ClinVar (all) for Orgtrack (Select 506852) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983312	GRCh37/hg19 5q13.2(chr5:70247768-70248841)x1	SMN1	Copy number loss	Werdnig-Hoffmann disease	GPathogenic
Select item 983311	GRCh37/hg19 5q13.2(chr5:70247768-70248841)x1	SMN1	Copy number loss	Werdnig-Hoffmann disease	GPathogenic
Select item 983310	GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1	BOLL, C2orf66 +20 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 983309	NM_020919.4(ALS2):c.346G>A (p.Gly116Arg)	ALS2 (G116R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile	GUncertain significance
Select item 983308	NM_003482.4(KMT2D):c.2425dup (p.Gln809fs)	KMT2D (Q809fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 983306	NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe)	PIEZO1 (L2094F)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 800552	NM_017654.4(SAMD9):c.2247C>A (p.His749Gln)	SAMD9 (H749Q)	Single nucleotide variant (missense variant)	MIRAGE syndrome	GLikely pathogenic
Select item 455870	NM_004006.3(DMD):c.186+1G>A	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 254648	NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	PPP1CB (P49R)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +3 more	GPathogenic
Select item 239608	NM_004006.3(DMD):c.5506C>T (p.Gln1836Ter)	DMD (Q1836* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 187722	NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)	NF1 (R304*)	Single nucleotide variant (nonsense)	not specified +8 more	GPathogenic