ClinVar for MedGen (Select 892680) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17084391.	NM_004006.3(DMD):c.1929G>A (p.Trp643Ter) GRCh37: ChrX:32583882 GRCh38: ChrX:32565765	DMD	W520, W635, W639, W643	Skeletal muscle atrophy	Pathogenic (Dec 10, 2021)	criteria provided, single submitter
Select item 11850032.	NM_024704.5(KIF16B):c.3773_3774del (p.Ala1258fs) GRCh37: Chr20:16293001-16293002 GRCh38: Chr20:16312356-16312357	KIF16B	A1207fs, A1258fs	Skeletal muscle atrophy	Uncertain significance (Mar 17, 2021)	criteria provided, single submitter
Select item 9928173.	NM_015295.3(SMCHD1):c.3660_3661del (p.Gly1221fs) GRCh37: Chr18:2743783-2743784 GRCh38: Chr18:2743785-2743786	SMCHD1	G1221fs	Skeletal muscle atrophy	Pathogenic	no assertion criteria provided
Select item 9771564.	NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) GRCh37: Chr1:201038724 GRCh38: Chr1:201069596	CACNA1S	R789H	skeletal contractures, Skeletal muscle atrophy, Hypokalemic periodic paralysis, type 1	Uncertain significance (Jan 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6337805.	NM_012465.4(TLL2):c.1609C>T (p.His537Tyr) GRCh37: Chr10:98155061 GRCh38: Chr10:96395304	TLL2	H537Y	Tongue fasciculations, Proximal amyotrophy, EMG: neuropathic changes, Spinal muscular atrophy, Hand tremor, Proximal muscle weakness, Skeletal muscle atrophy	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 6337796.	NM_012465.4(TLL2):c.112G>C (p.Glu38Gln) GRCh37: Chr10:98273331 GRCh38: Chr10:96513574	TLL2	E38Q	Tongue fasciculations, Proximal amyotrophy, EMG: neuropathic changes, Spinal muscular atrophy, Hand tremor, Proximal muscle weakness, Skeletal muscle atrophy	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 4224087.	NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) GRCh37: Chr9:95481289-95481291 GRCh38: Chr9:92719007-92719009	BICD2	N546del	Open mouth, Muscle weakness, Macrocephaly, Skeletal muscle atrophy, EEG abnormality, Tapered finger, Seizure, Feeding difficulties, Decreased fetal movement, Downturned corners of mouth, Recurrent fracturesArthrogryposis multiplex congenita, Cerebral cortical atrophy, Absent speech, not provided, Inborn genetic diseases, ...see more	Pathogenic/Likely pathogenic (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2883858.	NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr) GRCh37: Chr2:238249200 GRCh38: Chr2:237340557	COL6A3	A2787T, A2180T, A2581T	not provided, Bethlem myopathy 1, Inability to walk, Numerous nevi, Dental malocclusion, Sensory ataxia, Abnormality of the dorsal column of the spinal cord, Skeletal muscle atrophy, Abnormality of the vertebral column	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 2428869.	NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn) GRCh37: ChrX:152845687 GRCh38: ChrX:153580229	ATP2B3	K1198N	X-linked progressive cerebellar ataxia	Likely pathogenic (Nov 25, 2019)	criteria provided, single submitter
Select item 229810.	NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) GRCh37: Chr11:64527223 GRCh38: Chr11:64759751	PYGM	R50*	Inborn genetic diseases, not provided, Glycogen storage disease, type V, See cases	Pathogenic (Jun 22, 2023)	criteria provided, multiple submitters, no conflicts