ClinVar (all) for Orgtrack (Select 507971) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066045	NM_175748.4(UBR7):c.227T>G (p.Leu76Ter)	UBR7 (L76*)	Single nucleotide variant (nonsense)	Li-Campeau syndrome	GLikely pathogenic
Select item 3066044	NM_175748.4(UBR7):c.1207C>T (p.Gln403Ter)	UBR7 (Q252* +1 more)	Single nucleotide variant (nonsense +1 more)	Li-Campeau syndrome	GLikely pathogenic
Select item 2505161	NC_000016.10:g.74773969_74776493del	FA2H, LOC130059393 +3 more	Deletion	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 1810399	GRCh37/hg19 6p25.3(chr6:160000-820000)x1	DUSP22, EXOC2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1806456	Single allele	MT-CYB, MT-ND4 +6 more	Deletion	Pearson syndrome	GPathogenic
Select item 1294425	NM_175748.4(UBR7):c.35_54dup (p.Ser19fs)	UBR7 (S19fs)	Duplication (frameshift variant +1 more)	Intellectual disability, mild	GPathogenic
Select item 1292051	NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs)	BCL11B (E749fs +3 more)	Duplication (frameshift variant)	Immunodeficiency 49 +1 more	GPathogenic
Select item 1292050	NM_175748.4(UBR7):c.863T>C (p.Leu288Pro)	UBR7 (L288P)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GUncertain significance
Select item 1292046	NM_138576.4(BCL11B):c.427+1G>A	BCL11B	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 1210164	NM_018947.6(CYCS):c.79C>T (p.His27Tyr)	CYCS (H27Y)	Single nucleotide variant (missense variant)	Thrombocytopenia 4 +1 more	GPathogenic/Likely pathogenic
Select item 997771	NM_001032386.2(SUOX):c.1201A>G (p.Lys401Glu)	SUOX (K401E)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 997770	NM_001032386.2(SUOX):c.475G>T (p.Glu159Ter)	SUOX (E159*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency	GLikely pathogenic