Related gene-specific medical variations for Gene (Select 1749) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3082963	NM_005221.6(DLX5):c.587T>G (p.Met196Arg)	DLX5, LOC126860116 (M196R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030607	NM_005221.6(DLX5):c.541-1G>A	DLX5, LOC126860116	Single nucleotide variant (splice acceptor variant)	DLX5-related disorder	GUncertain significance
Select item 2980377	NM_005221.6(DLX5):c.608C>T (p.Pro203Leu)	DLX5, LOC126860116 (P203L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902101	NM_005221.6(DLX5):c.580A>C (p.Lys194Gln)	DLX5, LOC126860116 (K194Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2632626	NM_005221.6(DLX5):c.620_621dup (p.Ser208fs)	DLX5, LOC126860116 (S208fs)	Duplication (frameshift variant)	DLX5-related disorder	GUncertain significance
Select item 2575561	NM_005221.6(DLX5):c.570del (p.Lys191fs)	DLX5, LOC126860116 (K191fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2079506	NM_005221.6(DLX5):c.549C>T (p.Ile183=)	DLX5, LOC126860116	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970708	NM_005221.6(DLX5):c.607C>A (p.Pro203Thr)	DLX5, LOC126860116 (P203T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1241509	NM_005221.6(DLX5):c.540+91T>C	DLX5, LOC126860116	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186365	NM_005221.6(DLX5):c.540+227C>T	DLX5, LOC126860116	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 994869	NM_005221.6(DLX5):c.513C>T (p.Ala171=)	DLX5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 713599	NM_005221.6(DLX5):c.541-10C>T	DLX5, LOC126860116	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 91861	NM_005221.6(DLX5):c.558G>T (p.Gln186His)	DLX5, LOC126860116 (Q186H)	Single nucleotide variant (missense variant)	Split hand-foot malformation 1 +1 more	GPathogenic