ClinVar for Gene (Select 257) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069203	NM_006492.3(ALX3):c.364C>T (p.Gln122Ter)	ALX3 (Q122*)	Single nucleotide variant (nonsense)	Frontorhiny	GPathogenic
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 3043120	NM_006492.3(ALX3):c.975C>T (p.Leu325=)	ALX3	Single nucleotide variant (synonymous variant)	ALX3-related condition	GLikely benign
Select item 2973677	NM_006492.3(ALX3):c.393C>G (p.Ser131Arg)	ALX3 (S131R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832151	NM_006492.3(ALX3):c.181C>G (p.Leu61Val)	ALX3 (L61V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750794	NM_006492.3(ALX3):c.414G>A (p.Pro138=)	ALX3	Single nucleotide variant (synonymous variant)	ALX3-related condition +1 more	GBenign/Likely benign
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2617863	NM_006492.3(ALX3):c.993G>C (p.Lys331Asn)	ALX3 (K331N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614799	NM_006492.3(ALX3):c.193G>A (p.Ala65Thr)	ALX3 (A65T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610787	NM_006492.3(ALX3):c.109C>T (p.His37Tyr)	ALX3 (H37Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569172	NM_006492.3(ALX3):c.662G>A (p.Arg221Gln)	ALX3 (R221Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533008	NM_006492.3(ALX3):c.127C>T (p.Pro43Ser)	ALX3 (P43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530751	NM_006492.3(ALX3):c.1004C>T (p.Pro335Leu)	ALX3 (P335L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529587	NM_006492.3(ALX3):c.111C>G (p.His37Gln)	ALX3 (H37Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515271	NM_006492.3(ALX3):c.998A>C (p.Lys333Thr)	ALX3 (K333T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477564	NM_006492.3(ALX3):c.92C>G (p.Thr31Ser)	ALX3 (T31S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2403399	NM_006492.3(ALX3):c.166C>T (p.Pro56Ser)	ALX3 (P56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399276	NM_006492.3(ALX3):c.20C>T (p.Ala7Val)	ALX3 (A7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379188	NM_006492.3(ALX3):c.232G>C (p.Gly78Arg)	ALX3 (G78R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349135	NM_006492.3(ALX3):c.346G>C (p.Asp116His)	ALX3 (D116H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308995	NM_006492.3(ALX3):c.406C>G (p.Leu136Val)	ALX3 (L136V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307326	NM_006492.3(ALX3):c.349G>A (p.Gly117Arg)	ALX3 (G117R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301783	NM_006492.3(ALX3):c.232G>A (p.Gly78Ser)	ALX3 (G78S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298540	NM_006492.3(ALX3):c.683A>G (p.Tyr228Cys)	ALX3 (Y228C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288257	NM_006492.3(ALX3):c.182T>A (p.Leu61His)	ALX3 (L61H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257926	NM_006492.3(ALX3):c.694G>A (p.Val232Met)	ALX3 (V232M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233186	NM_006492.3(ALX3):c.778C>T (p.Leu260Phe)	ALX3 (L260F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230358	NM_006492.3(ALX3):c.191C>T (p.Pro64Leu)	ALX3 (P64L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229322	NM_006492.3(ALX3):c.116A>T (p.His39Leu)	ALX3 (H39L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227768	NM_006492.3(ALX3):c.862C>T (p.Pro288Ser)	ALX3 (P288S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2146917	NM_006492.3(ALX3):c.592C>T (p.Gln198Ter)	ALX3 (Q198*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2072175	NM_006492.3(ALX3):c.155C>T (p.Pro52Leu)	ALX3 (P52L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2056739	NM_006492.3(ALX3):c.959A>G (p.Tyr320Cys)	ALX3 (Y320C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1801006	NM_006492.3(ALX3):c.556C>G (p.Leu186Val)	ALX3 (L186V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1459387	NC_000001.10:g.(?_110603355)_(111147404_?)del	ALX3, KCNA10 +8 more	Deletion	Developmental and epileptic encephalopathy, 32	GPathogenic
Select item 1296900	NM_006492.3(ALX3):c.277+231A>G	ALX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274786	NM_006492.3(ALX3):c.277+296T>C	ALX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253184	NM_006492.3(ALX3):c.594+190T>C	ALX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249755	NM_006492.3(ALX3):c.594+263G>C	ALX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239551	NM_006492.3(ALX3):c.68_69insCCTGCCTGGACACCACGGAGGAAGCACC	ALX3	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1188875	NM_006492.3(ALX3):c.277+33C>T	ALX3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 806184	NM_006492.3(ALX3):c.284AGA[1] (p.Lys96del)	ALX3 (K96del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 749559	NM_006492.3(ALX3):c.278-6T>C	ALX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 746657	NM_006492.3(ALX3):c.642T>C (p.Tyr214=)	ALX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742992	NM_006492.3(ALX3):c.438G>A (p.Leu146=)	ALX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742297	NM_006492.3(ALX3):c.84G>A (p.Pro28=)	ALX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741075	NM_006492.3(ALX3):c.480C>T (p.Phe160=)	ALX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738448	NM_006492.3(ALX3):c.876G>A (p.Ala292=)	ALX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729295	NM_006492.3(ALX3):c.204C>T (p.Pro68=)	ALX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711287	NM_006492.3(ALX3):c.915C>T (p.Pro305=)	ALX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 559851	NM_006492.3(ALX3):c.736_737del (p.Leu246fs)	ALX3 (L246fs)	Deletion (frameshift variant)	Frontorhiny	GLikely pathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 259986	NM_006492.3(ALX3):c.627G>A (p.Arg209=)	ALX3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 210134	NM_006492.3(ALX3):c.748C>G (p.Pro250Ala)	ALX3 (P250A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 4648	NM_006492.3(ALX3):c.586C>T (p.Arg196Trp)	ALX3 (R196W)	Single nucleotide variant (missense variant)	Frontorhiny	GPathogenic
Select item 4647	NM_006492.3(ALX3):c.578_581del (p.Thr193fs)	ALX3 (T193fs)	Microsatellite (frameshift variant)	Frontorhiny	GPathogenic
Select item 4646	NM_006492.3(ALX3):c.543T>A (p.Tyr181Ter)	ALX3 (Y181*)	Single nucleotide variant (nonsense)	Frontorhiny	GPathogenic
Select item 4645	NM_006492.3(ALX3):c.547C>T (p.Arg183Trp)	ALX3 (R183W)	Single nucleotide variant (missense variant)	Frontorhiny	GPathogenic
Select item 4644	NM_006492.3(ALX3):c.502C>G (p.Leu168Val)	ALX3 (L168V)	Single nucleotide variant (missense variant)	Frontorhiny	GPathogenic
Select item 4643	NM_006492.3(ALX3):c.608A>G (p.Asn203Ser)	ALX3 (N203S)	Single nucleotide variant (missense variant)	Frontorhiny	GPathogenic
Select item 4642	NM_006492.3(ALX3):c.595-2A>T	ALX3	Single nucleotide variant (splice acceptor variant)	Frontorhiny	GPathogenic

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Links from Gene

Items: 76