Related gene-specific medical variations for Gene (Select 79600) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244265	NC_000012.11:g.(?_111057621)_(111057781_?)del	TCTN1	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 3061949	NM_001082538.3(TCTN1):c.1635+1G>A	TCTN1	Single nucleotide variant (splice donor variant)	Joubert syndrome 13	GLikely pathogenic
Select item 2937823	NM_001082538.3(TCTN1):c.220+11T>C	LOC130008755, TCTN1 (M1T)	Single nucleotide variant (missense variant +3 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2430064	NM_001082538.3(TCTN1):c.1105-3C>G	TCTN1	Single nucleotide variant (intron variant)	Developmental disorder	GUncertain significance
Select item 2085509	NM_001082538.3(TCTN1):c.220+15C>A	LOC130008755, TCTN1 (C2*)	Single nucleotide variant (nonsense +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2046392	NM_001082538.3(TCTN1):c.220+12dup	LOC130008755, TCTN1 (C2fs)	Duplication (frameshift variant +3 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1944594	NM_001082538.3(TCTN1):c.220+10A>C	LOC130008755, TCTN1 (M1L)	Single nucleotide variant (missense variant +3 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1252090	NM_001082538.3(TCTN1):c.1385dup (p.Trp463fs)	TCTN1 (W285fs +5 more)	Duplication (frameshift variant +1 more)	Joubert syndrome 13	GPathogenic
Select item 257397	NM_001082538.3(TCTN1):c.-8C>T	TCTN1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 257396	NM_001082538.3(TCTN1):c.-19C>A	TCTN1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 160096	NM_001082538.3(TCTN1):c.220+12G>C	LOC130008755, TCTN1 (M1I)	Single nucleotide variant (missense variant +3 more)	not specified +4 more	GBenign/Likely benign