C3836857[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126291	NM_024809.5(TCTN2):c.83-4C>T	TCTN2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GBenign
Select item 212387	NM_024809.5(TCTN2):c.134dup (p.Val46fs)	TCTN2 (V46fs)	Duplication (frameshift variant)	Meckel syndrome, type 8	GPathogenic
Select item 126287	NM_024809.5(TCTN2):c.225C>T (p.Asn75=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GBenign
Select item 126288	NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)	TCTN2 (R200Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 126289	NM_024809.5(TCTN2):c.654C>T (p.Leu218=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GBenign/Likely benign
Select item 212388	NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)	TCTN2 (T223M +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 8 +6 more	GUncertain significance
Select item 212389	NM_024809.5(TCTN2):c.703del (p.Leu235fs)	TCTN2 (L234fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 24 +5 more	GPathogenic/Likely pathogenic
Select item 198261	NM_024809.5(TCTN2):c.720C>G (p.Pro240=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 198593	NM_024809.5(TCTN2):c.810C>T (p.Asp270=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 8 +5 more	GConflicting classifications of pathogenicity
Select item 126292	NM_024809.5(TCTN2):c.873A>G (p.Ala291=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GBenign
Select item 126294	NM_024809.5(TCTN2):c.891+7G>A	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +4 more	GBenign
Select item 126293	NM_024809.5(TCTN2):c.891+22T>C	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +3 more	GBenign
Select item 126295	NM_024809.5(TCTN2):c.898C>T (p.Leu300=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GBenign/Likely benign
Select item 126282	NM_024809.5(TCTN2):c.1099+19T>C	TCTN2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GBenign
Select item 126283	NM_024809.5(TCTN2):c.1128T>C (p.Pro376=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +4 more	GBenign
Select item 126285	NM_024809.5(TCTN2):c.1393+7C>T	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +4 more	GBenign
Select item 126286	NM_024809.5(TCTN2):c.2041T>C (p.Leu681=)	ATP6V0A2, TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +5 more	GBenign/Likely benign