ClinVar for MedGen (Select 331103) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805747	NM_000522.5(HOXA13):c.741dup (p.Gly248fs)	HOXA13, LOC107126288 (G248fs)	Duplication (frameshift variant)	Hand-foot-genital syndrome	GLikely pathogenic
Select item 1801486	NM_152739.4(HOXA9):c.304G>C (p.Ala102Pro)	HOXA9, HOXA10-HOXA9 +1 more (A102P)	Single nucleotide variant (missense variant)	Hand-foot-genital syndrome	GUncertain significance
Select item 1801485	NM_000522.5(HOXA13):c.869A>C (p.Tyr290Ser)	HOXA13, LOC107126288 (Y290S)	Single nucleotide variant (missense variant)	Hand-foot-genital syndrome	GLikely pathogenic
Select item 1438660	NM_000522.5(HOXA13):c.175C>T (p.Pro59Ser)	HOXA13, LOC107126288 (P59S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1361685	NM_000522.5(HOXA13):c.46G>A (p.Val16Ile)	HOXA13, LOC107126288 (V16I)	Single nucleotide variant (missense variant)	Guttmacher syndrome +2 more	GUncertain significance
Select item 1307668	NM_000522.5(HOXA13):c.263G>A (p.Arg88His)	HOXA13, LOC107126288 (R88H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1306688	NM_000522.5(HOXA13):c.527G>A (p.Ser176Asn)	HOXA13, LOC107126288 (S176N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1306139	NM_000522.5(HOXA13):c.499G>T (p.Ala167Ser)	HOXA13, LOC107126288 (A167S)	Single nucleotide variant (missense variant)	Guttmacher syndrome +2 more	GUncertain significance
Select item 1268863	NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr)	HOXA13, LOC107126288 (P166T)	Single nucleotide variant (missense variant)	Guttmacher syndrome +2 more	GBenign
Select item 1202627	NM_000522.5(HOXA13):c.360_377dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAla)	HOXA13, LOC107126288	Duplication (inframe_insertion)	Hand-foot-genital syndrome	GPathogenic/Likely pathogenic
Select item 735095	NM_000522.5(HOXA13):c.234T>A (p.Ala78=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	Guttmacher syndrome +2 more	GLikely benign
Select item 720370	NM_000522.5(HOXA13):c.480G>A (p.Ala160=)	HOXA13, LOC107126288	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 591815	NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	Guttmacher syndrome +2 more	GConflicting classifications of pathogenicity
Select item 591433	NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del)	HOXA13, LOC107126288	Deletion (inframe_deletion)	Guttmacher syndrome +3 more	GLikely benign
Select item 14896	NM_000522.5(HOXA13):c.355_406dup (p.Ser136fs)	HOXA13, LOC107126288 (S136fs)	Duplication (frameshift variant)	Hand-foot-genital syndrome	GPathogenic
Select item 14895	NM_000522.5(HOXA13):c.366_392dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAlaAla)	HOXA13, LOC107126288	Duplication (inframe_insertion)	Hand-foot-genital syndrome	GPathogenic
Select item 14892	NM_000522.5(HOXA13):c.1114A>C (p.Asn372His)	HOXA13 (N372H)	Single nucleotide variant (missense variant)	Hand-foot-genital syndrome	GPathogenic
Select item 14891	NM_000522.5(HOXA13):c.366_389dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAlaAlaAla)	HOXA13, LOC107126288	Duplication (inframe_insertion)	Hand-foot-genital syndrome	GPathogenic
Select item 14890	NM_000522.5(HOXA13):c.407C>A (p.Ser136Ter)	HOXA13, LOC107126288 (S136*)	Single nucleotide variant (nonsense)	Hand-foot-genital syndrome	GPathogenic
Select item 14889	NM_000522.5(HOXA13):c.1107G>A (p.Trp369Ter)	HOXA13 (W369*)	Single nucleotide variant (nonsense)	Hand-foot-genital syndrome	GPathogenic

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Items: 20