C2676788[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192540	NM_001378615.1(CC2D2A):c.40-122A>C	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +2 more	GBenign
Select item 126233	NM_001378615.1(CC2D2A):c.247+26A>G	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +3 more	GBenign
Select item 126230	NM_001378615.1(CC2D2A):c.1764+45T>G	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +3 more	GBenign
Select item 126231	NM_001378615.1(CC2D2A):c.1765-24A>G	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +3 more	GBenign
Select item 126232	NM_001378615.1(CC2D2A):c.2182-24C>T	CC2D2A	Single nucleotide variant (intron variant)	Meckel syndrome, type 6 +3 more	GBenign
Select item 126235	NM_001378615.1(CC2D2A):c.2830-38G>T	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +3 more	GBenign
Select item 126236	NM_001378615.1(CC2D2A):c.3183-8T>C	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +5 more	GBenign
Select item 126237	NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GBenign
Select item 126239	NM_001378615.1(CC2D2A):c.3288+41A>C	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +3 more	GBenign
Select item 1192622	NM_001378615.1(CC2D2A):c.3595-55C>G	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +2 more	GBenign
Select item 126241	NM_001378615.1(CC2D2A):c.3595-22C>T	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +3 more	GBenign
Select item 126243	NM_001378615.1(CC2D2A):c.4065+28A>T	CC2D2A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 257382	NM_001378615.1(CC2D2A):c.*21G>C	CC2D2A	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GBenign