ClinVar for Gene (Select 122060) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318760	NM_001242868.2(SLAIN1):c.1292G>A (p.Arg431Gln)	SLAIN1 (R145Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318759	NM_001242868.2(SLAIN1):c.1424C>G (p.Pro475Arg)	SLAIN1 (P190R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318758	NM_001242868.2(SLAIN1):c.1235A>G (p.Gln412Arg)	SLAIN1 (Q248R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162704	NM_001242868.2(SLAIN1):c.965G>T (p.Ser322Ile)	SLAIN1 (S158I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162703	NM_001242868.2(SLAIN1):c.1609A>T (p.Ile537Leu)	SLAIN1 (I537L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162702	NM_001242868.2(SLAIN1):c.1478G>A (p.Arg493Gln)	SLAIN1 (R207Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162701	NM_001242868.2(SLAIN1):c.1220C>T (p.Ala407Val)	SLAIN1 (A122V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162700	NM_001242868.2(SLAIN1):c.1078C>T (p.Arg360Cys)	SLAIN1 (R360C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 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 3052462	NM_001242868.2(SLAIN1):c.1500C>G (p.Ala500=)	SLAIN1	Single nucleotide variant (synonymous variant)	SLAIN1-related disorder	GLikely benign
Select item 3051561	NM_001242868.2(SLAIN1):c.1376A>C (p.His459Pro)	SLAIN1 (H173P +8 more)	Single nucleotide variant (missense variant)	SLAIN1-related disorder	GLikely benign
Select item 3042765	NM_001242868.2(SLAIN1):c.626+500G>A	SLAIN1 (G39E)	Single nucleotide variant (missense variant +1 more)	SLAIN1-related disorder	GBenign
Select item 3038901	NM_001242868.2(SLAIN1):c.916+32G>T	SLAIN1 (R2S)	Single nucleotide variant (missense variant +1 more)	SLAIN1-related disorder	GBenign
Select item 3034466	NM_001242868.2(SLAIN1):c.1341C>T (p.Thr447=)	SLAIN1	Single nucleotide variant (synonymous variant)	SLAIN1-related disorder	GLikely benign
Select item 3029516	NM_001242868.2(SLAIN1):c.190C>T (p.Pro64Ser)	MIR3665, SLAIN1 (P64S)	Single nucleotide variant (non-coding transcript variant +1 more)	SLAIN1-related disorder	GLikely benign
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2664346	GRCh37/hg19 13q22.2-22.3(chr13:76441389-78303365)x3	ACOD1, CLN5 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2617406	NM_001242868.2(SLAIN1):c.1138A>T (p.Ile380Phe)	SLAIN1 (I266F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570510	NM_001242868.2(SLAIN1):c.1453G>A (p.Val485Met)	SLAIN1 (V199M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554112	NM_001242868.2(SLAIN1):c.1348A>G (p.Asn450Asp)	SLAIN1 (N501D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528920	NM_001242868.2(SLAIN1):c.1162A>G (p.Ser388Gly)	SLAIN1 (S224G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493886	NM_001242868.2(SLAIN1):c.824G>A (p.Ser275Asn)	SLAIN1 (S325N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483351	NM_001242868.2(SLAIN1):c.1381G>T (p.Ala461Ser)	SLAIN1 (A176S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466153	NM_001242868.2(SLAIN1):c.1648A>G (p.Ile550Val)	SLAIN1 (I265V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388622	NM_001242868.2(SLAIN1):c.1516G>A (p.Val506Ile)	SLAIN1 (V342I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386396	NM_001242868.2(SLAIN1):c.1226C>T (p.Thr409Ile)	SLAIN1 (T245I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380987	NM_001242868.2(SLAIN1):c.121A>G (p.Lys41Glu)	MIR3665, SLAIN1 (K41E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2353029	NM_001242868.2(SLAIN1):c.43T>C (p.Ser15Pro)	LOC130009927, SLAIN1 (S15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343766	NM_001242868.2(SLAIN1):c.515C>T (p.Pro172Leu)	LOC130009928, SLAIN1 (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296192	NM_001242868.2(SLAIN1):c.1684C>G (p.Gln562Glu)	SLAIN1 (Q163E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259840	NM_001242868.2(SLAIN1):c.1393A>G (p.Ile465Val)	SLAIN1 (I179V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251506	NM_001242868.2(SLAIN1):c.259A>C (p.Thr87Pro)	SLAIN1 (T88P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238063	NM_001242868.2(SLAIN1):c.701T>C (p.Val234Ala)	SLAIN1 (V234A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216360	NM_001242868.2(SLAIN1):c.452A>G (p.Lys151Arg)	LOC130009928, SLAIN1 (K151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
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 1527784	GRCh37/hg19 13q22.2-31.2(chr13:75574661-87784831)	KCTD12, NDFIP2 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527778	GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)	ACOD1, ATXN8OS +29 more	Copy number loss	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	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 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 1409001	NC_000013.10:g.(?_77566087)_(78492734_?)dup	CLN5, EDNRB +4 more	Duplication	not provided	GUncertain significance
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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1341055	GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1	ACOD1, ATXN8OS +35 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 1074432	NC_000013.10:g.(?_77566087)_(78492734_?)del	CLN5, EDNRB +4 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 815600	GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1	KLF5, LINC00402 +27 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
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 768621	NM_001242868.2(SLAIN1):c.230dup (p.Leu78fs)	SLAIN1 (L78fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 768620	NM_001242868.2(SLAIN1):c.220_221dup (p.Leu75fs)	SLAIN1 (L75fs)	Duplication (frameshift 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 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 685773	GRCh37/hg19 13q22.3-31.1(chr13:78263582-79031145)x3	EDNRB, SLAIN1	Copy number gain	not provided	GUncertain significance
Select item 564079	GRCh37/hg19 13q22.2-31.3(chr13:76942604-90660121)x1	ACOD1, CLN5 +15 more	Copy number loss	not provided	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 503586	GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1	LMO7, LMO7DN +31 more	Copy number loss	See cases	GPathogenic
Select item 443522	GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3	ABCC4, ACOD1 +60 more	Copy number gain	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	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 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	ABCC4, ABHD13 +125 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	MIR4500HG, MIR92A1 +102 more	Copy number loss	See cases	GPathogenic
Select item 394747	GRCh37/hg19 13q22.3-31.1(chr13:77455170-81099829)x1	ACOD1, CLN5 +11 more	Copy number loss	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 394318	GRCh37/hg19 13q21.33-31.1(chr13:72174742-82221361)x1	LOC100288208, MYCBP2 +25 more	Copy number loss	See cases	GPathogenic
Select item 253533	GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1	ACOD1, BORA +27 more	Copy number loss	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 155612	GRCh38/hg38 13q22.3-31.1(chr13:77437522-78501976)x3	EDNRB, EDNRB-AS1 +19 more	Copy number gain	See cases	GUncertain significance
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 153559	GRCh38/hg38 13q22.2-31.1(chr13:76530209-78531570)x1	ACOD1, CLN5 +50 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 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 149578	GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1	ACOD1, BORA +141 more	Copy number loss	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 147734	GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1	EDNRB, EDNRB-AS1 +133 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 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 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 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

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