ClinVar for MedGen (Select 1738652) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256687	NM_017714.3(TASP1):c.1024G>A (p.Gly342Arg)	TASP1 (G211R +2 more)	Single nucleotide variant (missense variant +1 more)	Suleiman-El-Hattab syndrome	GUncertain significance
Select item 3256682	NM_017714.3(TASP1):c.459C>T (p.Gly153=)	TASP1	Single nucleotide variant (synonymous variant +2 more)	Suleiman-El-Hattab syndrome	GUncertain significance
Select item 2442162	NM_017714.3(TASP1):c.875-10G>A	TASP1	Single nucleotide variant (intron variant)	Suleiman-El-Hattab syndrome	GUncertain significance
Select item 2436955	NM_017714.3(TASP1):c.508G>A (p.Ala170Thr)	TASP1 (A170T +1 more)	Single nucleotide variant (missense variant +2 more)	Suleiman-El-Hattab syndrome	GUncertain significance
Select item 1992428	NM_017714.3(TASP1):c.404-2A>G	TASP1	Single nucleotide variant (intron variant +1 more)	Suleiman-El-Hattab syndrome	GLikely pathogenic
Select item 1878237	NM_017714.3(TASP1):c.675+1G>T	TASP1	Single nucleotide variant (intron variant +1 more)	Suleiman-El-Hattab syndrome	GLikely pathogenic
Select item 1684653	Single allele	AFF2, FRAXE +1 more	Deletion	Suleiman-El-Hattab syndrome	GPathogenic
Select item 1683690	NM_017714.3(TASP1):c.977A>G (p.Lys326Arg)	TASP1 (K195R +2 more)	Single nucleotide variant (missense variant +1 more)	Suleiman-El-Hattab syndrome	GUncertain significance
Select item 1210128	NM_017714.3(TASP1):c.360G>T (p.Met120Ile)	TASP1 (M120I +1 more)	Single nucleotide variant (missense variant +2 more)	Suleiman-El-Hattab syndrome	GUncertain significance
Select item 633774	NM_017714.3(TASP1):c.701C>T (p.Thr234Met)	TASP1 (T234M +2 more)	Single nucleotide variant (missense variant +1 more)	Suleiman-El-Hattab syndrome	GLikely pathogenic
Select item 633715	NC_000020.10:g.13448380_13597783del	TASP1, LOC125384585	Deletion	Developmental delay +2 more	GLikely pathogenic
Select item 633609	NM_017714.3(TASP1):c.199C>T (p.Arg67Ter)	TASP1 (R67*)	Single nucleotide variant (nonsense +2 more)	Global developmental delay	GPathogenic