Related gene-specific medical variations for Gene (Select 3239) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432529	NM_000523.4(HOXD13):c.922C>T (p.Arg308Cys)	HOXD13 (R308C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324539	NM_000523.4(HOXD13):c.203_204insA (p.Ala69fs)	HOXD13 (A69fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 1323061	NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup)	HOXD13	Duplication (inframe_insertion)	Syndactyly type 5 +4 more	GPathogenic
Select item 930707	NM_000523.4(HOXD13):c.709G>C (p.Gly237Arg)	HOXD13 (G237R)	Single nucleotide variant (missense variant)	Synpolydactyly type 1	GUncertain significance
Select item 591632	NM_000523.4(HOXD13):c.575_577del (p.Phe192del)	HOXD13 (F192del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 591289	NM_000523.4(HOXD13):c.560C>G (p.Ala187Gly)	HOXD13 (A187G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591240	NM_000523.4(HOXD13):c.674C>G (p.Ser225Cys)	HOXD13 (S225C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591237	NM_000523.4(HOXD13):c.168GGC[8] (p.Ala69_Ala71dup)	HOXD13	Microsatellite (inframe_insertion)	not provided	GUncertain significance

ClinVar