ClinVar for MedGen (Select 17999) - ClinVar - NCBI

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Items: 18

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16762241.	NM_005022.4(PFN1):c.318_319dup (p.Asp107fs) GRCh37: Chr17:4849928-4849929 GRCh38: Chr17:4946633-4946634	PFN1	D107fs	Neurodegeneration, Amyotrophic lateral sclerosis type 18	Likely pathogenic (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10276642.	NM_018052.5(VAC14):c.2033C>A (p.Thr678Lys) GRCh37: Chr16:70729449 GRCh38: Chr16:70695546	VAC14	T444K, T678K	Neurodegeneration	Uncertain significance	no assertion criteria provided
Select item 8127913.	NM_001372044.2(SHANK3):c.1797C>A (p.Cys599Ter) GRCh37: Chr22:51137191 GRCh38: Chr22:50698763	SHANK3	C599*	Hyperammonemia, Intellectual disability, Neurodegeneration, Abnormal cerebral white matter morphology	Likely pathogenic	no assertion criteria provided
Select item 6252114.	NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) GRCh37: ChrX:122613916 GRCh38: ChrX:123480065	GRIA3	T776M	not provided, Intellectual disability	Conflicting interpretations of pathogenicity (Dec 14, 2022)	criteria provided, conflicting interpretations
Select item 3741275.	NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp) GRCh37: Chr20:3891311 GRCh38: Chr20:3910664	PANK2	R357W, R66W, R247W	Neurodegeneration, Pigmentary pallidal degeneration, Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	Pathogenic (Oct 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3741266.	NM_001386393.1(PANK2):c.564G>A (p.Met188Ile) GRCh37: Chr20:3888838 GRCh38: Chr20:3908191	PANK2	M298I, M7I, M188I	Neurodegeneration, Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	Pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 3740097.	NM_001098.3(ACO2):c.75C>T (p.Val25=) GRCh37: Chr22:41895768 GRCh38: Chr22:41499764	ACO2		Optic atrophy 9, Central hypoventilation, Neurodegeneration, Global developmental delay, Brain atrophy, Progressive microcephaly	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 3740088.	NM_001098.3(ACO2):c.76C>T (p.Leu26=) GRCh37: Chr22:41895769 GRCh38: Chr22:41499765	ACO2		Optic atrophy 9, Acute intermittent porphyria, Progressive microcephaly, Neurodegeneration, Global developmental delay, Central hypoventilation, Brain atrophy	Conflicting interpretations of pathogenicity (Jan 1, 2016)	criteria provided, conflicting interpretations
Select item 3740079.	NM_001098.3(ACO2):c.1395G>C (p.Lys465Asn) GRCh37: Chr22:41919858 GRCh38: Chr22:41523854	ACO2	K465N	Central hypoventilation, Neurodegeneration, Global developmental delay, Brain atrophy, Progressive microcephaly	Uncertain significance (Oct 6, 2015)	criteria provided, single submitter
Select item 37400610.	NM_001098.3(ACO2):c.1397A>C (p.Asn466Thr) GRCh37: Chr22:41919860 GRCh38: Chr22:41523856	ACO2	N466T	Central hypoventilation, Neurodegeneration, Global developmental delay, Brain atrophy, Progressive microcephaly	Uncertain significance (Oct 6, 2015)	criteria provided, single submitter
Select item 20741811.	NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) GRCh37: Chr9:130425623 GRCh38: Chr9:127663344	STXBP1	R190Q, R176Q, R187Q	not provided, Developmental and epileptic encephalopathy, 4, Inborn genetic diseases, Early infantile epileptic encephalopathy with suppression bursts	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 18334112.	NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) GRCh37: Chr1:231131622 GRCh38: Chr1:230995876	ARV1	G189R, G222R	Abnormality of the nervous system	Likely pathogenic (Jul 10, 2021)	criteria provided, single submitter
Select item 18333713.	NM_016955.4(SEPSECS):c.1028_1120+1del GRCh37: Chr4:25128885-25128978 GRCh38: Chr4:25127263-25127356	SEPSECS		Neurodegeneration, Cerebellar ataxia, Spastic diplegia, Dysarthria, Elliptical nystagmus, Progressive limb weakness	Likely pathogenic (Dec 1, 2014)	no assertion criteria provided
Select item 18329814.	NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg) GRCh37: Chr19:30199197 GRCh38: Chr19:29708290	C19orf12	G42R, G53R	Hereditary spastic paraplegia 43, not provided, Hereditary spastic paraplegia	Conflicting interpretations of pathogenicity (Apr 14, 2023)	criteria provided, conflicting interpretations
Select item 3950015.	NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) GRCh37: Chr4:108866582 GRCh38: Chr4:107945426	CYP2U1	D316V	Spastic paraplegia, Hereditary spastic paraplegia 56, not provided	Pathogenic/Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3704016.	NM_005125.2(CCS):c.487C>T (p.Arg163Trp) GRCh37: Chr11:66368018 GRCh38: Chr11:66600547	CCS	R163W	Neurodegeneration	Uncertain significance (Aug 1, 2012)	no assertion criteria provided
Select item 3045917.	NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) GRCh37: Chr17:78185927 GRCh38: Chr17:80212128	SGSH	S298P	Sanfilippo syndrome, not provided, Mucopolysaccharidosis, MPS-III-A	Pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 510718.	NM_000199.5(SGSH):c.734G>A (p.Arg245His) GRCh37: Chr17:78187614 GRCh38: Chr17:80213815	CARD14, SGSH	R245H	SGSH-related condition, Inborn genetic diseases, Sanfilippo syndrome, not provided, Mucopolysaccharidosis, MPS-III-A	Pathogenic (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts