ClinVar (all) for Orgtrack (Select 506233) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633777	NM_020940.4(FHIP2A):c.115G>T (p.Glu39Ter)	FHIP2A (E39*)	Single nucleotide variant (nonsense)	Syndromic intellectual disability	GLikely pathogenic
Select item 559505	NM_018413.6(CHST11):c.482_496del (p.Leu161_Asn165del)	CHST11	Deletion (inframe_deletion)	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits +5 more	GConflicting classifications of pathogenicity
Select item 492933	NM_005313.5(PDIA3):c.170G>A (p.Cys57Tyr)	PDIA3 (C57Y)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 430831	NM_000867.5(HTR2B):c.736A>T (p.Lys246Ter)	HTR2B, PSMD1 (K246* +1 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 430658	NM_005269.3(GLI1):c.820G>C (p.Gly274Arg)	GLI1 (G274R +2 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 430654	NM_001256789.3(CACNA1F):c.1933A>T (p.Ile645Phe)	CACNA1F (I656F +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A +1 more	GUncertain significance
Select item 430653	NM_177965.4(CFAP418):c.533C>T (p.Ala178Val)	CFAP418 (A178V +1 more)	Single nucleotide variant (missense variant)	CFAP418-related condition +1 more	GUncertain significance
Select item 430642	NM_032898.5(CEP19):c.182dup (p.Tyr61Ter)	CEP19 (Y61*)	Duplication (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 240965	NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys)	NPHP4 (E618K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 126304	NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Kidney disorder +10 more	GBenign/Likely benign
Select item 100586	NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)	MKKS (I339V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1326	NM_024296.5(CCDC28B):c.330C>T (p.Phe110=)	CCDC28B	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GUncertain significance; risk factor