"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TBC1D7-LOC - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2656241	NM_030948.6(PHACTR1):c.1392-4G>A	PHACTR1, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1695149	NM_030948.6(PHACTR1):c.1510-2265_1510-2264del	LOC100130357, PHACTR1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 2656242	NM_030948.6(PHACTR1):c.1636A>T (p.Thr546Ser)	LOC100130357, PHACTR1 +1 more (T454S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024709	NM_030948.6(PHACTR1):c.1727+24dup	LOC100130357, PHACTR1 +1 more (L493fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 809878	NM_016495.6(TBC1D7):c.788del (p.Leu263fs)	TBC1D7, TBC1D7-LOC100130357 (L236fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1186436	NM_016495.6(TBC1D7):c.528G>A (p.Ala176=)	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708894	NM_016495.6(TBC1D7):c.467G>A (p.Arg156Gln)	TBC1D7, TBC1D7-LOC100130357 (R129Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 2656243	NM_016495.6(TBC1D7):c.447C>T (p.Val149=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1208683	NM_016495.6(TBC1D7):c.446T>C (p.Val149Ala)	TBC1D7, TBC1D7-LOC100130357 (V122A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 252706	NM_016495.6(TBC1D7):c.413C>A (p.Ala138Asp)	TBC1D7, TBC1D7-LOC100130357 (A138D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
Select item 1254892	NM_016495.6(TBC1D7):c.267T>C (p.Leu89=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +1 more)	TBC1D7-related condition +1 more	GLikely benign
Select item 809879	NM_016495.6(TBC1D7):c.242G>T (p.Arg81Leu)	TBC1D7, TBC1D7-LOC100130357 (R81L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance