (Sep 24, 2019)	criteria provided, single submitter
Select item 5989807.	NM_001089.3(ABCA3):c.614-2A>G GRCh37: Chr16:2369843 GRCh38: Chr16:2319842	ABCA3		Pulmonary arterial hypertension, Respiratory distress, Neonatal respiratory distress, See cases	Likely pathogenic (Dec 21, 2022)	criteria provided, single submitter
Select item 5989798.	NM_001089.3(ABCA3):c.3200G>A (p.Gly1067Glu) GRCh37: Chr16:2336773 GRCh38: Chr16:2286772	ABCA3	G1067E	Pulmonary arterial hypertension, Respiratory distress, Neonatal respiratory distress, See cases	Uncertain significance (Dec 21, 2022)	criteria provided, single submitter
Select item 5989789.	NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe) GRCh37: Chr8:22020207 GRCh38: Chr8:22162694	SFTPC	L55F	SFTPC-related condition, Myopathy, Skeletal myopathy, Restrictive ventilatory defect, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness in upper limbs, Infantile axial hypotonia, Generalized hypotonia, Neonatal hypotonia, Proximal muscle weaknessAbnormal pulmonary interstitial morphology, Congenital peripheral neuropathy, Pulmonary alveolar proteinosis, Respiratory distress, ...see more	Likely pathogenic (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44948810.	NM_004004.6(GJB2):c.488T>C (p.Met163Thr) GRCh37: Chr13:20763233 GRCh38: Chr13:20189094	GJB2	M163T	Nonsyndromic genetic hearing loss	Uncertain significance (Apr 29, 2020)	reviewed by expert panel FDA Recognized Database
Select item 42478211.	NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]			Autosomal recessive distal spinal muscular atrophy 1	Likely pathogenic (Apr 16, 2013)	criteria provided, single submitter
Select item 37396612.	NM_177402.5(SYT2):c.1084_1089del (p.Tyr362_Asp363del) GRCh37: Chr1:202566056-202566061 GRCh38: Chr1:202596928-202596933	SYT2		Muscle weakness, Respiratory distress	Likely pathogenic (Jan 18, 2016)	no assertion criteria provided
Select item 37396513.	NM_000304.4(PMP22):c.422T>G (p.Val141Gly) GRCh37: Chr17:15134295 GRCh38: Chr17:15230978	PMP22	V141G	Roussy-Lévy syndrome, Spasticity, Respiratory distress, Tongue fasciculations	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 24249914.	NM_002180.2(IGHMBP2):c.92G>A GRCh37: Chr11:68673542 GRCh38: Chr11:68906074	IGHMBP2	W31*	Ptosis, Tachypnea, Severe muscular hypotonia, Clonus, Hyperreflexia, Failure to thrive, Respiratory distress	Pathogenic (Feb 16, 2016)	criteria provided, single submitter
Select item 4426115.	NM_001927.4(DES):c.407T>A (p.Leu136His) GRCh37: Chr2:220283591 GRCh38: Chr2:219418869	DES	L136H	Myopathy, Neonatal respiratory distress, Restrictive ventilatory defect, Congenital peripheral neuropathy, Proximal muscle weakness, Abnormal pulmonary interstitial morphology, Generalized hypotonia, Neonatal hypotonia, Skeletal myopathy, Pulmonary alveolar proteinosis, Proximal muscle weakness in upper limbsInfantile axial hypotonia, Respiratory insufficiency due to muscle weakness, Respiratory distress, Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, not specified, not provided, Cardiomyopathy, ...see more	Uncertain significance (Jun 29, 2023)	criteria provided, multiple submitters, no conflicts