Related gene-specific medical variations for Gene (Select 1750) - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350426	NM_005222.4(DLX6):c.246G>C (p.Ala82=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	DLX6-related disorder	GLikely benign
Select item 3350391	NM_005222.4(DLX6):c.237G>C (p.Ala79=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	DLX6-related disorder	GLikely benign
Select item 3348256	NM_005222.4(DLX6):c.240G>T (p.Ala80=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	DLX6-related disorder	GLikely benign
Select item 3272336	NM_005222.4(DLX6):c.743C>T (p.Ser248Leu)	DLX6, DLX6-AS1 (S248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082971	NM_005222.4(DLX6):c.744G>A (p.Ser248=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3082970	NM_005222.4(DLX6):c.430G>C (p.Asp144His)	DLX6, DLX6-AS1 (D144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082969	NM_005222.4(DLX6):c.37G>A (p.Gly13Ser)	DLX6, DLX6-AS1 (G13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082968	NM_005222.4(DLX6):c.320C>T (p.Ser107Phe)	DLX6, DLX6-AS1 (S107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082967	NM_005222.4(DLX6):c.261C>G (p.His87Gln)	DLX6, DLX6-AS1 (H87Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082966	NM_005222.4(DLX6):c.126G>T (p.Gln42His)	DLX6, DLX6-AS1 (Q42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050908	NM_005222.4(DLX6):c.333C>G (p.Arg111=)	DLX6, DLX6-AS1 +1 more	Single nucleotide variant (synonymous variant)	DLX6-related disorder	GLikely benign
Select item 3041468	NM_005222.4(DLX6):c.243A>G (p.Ala81=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	DLX6-related disorder	GLikely benign
Select item 3036242	NM_005222.4(DLX6):c.291C>T (p.Gly97=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	DLX6-related disorder	GLikely benign
Select item 2961973	NM_005222.4(DLX6):c.245C>T (p.Ala82Val)	DLX6, DLX6-AS1 (A82V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957975	NM_005222.4(DLX6):c.103C>G (p.Gln35Glu)	DLX6, DLX6-AS1 (Q35E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915783	NM_005222.4(DLX6):c.75GCA[12] (p.Gln44_Pro45insGlnGlnGlnGln)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2911626	NM_005222.4(DLX6):c.750G>A (p.Ala250=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909528	NM_005222.4(DLX6):c.276_284dup (p.His94_His95insGlnHisHis)	DLX6, DLX6-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2906948	NM_005222.4(DLX6):c.858G>A (p.Thr286=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905420	NM_005222.4(DLX6):c.720C>T (p.Gly240=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899579	NM_005222.4(DLX6):c.258CCA[3] (p.His89_His91del)	DLX6, DLX6-AS1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2898853	NM_005222.4(DLX6):c.706G>A (p.Asp236Asn)	DLX6, DLX6-AS1 (D236N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894545	NM_005222.4(DLX6):c.99_110dup (p.Gln44_Pro45insGlnGlnGlnGln)	DLX6, DLX6-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2887892	NM_005222.4(DLX6):c.102GCA[10] (p.Gln44_Pro45insGlnGlnGln)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2887344	NM_005222.4(DLX6):c.136C>G (p.Pro46Ala)	DLX6, DLX6-AS1 (P46A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883308	NM_005222.4(DLX6):c.189C>T (p.Ala63=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867465	NM_005222.4(DLX6):c.81GCAGCAGCAGCAGCAGCAACAGCA[5] (p.Gln44_Pro45insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2864969	NM_005222.4(DLX6):c.631-16G>A	DLX6, DLX6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789215	NM_005222.4(DLX6):c.437-15A>T	DLX6, DLX6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786374	NM_005222.4(DLX6):c.342C>G (p.Ala114=)	DLX6, DLX6-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722038	NM_005222.4(DLX6):c.705C>T (p.Ser235=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721208	NM_005222.4(DLX6):c.841T>A (p.Ser281Thr)	DLX6, DLX6-AS1 (S281T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2720424	NM_005222.4(DLX6):c.75GCA[10] (p.Gln44_Pro45insGlnGln)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2719973	NM_005222.4(DLX6):c.630+9C>T	DLX6, DLX6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697545	NM_005222.4(DLX6):c.99_119dup (p.Gln44_Pro45insGlnGlnGlnGlnGlnGlnGln)	DLX6, DLX6-AS1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2657694	NM_005222.4(DLX6):c.129A>G (p.Gln43=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657693	NM_005222.4(DLX6):c.102G>A (p.Gln34=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2372673	NM_005222.4(DLX6):c.208C>T (p.Pro70Ser)	DLX6, DLX6-AS1 (P70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301836	NM_005222.4(DLX6):c.684G>C (p.Gln228His)	DLX6, DLX6-AS1 (Q228H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292433	NM_005222.4(DLX6):c.407C>A (p.Ala136Glu)	DLX6, DLX6-AS1 +1 more (A136E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253883	NM_005222.4(DLX6):c.708C>A (p.Asp236Glu)	DLX6, DLX6-AS1 (D236E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2175385	NM_005222.4(DLX6):c.295C>T (p.Pro99Ser)	DLX6, DLX6-AS1 (P99S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064954	