C2676788[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194715	NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)	CC2D2A (E613K +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +6 more	GConflicting classifications of pathogenicity
Select item 194820	NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)	CC2D2A (R680H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +5 more	GConflicting classifications of pathogenicity
Select item 216491	NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)	CC2D2A (E1016K +1 more)	Single nucleotide variant (missense variant)	COACH syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 217602	NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)	CC2D2A (R1019* +1 more)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 1028538	NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr)	CC2D2A (P1054T +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +1 more	GUncertain significance
Select item 743	NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)	CC2D2A (P1122S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 917927	NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)	CC2D2A (W1462R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +2 more	GPathogenic/Likely pathogenic
Select item 238282	NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)	CC2D2A (R1618C +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +5 more	GUncertain significance