ClinVar for Gene (Select 1749) - ClinVar

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Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382755	NM_005221.6(DLX5):c.569C>T (p.Ser190Phe)	DLX5, LOC126860116 (S190F)	Single nucleotide variant (missense variant)	Split hand-foot malformation 1 with sensorineural hearing loss +1 more	GUncertain significance
Select item 3381995	NM_005221.6(DLX5):c.481T>C (p.Tyr161His)	DLX5 (Y161H)	Single nucleotide variant (missense variant)	Split hand-foot malformation 1 with sensorineural hearing loss +1 more	GLikely pathogenic
Select item 3381862	NM_005221.6(DLX5):c.868T>G (p.Ter290Glu)	DLX5	Single nucleotide variant (stop lost)	Split hand-foot malformation 1	GUncertain significance
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 3272335	NM_005221.6(DLX5):c.517T>G (p.Ser173Ala)	DLX5 (S173A)	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 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
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 3082964	NM_005221.6(DLX5):c.799A>G (p.Ile267Val)	DLX5 (I267V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3082962	NM_005221.6(DLX5):c.46G>C (p.Asp16His)	DLX5 (D16H)	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 3069044	NM_005221.6(DLX5):c.296G>T (p.Ser99Ile)	DLX5 (S99I)	Single nucleotide variant (missense variant)	not specified	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 3039274	NM_005221.6(DLX5):c.696G>C (p.Ser232=)	DLX5	Single nucleotide variant (synonymous variant)	DLX5-related disorder	GLikely benign
Select item 3030607	NM_005221.6(DLX5):c.541-1G>A	DLX5, LOC126860116	Single nucleotide variant (splice acceptor variant)	DLX5-related disorder	GLikely pathogenic
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 2980377	NM_005221.6(DLX5):c.608C>T (p.Pro203Leu)	DLX5, LOC126860116 (P203L)	Single nucleotide variant (missense variant)	not provided	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 2907777	NM_005221.6(DLX5):c.323A>G (p.Tyr108Cys)	DLX5 (Y108C)	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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2632626	NM_005221.6(DLX5):c.620_621dup (p.Ser208fs)	DLX5, LOC126860116 (S208fs)	Duplication (frameshift variant)	DLX5-related disorder	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 2591855	NM_005221.6(DLX5):c.266C>A (p.Ala89Asp)	DLX5 (A89D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2427215	NC_000007.13:g.(?_96318236)_(97493828_?)dup	ASNS, DLX5 +4 more	Duplication	not provided	GUncertain significance
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 2174670	NM_005221.6(DLX5):c.496G>C (p.Glu166Gln)	DLX5 (E166Q)	Single nucleotide variant (missense 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 2036668	NM_005221.6(DLX5):c.331G>A (p.Val111Ile)	DLX5 (V111I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990825	NM_005221.6(DLX5):c.355+11del	DLX5	Deletion (intron variant)	not provided	GBenign
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 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 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1807807	GRCh37/hg19 7q21.3(chr7:96264152-96860892)x1	DLX5, DLX6 +2 more	Copy number loss	not provided	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 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1459945	NC_000007.13:g.(?_95434042)_(96747209_?)del	C7orf76, DLX5 +5 more	Deletion	not provided	GPathogenic
Select item 1443159	NM_005221.6(DLX5):c.437del (p.Ser146fs)	DLX5 (S146fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 1258224	NC_000007.14:g.97025037G>A	DLX5	Single nucleotide variant	not provided	GBenign
Select item 1257370	NM_005221.6(DLX5):c.*163dup	DLX5	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1254290	NC_000007.14:g.97024926A>G	DLX5	Single nucleotide variant	not provided	GBenign
Select item 1241509	NM_005221.6(DLX5):c.540+91T>C	DLX5, LOC126860116	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235960	NM_005221.6(DLX5):c.356-304C>T	DLX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216128	NM_005221.6(DLX5):c.356-168T>G	DLX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1209083	NM_005221.6(DLX5):c.355+159G>A	DLX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186365	NM_005221.6(DLX5):c.540+227C>T	DLX5, LOC126860116	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 994869	NM_005221.6(DLX5):c.513C>T (p.Ala171=)	DLX5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 974791	GRCh37/hg19 7q21.3(chr7:95931567-97254397)x1	C7orf76, DLX5 +4 more	Copy number loss	Microcephaly +1 more	GLikely pathogenic
Select item 775251	NM_005221.6(DLX5):c.252C>G (p.Ala84=)	DLX5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 753623	NM_005221.6(DLX5):c.276T>C (p.Tyr92=)	DLX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 724064	NM_005221.6(DLX5):c.692G>A (p.Arg231His)	DLX5 (R231H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721021	NM_005221.6(DLX5):c.702C>T (p.Ser234=)	DLX5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720373	NM_005221.6(DLX5):c.258C>T (p.Ser86=)	DLX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713599	NM_005221.6(DLX5):c.541-10C>T	DLX5, LOC126860116	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395018	GRCh37/hg19 7q21.3(chr7:96066104-97428089)x3	C7orf76, DLX5 +4 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
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 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 152344	GRCh38/hg38 7q21.3(chr7:96924153-97157268)x1	DLX5, DLX6 +9 more	Copy number loss	See cases	GPathogenic
Select item 146112	GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1	ASB4, ASNS +61 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 91861	NM_005221.6(DLX5):c.558G>T (p.Gln186His)	DLX5, LOC126860116 (Q186H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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

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Links from Gene

Items: 77