NM_005222.4(DLX6):c.228GGC[6] (p.Ala83_Gly84insAla)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2056334	NM_005222.4(DLX6):c.228GGC[7] (p.Ala83_Gly84insAlaAla)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2053894	NM_005222.4(DLX6):c.102GCA[8] (p.Gln44_Pro45insGln)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2046086	NM_005222.4(DLX6):c.99A>G (p.Gln33=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041446	NM_005222.4(DLX6):c.93G>A (p.Gln31=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041393	NM_005222.4(DLX6):c.75GCA[6] (p.Gln43_Gln44del)	DLX6, DLX6-AS1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1982646	NM_005222.4(DLX6):c.75GCA[13] (p.Gln44_Pro45insGlnGlnGlnGlnGln)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1972465	NM_005222.4(DLX6):c.104_131delinsC (p.Gln35_Gln44delinsPro)	DLX6, DLX6-AS1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1918024	NM_005222.4(DLX6):c.258CCA[2] (p.His88_His91del)	DLX6, DLX6-AS1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1662165	NM_005222.4(DLX6):c.51C>T (p.Ser17=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1660081	NM_005222.4(DLX6):c.75GCA[7] (p.Gln44del)	DLX6, DLX6-AS1 (Q44del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1600917	NM_005222.4(DLX6):c.134CGC[8] (p.Pro53del)	DLX6, DLX6-AS1 (P53del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1595843	NM_005222.4(DLX6):c.134CGC[5] (p.Pro50_Pro53del)	DLX6, DLX6-AS1	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1586929	NM_005222.4(DLX6):c.123A>G (p.Gln41=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1582947	NM_005222.4(DLX6):c.436+16G>A	DLX6, DLX6-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1564576	NM_005222.4(DLX6):c.339C>T (p.Leu113=)	DLX6, DLX6-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1561703	NM_005222.4(DLX6):c.105G>A (p.Gln35=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557693	NM_005222.4(DLX6):c.779C>T (p.Ser260Leu)	DLX6, DLX6-AS1 (S260L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1551228	NM_005222.4(DLX6):c.846A>G (p.Pro282=)	DLX6-AS1, DLX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1523838	NM_005222.4(DLX6):c.134CGC[7] (p.Pro52_Pro53del)	DLX6, DLX6-AS1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1505793	NM_005222.4(DLX6):c.156GCCGCA[1] (p.Gln54_Pro55del)	DLX6, DLX6-AS1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1501223	NM_005222.4(DLX6):c.99_113del (p.Gln40_Gln44del)	DLX6, DLX6-AS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1498979	NM_005222.4(DLX6):c.99_119del (p.Gln38_Gln44del)	DLX6, DLX6-AS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1476323	NM_005222.4(DLX6):c.75GCA[9] (p.Gln44dup)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1463454	NM_005222.4(DLX6):c.81GCAGCAGCAGCAGCAGCAACAGCA[1] (p.Gln37_Gln44del)	DLX6, DLX6-AS1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1446643	NM_005222.4(DLX6):c.749C>T (p.Ala250Val)	DLX6, DLX6-AS1 (A250V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442762	NM_005222.4(DLX6):c.258CCA[8] (p.His90_His91dup)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1423864	NM_005222.4(DLX6):c.258CCA[5] (p.His91del)	DLX6, DLX6-AS1 (H91del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1420860	NM_005222.4(DLX6):c.134CGC[14] (p.Pro49_Pro53dup)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1398617	NM_005222.4(DLX6):c.133_134insAACAGCCGC (p.Gln44_Pro45insGlnGlnPro)	DLX6, DLX6-AS1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1388548	NM_005222.4(DLX6):c.725C>T (p.Ala242Val)	DLX6, DLX6-AS1 (A242V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385415	NM_005222.4(DLX6):c.134CGC[11] (p.Pro52_Pro53dup)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1373278	NM_005222.4(DLX6):c.75GCA[5] (p.Gln42_Gln44del)	DLX6, DLX6-AS1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1373075	NM_005222.4(DLX6):c.350_352dup (p.Pro117_Tyr118insSer)	DLX6, DLX6-AS1 +1 more	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1365121	NM_005222.4(DLX6):c.99_116del (p.Gln39_Gln44del)	DLX6, DLX6-AS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1353901	NM_005222.4(DLX6):c.134CGC[12] (p.Pro51_Pro53dup)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1350164	NM_005222.4(DLX6):c.722C>T (p.Ser241Leu)	DLX6, DLX6-AS1 (S241L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301676	NM_005222.4(DLX6):c.81GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln37_Gln44dup)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1236660	NM_005222.4(DLX6):c.134CGC[10] (p.Pro53dup)	DLX6, DLX6-AS1	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1231781	NM_005222.4(DLX6):c.*148TC[9]	DLX6, DLX6-AS1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1231769	NM_005222.4(DLX6):c.*9A>G	DLX6, DLX6-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1225540	NM_005222.4(DLX6):c.437-85A>C	DLX6, DLX6-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785871	NM_005222.4(DLX6):c.534G>A (p.Gln178=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774129	NM_005222.4(DLX6):c.134CGC[6] (p.Pro51_Pro53del)	DLX6, DLX6-AS1	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 734073	NM_005222.4(DLX6):c.780G>C (p.Ser260=)	DLX6, DLX6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Links from Gene

Items: 87