29880[geneid] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 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 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 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 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 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 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 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 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 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 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	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 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	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 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	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 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 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 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	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 3111296	NM_013338.5(ALG5):c.962G>A (p.Arg321Gln)	ALG5 (R291Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111293	NM_013338.5(ALG5):c.926G>T (p.Arg309Leu)	ALG5 (R309L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211105	NM_013338.5(ALG5):c.926G>A (p.Arg309Gln)	ALG5 (R309Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298461	NM_013338.5(ALG5):c.916A>G (p.Ile306Val)	ALG5 (I276V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335261	NM_013338.5(ALG5):c.894A>C (p.Gln298His)	ALG5 (Q268H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234648	NM_013338.5(ALG5):c.799A>G (p.Ile267Val)	ALG5 (I237V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111280	NM_013338.5(ALG5):c.793C>G (p.Leu265Val)	ALG5 (L265V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708162	NM_013338.5(ALG5):c.773G>A (p.Trp258Ter)	ALG5 (W258* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease 7	GPathogenic
Select item 2294233	NM_013338.5(ALG5):c.770G>A (p.Arg257Gln)	ALG5 (R227Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111273	NM_013338.5(ALG5):c.755C>G (p.Ser252Cys)	ALG5 (S252C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031698	NM_013338.5(ALG5):c.747G>A (p.Thr249=)	ALG5	Single nucleotide variant (synonymous variant)	ALG5-related disorder	GLikely benign
Select item 3064450	NM_013338.5(ALG5):c.746C>T (p.Thr249Met)	ALG5 (T219M +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 7	GUncertain significance
Select item 3234029	NM_013338.5(ALG5):c.717ATT[1] (p.Leu240del)	ALG5 (L210del +1 more)	Microsatellite (inframe_deletion)	Polycystic kidney disease 7	GUncertain significance
Select item 3256644	NM_013338.5(ALG5):c.705G>C (p.Gln235His)	ALG5 (Q205H +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 7	GUncertain significance
Select item 1708161	NM_013338.5(ALG5):c.703_704del (p.Gln235fs)	ALG5 (Q205fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease 7	GPathogenic
Select item 2594359	NM_013338.5(ALG5):c.694A>G (p.Arg232Gly)	ALG5 (R232G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066151	NM_013338.5(ALG5):c.672G>A (p.Trp224Ter)	ALG5 (W194* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease 7	GLikely pathogenic
Select item 1708163	NM_013338.5(ALG5):c.635G>A (p.Arg212His)	ALG5 (R212H +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 7	GPathogenic
Select item 2633054	NM_013338.5(ALG5):c.634C>T (p.Arg212Cys)	ALG5 (R182C +1 more)	Single nucleotide variant (missense variant)	ALG5-related disorder	GUncertain significance
Select item 1708164	NM_013338.5(ALG5):c.623G>A (p.Arg208His)	ALG5 (R208H +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease 7	GPathogenic
Select item 3036667	NM_013338.5(ALG5):c.613A>G (p.Ile205Val)	ALG5 (I175V +1 more)	Single nucleotide variant (missense variant)	ALG5-related disorder	GUncertain significance
Select item 2398213	NM_013338.5(ALG5):c.560C>G (p.Pro187Arg)	ALG5 (P187R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3349249	NM_013338.5(ALG5):c.487G>A (p.Asp163Asn)	ALG5 (D133N +1 more)	Single nucleotide variant (missense variant)	ALG5-related disorder	GUncertain significance
Select item 2335425	NM_013338.5(ALG5):c.290G>A (p.Arg97Gln)	ALG5 (R97Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3256865	NM_013338.5(ALG5):c.239-2A>G	ALG5	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 7	GLikely pathogenic
Select item 3346143	NM_013338.5(ALG5):c.236G>A (p.Arg79Gln)	ALG5 (R79Q)	Single nucleotide variant (missense variant)	ALG5-related disorder	GUncertain significance
Select item 3054996	NM_013338.5(ALG5):c.208G>A (p.Val70Ile)	ALG5 (V70I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350218	NM_013338.5(ALG5):c.178T>C (p.Trp60Arg)	ALG5 (W60R)	Single nucleotide variant (missense variant)	ALG5-related disorder	GLikely benign
Select item 3111266	NM_013338.5(ALG5):c.116G>A (p.Arg39Gln)	ALG5 (R39Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3236195	NM_013338.5(ALG5):c.115C>T (p.Arg39Ter)	ALG5 (R39*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 7	GLikely pathogenic
Select item 3345153	NM_013338.5(ALG5):c.55G>T (p.Ala19Ser)	ALG5 (A19S)	Single nucleotide variant (missense variant)	ALG5-related disorder	GUncertain significance
Select item 3051151	NM_013338.5(ALG5):c.54A>C (p.Ala18=)	ALG5	Single nucleotide variant (synonymous variant)	ALG5-related disorder	GBenign
Select item 3040439	NM_013338.5(ALG5):c.36C>T (p.Gly12=)	ALG5, LOC130009578	Single nucleotide variant (synonymous variant)	ALG5-related disorder	GBenign
Select item 3040312	NM_013338.5(ALG5):c.31C>G (p.Leu11Val)	ALG5, LOC130009578 (L11V)	Single nucleotide variant (missense variant)	ALG5-related disorder	GLikely benign
Select item 3284205	NM_013338.5(ALG5):c.22C>G (p.Leu8Val)	ALG5, LOC130009578 (L8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3346692	NM_013338.5(ALG5):c.6T>A (p.Ala2=)	ALG5, LOC130009578	Single nucleotide variant (synonymous variant)	ALG5-related disorder	GLikely benign
Select item 3391920	GRCh37/hg19 13q12.3-14.3(chr13:32076445-54495559)x1	NEK5, NHLRC3 +121 more	Copy number loss	not provided	GPathogenic
Select item 3391853	GRCh37/hg19 13q11-31.3(chr13:19436287-92292639)x3	ACOD1, AKAP11 +244 more	Copy number gain	not provided	GPathogenic
Select item 3244229	NC_000013.10:g.(?_36878502)_(40325230_?)dup	ALG5, CCNA1 +16 more	Duplication	not provided	GUncertain significance
Select item 3244195	NC_000013.10:g.(?_37393495)_(37583436_?)del	ALG5, EXOSC8 +2 more	Deletion	MHC class II deficiency	GPathogenic
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 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	EPSTI1, ERICH6B +119 more	Copy number loss	not provided	GPathogenic
Select item 2684700	GRCh37/hg19 13q13.3(chr13:37267058-37979438)x3	ALG5, CSNK1A1L +5 more	Copy number gain	not provided	GUncertain significance
Select item 1809134	GRCh37/hg19 13q13.3-14.11(chr13:35501428-40901176)x1	ALG5, CCDC169 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808770	GRCh37/hg19 13q13.3-14.11(chr13:36148057-41670428)x3	ALG5, CCDC169 +26 more	Copy number gain	not provided	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 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527765	GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1	ALG5, CCDC169 +15 more	Copy number loss	not specified	GPathogenic
Select item 1527763	GRCh37/hg19 13q13.3(chr13:35531798-39607778)	ALG5, CCDC169 +19 more	Copy number loss	not specified	GLikely pathogenic
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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340435	GRCh37/hg19 13q13.3(chr13:37464566-38493263)x3	ALG5, CSNK1A1L +5 more	Copy number gain	not provided	GUncertain significance
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 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	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 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

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Items: 89