ClinVar for MedGen (Select 155642) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802158	NM_018122.5(DARS2):c.[228-10C>A];[492+2T>C]			Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GPathogenic
Select item 985841	NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr)	GRIK2 (A657T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures +2 more	GPathogenic
Select item 915835	NM_016035.5(COQ4):c.[284G>A;305G>A]	COQ4 (G95D +2 more)	Single nucleotide variant (missense variant +1 more)	Gait ataxia +3 more	GPathogenic
Select item 545691	NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	CACNA1A (R279C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 523530	NM_020549.5(CHAT):c.403C>T (p.Pro135Ser)	CHAT (P135S +2 more)	Single nucleotide variant (missense variant)	Muscle weakness +5 more	GUncertain significance
Select item 523439	NM_001376.5(DYNC1H1):c.13298A>C (p.Asp4433Ala)	DYNC1H1 (D4433A)	Single nucleotide variant (missense variant)	Impaired vibration sensation in the lower limbs +6 more	GUncertain significance
Select item 523338	NM_000161.3(GCH1):c.655C>T (p.Gln219Ter)	GCH1 (Q219*)	Single nucleotide variant (nonsense +1 more)	Rigidity +5 more	GLikely pathogenic
Select item 523308	GRCh37/hg19 16q24.3(chr16:89616901-89620368)	SPG7	Copy number loss	Memory impairment +3 more	GLikely pathogenic
Select item 424800	NM_003119.3(SPG7):c.[1529C>T];[2120delTinsCCAAGTCTGTA]			Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 411680	NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)	SPG7	Deletion (splice acceptor variant)	Spastic paraplegia +10 more	GPathogenic
Select item 374056	NM_001166114.2(PNPLA6):c.3302G>A (p.Arg1101His)	PNPLA6 (R1063H +3 more)	Single nucleotide variant (missense variant)	Dysarthria +2 more	GUncertain significance
Select item 374055	NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)	PNPLA6 (R1311W +3 more)	Single nucleotide variant (missense variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome +8 more	GConflicting classifications of pathogenicity
Select item 224144	NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	LOC129935026, TBR1 (T532fs)	Microsatellite (frameshift variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies +12 more	GPathogenic/Likely pathogenic
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +11 more	GPathogenic/Likely pathogenic
Select item 1062	NM_018122.5(DARS2):c.492+2T>C	DARS2	Single nucleotide variant (splice donor variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +15 more	GPathogenic
Select item 1057	NM_018122.5(DARS2):c.228-21_228-20delinsC	DARS2	Indel (intron variant)	Cerebral cortical atrophy +14 more	GPathogenic