DLX5[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1257370	NM_005221.6(DLX5):c.*163dup	DLX5	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 3370334	NM_005221.6(DLX5):c.839del (p.Pro280fs)	DLX5 (P280fs)	Deletion (frameshift variant)	Split hand-foot malformation 1	GUncertain significance
Select item 3082965	NM_005221.6(DLX5):c.824G>T (p.Gly275Val)	DLX5 (G275V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2965961	NM_005221.6(DLX5):c.814C>T (p.Pro272Ser)	DLX5 (P272S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3082964	NM_005221.6(DLX5):c.799A>G (p.Ile267Val)	DLX5 (I267V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1351701	NM_005221.6(DLX5):c.712C>A (p.His238Asn)	DLX5 (H238N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1212745	NM_005221.6(DLX5):c.702C>A (p.Ser234Arg)	DLX5 (S234R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 721021	NM_005221.6(DLX5):c.702C>T (p.Ser234=)	DLX5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3039274	NM_005221.6(DLX5):c.696G>C (p.Ser232=)	DLX5	Single nucleotide variant (synonymous variant)	DLX5-related disorder	GLikely benign
Select item 724064	NM_005221.6(DLX5):c.692G>A (p.Arg231His)	DLX5 (R231H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2991335	NM_005221.6(DLX5):c.669G>T (p.Val223=)	DLX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990703	NM_005221.6(DLX5):c.540+20G>A	DLX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 30021	NM_005221.6(DLX5):c.533A>C (p.Gln178Pro)	DLX5 (Q178P)	Single nucleotide variant (missense variant)	Split hand-foot malformation 1 with sensorineural hearing loss	GPathogenic
Select item 3272335	NM_005221.6(DLX5):c.517T>G (p.Ser173Ala)	DLX5 (S173A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 994869	NM_005221.6(DLX5):c.513C>T (p.Ala171=)	DLX5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2502307	NM_005221.6(DLX5):c.509T>C (p.Leu170Pro)	DLX5 (L170P)	Single nucleotide variant (missense variant)	Split hand-foot malformation 1	GLikely pathogenic
Select item 2174670	NM_005221.6(DLX5):c.496G>C (p.Glu166Gln)	DLX5 (E166Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443159	NM_005221.6(DLX5):c.437del (p.Ser146fs)	DLX5 (S146fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2635143	NM_005221.6(DLX5):c.376G>T (p.Glu126Ter)	DLX5 (E126*)	Single nucleotide variant (nonsense)	DLX5-related disorder	GLikely pathogenic
Select item 1216128	NM_005221.6(DLX5):c.356-168T>G	DLX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235960	NM_005221.6(DLX5):c.356-304C>T	DLX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209083	NM_005221.6(DLX5):c.355+159G>A	DLX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990825	NM_005221.6(DLX5):c.355+11del	DLX5	Deletion (intron variant)	not provided	GBenign
Select item 2036668	NM_005221.6(DLX5):c.331G>A (p.Val111Ile)	DLX5 (V111I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907777	NM_005221.6(DLX5):c.323A>G (p.Tyr108Cys)	DLX5 (Y108C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3044657	NM_005221.6(DLX5):c.312C>T (p.Tyr104=)	DLX5	Single nucleotide variant (synonymous variant)	DLX5-related disorder	GLikely benign
Select item 3069044	NM_005221.6(DLX5):c.296G>T (p.Ser99Ile)	DLX5 (S99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753623	NM_005221.6(DLX5):c.276T>C (p.Tyr92=)	DLX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591855	NM_005221.6(DLX5):c.266C>A (p.Ala89Asp)	DLX5 (A89D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720373	NM_005221.6(DLX5):c.258C>T (p.Ser86=)	DLX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775251	NM_005221.6(DLX5):c.252C>G (p.Ala84=)	DLX5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731436	NM_005221.6(DLX5):c.239T>C (p.Val80Ala)	DLX5 (V80A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2222926	NM_005221.6(DLX5):c.187T>A (p.Ser63Thr)	DLX5 (S63T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082960	NM_005221.6(DLX5):c.185C>T (p.Thr62Ile)	DLX5 (T62I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601250	NM_005221.6(DLX5):c.175T>C (p.Cys59Arg)	DLX5 (C59R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253462	NM_005221.6(DLX5):c.158del (p.Gly53fs)	DLX5 (G53fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1934548	NM_005221.6(DLX5):c.130G>T (p.Asp44Tyr)	DLX5 (D44Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 156469	NM_005221.6(DLX5):c.115G>T (p.Glu39Ter)	DLX5 (E39*)	Single nucleotide variant (nonsense)	Split hand-foot malformation 1	GPathogenic
Select item 1712882	NM_005221.6(DLX5):c.89C>T (p.Pro30Leu)	DLX5 (P30L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3082962	NM_005221.6(DLX5):c.46G>C (p.Asp16His)	DLX5 (D16H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1254290	NC_000007.14:g.97024926A>G	DLX5	Single nucleotide variant	not provided	GBenign
Select item 1258224	NC_000007.14:g.97025037G>A	DLX5	Single nucleotide variant	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 42