ClinVar (all) for Orgtrack (Select 506260) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2681727	NM_001323572.2(CCP110):c.856_857del (p.Val286fs)	CCP110 (V286fs)	Microsatellite (frameshift variant)	See cases	GLikely pathogenic
Select item 2681148	NM_001323572.2(CCP110):c.1129C>T (p.Arg377Ter)	CCP110 (R377*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 2674622	NM_000082.4:c.[275+768_399+346del;399+347_399+2002inv;399+2003_399+2557delinsTACTTAAT]	ERCC8	Indel	Cockayne syndrome type 1	GPathogenic
Select item 2672303	Single allele	DEPDC1B, ELOVL7 +1 more	Deletion	Cockayne syndrome type 1	GPathogenic
Select item 2582291	NM_000193.4(SHH):c.1302G>A (p.Trp434Ter)	SHH (W434*)	Single nucleotide variant (nonsense +1 more)	See cases	GPathogenic
Select item 2582290	NM_000193.4(SHH):c.1215_1217delinsA (p.Asp405fs)	SHH (D405fs)	Indel (frameshift variant +1 more)	See cases	GPathogenic
Select item 2505168	NM_001357.5(DHX9):c.1240G>A (p.Gly414Arg)	DHX9 (G414R)	Single nucleotide variant (missense variant +1 more)	DHX9-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1697252	NM_022807.5(SNRPN):c.-390-9497_-390-228del	SNHG14, SNRPN +1 more	Deletion (intron variant +2 more)	Prader-Willi syndrome	GPathogenic
Select item 810594	NM_001029896.2(WDR45):c.235+159C>G	LOC126863256, WDR45	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 431083	NM_024665.7(TBL1XR1):c.977G>T (p.Ser326Ile)	LOC126806878, TBL1XR1 +1 more (S326I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GLikely pathogenic
Select item 430724	NM_001320.7(CSNK2B):c.108dup (p.Thr37fs)	CSNK2B (T37fs)	Duplication (frameshift variant)	Poirier-Bienvenu neurodevelopmental syndrome +1 more	GPathogenic