ClinVar (all) for Orgtrack (Select 506643) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 995805	NM_001330588.2(TPP2):c.2394-550_2952+659del	TPP2	Deletion (splice acceptor variant +1 more)	Immunodeficiency 78 with autoimmunity and developmental delay +7 more	GPathogenic
Select item 992638	NM_001267727.2(ARSG):c.338G>A (p.Gly113Asp)	ARSG (G113D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 992583	NM_001267727.2(ARSG):c.1326del (p.Ser443fs)	ARSG, PRKAR1A (S442fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 989395	NC_000002.12:g.118554361_118617148delins118227316_118229892	LOC101927709	Indel	ENDOVES (EN1-associated dorsoventral syndrome)	GPathogenic
Select item 989394	NM_001426.4(EN1):c.317dup (p.Ile107fs)	EN1 (I107fs)	Duplication (frameshift variant)	Endove syndrome, limb-brain type +1 more	GPathogenic
Select item 989393	NC_000002.12:g.118561491_118589321del		Deletion	ENDOVES (EN1-associated dorsoventral syndrome)	GPathogenic
Select item 961169	NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro)	ARSG (S85P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 694325	NM_001326411.2(PISD):c.1006-12_1006-3del	PISD	Deletion (intron variant)	Liberfarb syndrome	GPathogenic
Select item 548118	NM_002109.6(HARS1):c.397G>T (p.Val133Phe)	HARS1 (V133F +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Charcot-Marie-Tooth disease type 2W	GLikely pathogenic
Select item 459937	NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)	PCCA (V673L +7 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +2 more	GConflicting classifications of pathogenicity