ClinVar for Gene (Select 220108) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277133	NM_001242312.2(FAM124A):c.1342G>A (p.Glu448Lys)	FAM124A (E484K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277132	NM_001242312.2(FAM124A):c.899G>A (p.Arg300His)	FAM124A (R300H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277131	NM_001242312.2(FAM124A):c.272G>A (p.Arg91Gln)	FAM124A (R91Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148943	GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1	ALG11, ARL11 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3091766	NM_001242312.2(FAM124A):c.791G>A (p.Arg264His)	FAM124A (R264H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091764	NM_001242312.2(FAM124A):c.460G>A (p.Ala154Thr)	FAM124A (A154T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091763	NM_001242312.2(FAM124A):c.327G>C (p.Glu109Asp)	FAM124A (E145D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091762	NM_001242312.2(FAM124A):c.208G>A (p.Ala70Thr)	FAM124A (A70T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091760	NM_001242312.2(FAM124A):c.997A>G (p.Thr333Ala)	FAM124A (T369A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	CCDC70, CCNA1 +119 more	Copy number loss	not provided	GPathogenic
Select item 2685465	GRCh37/hg19 13q14.3(chr13:51768837-54900165)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	GUncertain significance
Select item 2623447	NM_001242312.2(FAM124A):c.12G>T (p.Lys4Asn)	FAM124A (K4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619403	NM_001242312.2(FAM124A):c.1006C>T (p.Pro336Ser)	FAM124A (P372S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617655	NM_001242312.2(FAM124A):c.898C>T (p.Arg300Cys)	FAM124A (R336C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609075	NM_001242312.2(FAM124A):c.1484G>A (p.Arg495His)	FAM124A (R495H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604488	NM_001242312.2(FAM124A):c.873A>C (p.Arg291Ser)	FAM124A (R291S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540310	NM_001242312.2(FAM124A):c.400G>A (p.Glu134Lys)	FAM124A (E134K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524655	NM_001242312.2(FAM124A):c.1520C>T (p.Thr507Ile)	FAM124A (T543I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522277	NM_001242312.2(FAM124A):c.590G>T (p.Ser197Ile)	FAM124A (S197I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509547	NM_001242312.2(FAM124A):c.1319C>T (p.Thr440Ile)	FAM124A (T440I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493360	NM_001242312.2(FAM124A):c.368T>C (p.Leu123Pro)	FAM124A (L159P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422253	NC_000013.10:g.(?_51484213)_(52602726_?)dup	ALG11, ATP7B +8 more	Duplication	Wilson disease	GUncertain significance
Select item 2409360	NM_001242312.2(FAM124A):c.125A>G (p.Gln42Arg)	FAM124A (Q78R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391548	NM_001242312.2(FAM124A):c.1103C>T (p.Thr368Met)	FAM124A (T404M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384466	NM_001242312.2(FAM124A):c.556A>G (p.Ser186Gly)	FAM124A (S186G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382519	NM_001242312.2(FAM124A):c.329A>T (p.Glu110Val)	FAM124A (E110V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355262	NM_001242312.2(FAM124A):c.653T>C (p.Ile218Thr)	FAM124A (I218T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340579	NM_001242312.2(FAM124A):c.1636A>G (p.Ile546Val)	FAM124A (I546V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326601	NM_001242312.2(FAM124A):c.643G>A (p.Asp215Asn)	FAM124A (D251N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311791	NM_001242312.2(FAM124A):c.725G>A (p.Arg242Gln)	FAM124A (R242Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305442	NM_001242312.2(FAM124A):c.20G>T (p.Gly7Val)	FAM124A (G7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295112	NM_001242312.2(FAM124A):c.517C>A (p.Arg173Ser)	FAM124A (R173S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284182	NM_001242312.2(FAM124A):c.83A>C (p.His28Pro)	FAM124A (H28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277037	NM_001242312.2(FAM124A):c.895A>C (p.Lys299Gln)	FAM124A (K299Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260227	NM_001242312.2(FAM124A):c.1553C>T (p.Pro518Leu)	FAM124A (P518L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258554	NM_001242312.2(FAM124A):c.130C>A (p.Pro44Thr)	FAM124A (P80T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224074	NM_001242312.2(FAM124A):c.748G>A (p.Val250Met)	FAM124A (V250M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218773	NM_001242312.2(FAM124A):c.1475C>T (p.Ala492Val)	FAM124A (A528V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215562	NM_001242312.2(FAM124A):c.763A>C (p.Asn255His)	FAM124A (N291H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211280	NM_001242312.2(FAM124A):c.536G>T (p.Arg179Leu)	FAM124A (R215L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211279	NM_001242312.2(FAM124A):c.178C>A (p.Pro60Thr)	FAM124A (P60T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527772	GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137)	ALG11, ARL11 +64 more	Copy number loss	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341119	GRCh37/hg19 13q14.3(chr13:51611841-51867383)x3	FAM124A	Copy number gain	not provided	GLikely benign
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ATP7B, WDFY2 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 979369	GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3	ALG11, ARL11 +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	DIS3, KLF5 +62 more	Copy number loss	not provided	GPathogenic
Select item 787411	NM_001242312.2(FAM124A):c.231G>A (p.Pro77=)	FAM124A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785447	NM_001242312.2(FAM124A):c.1292A>G (p.Tyr431Cys)	FAM124A (Y467C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776797	NM_001242312.2(FAM124A):c.1341C>T (p.Ser447=)	FAM124A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774907	NM_001242312.2(FAM124A):c.101-3C>T	FAM124A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 685867	GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1	DLEU2, DLEU7 +45 more	Copy number loss	not provided	GUncertain significance
Select item 565290	Single allele	ALG11, ARL11 +50 more	Deletion	Intellectual disability	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441094	GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	Gnot provided
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic

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