ClinVar for MedGen (Select 1717) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983478	NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro)	LOC125371495, NDUFA13 (L36P)	Single nucleotide variant (missense variant)	Nystagmus +5 more	GPathogenic
Select item 983476	NM_015965.7(NDUFA13):c.194del (p.Phe65fs)	NDUFA13 (F65fs)	Deletion (frameshift variant)	Nystagmus +5 more	GPathogenic
Select item 976657	NM_024122.5(APOO):c.350T>C (p.Ile117Thr)	APOO (I117T)	Single nucleotide variant (missense variant +1 more)	Lactic acidosis +2 more	GPathogenic
Select item 930177	NM_002495.4(NDUFS4):c.350+5G>A	NDUFS4	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GPathogenic
Select item 812762	NM_018297.4(NGLY1):c.758G>T (p.Cys253Phe)	NGLY1 (C253F +1 more)	Single nucleotide variant (missense variant)	Fetal growth restriction +2 more	GUncertain significance
Select item 638210	NM_014672.4(PRORP):c.1197dup (p.Ser400fs)	PRORP, PRORP-PSMA6 (S28fs +3 more)	Duplication (frameshift variant)	Microcephaly +9 more	GPathogenic/Likely pathogenic
Select item 638209	NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln)	PRORP, PRORP-PSMA6 (R445Q +3 more)	Single nucleotide variant (missense variant)	Microcephaly +9 more	GPathogenic/Likely pathogenic
Select item 619501	NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp)	UQCRFS1 (V14D)	Single nucleotide variant (missense variant)	Propionic acidemia +2 more	GPathogenic
Select item 619499	NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter)	UQCRFS1 (R204*)	Single nucleotide variant (nonsense)	Propionic acidemia +2 more	GPathogenic
Select item 619297	NM_006003.3(UQCRFS1):c.215-1G>C	UQCRFS1	Single nucleotide variant (splice acceptor variant)	Propionic acidemia +2 more	GPathogenic
Select item 560389	NM_005548.3(KARS1):c.1354del (p.Leu452fs)	LOC126862402, KARS1 (L452fs +2 more)	Deletion (frameshift variant)	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS +4 more	GPathogenic
Select item 523529	NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys)	CHAT (S576C +2 more)	Single nucleotide variant (missense variant)	Gastroesophageal reflux +11 more	GPathogenic
Select item 523528	NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)	CHAT (T236M +2 more)	Single nucleotide variant (missense variant)	Aspiration pneumonia +11 more	GPathogenic/Likely pathogenic
Select item 432972	NM_004046.6(ATP5F1A):c.620G>A (p.Arg207His)	ATP5F1A (R207H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic