STOML3[gene] - ClinVar

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Items: 79

	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 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 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 154055	GRCh38/hg38 13q13.3(chr13:37156369-39010872)x3	FREM2, FREM2-AS1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57641	GRCh38/hg38 13q13.3(chr13:37210304-39034199)x1	FREM2, FREM2-AS1 +25 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 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 1338846	GRCh38/hg38 13q13.3(chr13:38940342-39433293)	LHFPL6, LOC105370169 +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 2322960	NM_145286.3(STOML3):c.858G>C (p.Lys286Asn)	STOML3 (K277N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348765	NM_145286.3(STOML3):c.782A>G (p.Asn261Ser)	STOML3 (N252S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394406	NM_145286.3(STOML3):c.775G>A (p.Glu259Lys)	STOML3 (E250K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320684	NM_145286.3(STOML3):c.764C>T (p.Thr255Met)	STOML3 (T246M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570533	NM_145286.3(STOML3):c.742C>T (p.Arg248Cys)	STOML3 (R239C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260157	NM_145286.3(STOML3):c.731C>T (p.Ala244Val)	STOML3 (A235V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602932	NM_145286.3(STOML3):c.709G>T (p.Val237Leu)	STOML3 (V228L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171491	NM_145286.3(STOML3):c.689C>T (p.Ser230Phe)	STOML3 (S230F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336191	NM_145286.3(STOML3):c.685A>G (p.Lys229Glu)	STOML3 (K220E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618188	NM_145286.3(STOML3):c.621G>T (p.Glu207Asp)	STOML3 (E198D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323372	NM_145286.3(STOML3):c.553C>T (p.Arg185Trp)	STOML3 (R176W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363847	NM_145286.3(STOML3):c.538G>A (p.Glu180Lys)	STOML3 (E171K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467820	NM_145286.3(STOML3):c.491G>A (p.Arg164Gln)	STOML3 (R155Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171490	NM_145286.3(STOML3):c.403G>A (p.Asp135Asn)	STOML3 (D135N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323374	NM_145286.3(STOML3):c.376G>C (p.Ala126Pro)	STOML3 (A126P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323373	NM_145286.3(STOML3):c.281G>A (p.Arg94Gln)	STOML3 (R85Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464335	NM_145286.3(STOML3):c.265G>A (p.Val89Ile)	STOML3 (V89I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171489	NM_145286.3(STOML3):c.234G>C (p.Leu78Phe)	STOML3 (L78F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374095	NM_145286.3(STOML3):c.217G>A (p.Ala73Thr)	STOML3 (A73T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593519	NM_145286.3(STOML3):c.190C>T (p.Arg64Cys)	STOML3 (R64C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460570	NM_145286.3(STOML3):c.175C>T (p.Arg59Cys)	STOML3 (R50C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314244	NM_145286.3(STOML3):c.151T>G (p.Leu51Val)	STOML3 (L42V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349941	NM_145286.3(STOML3):c.141A>G (p.Ile47Met)	STOML3 (I38M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298200	NM_145286.3(STOML3):c.115G>A (p.Val39Met)	STOML3 (V39M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298201	NM_145286.3(STOML3):c.64A>C (p.Lys22Gln)	STOML3 (K22Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323371	NM_145286.3(STOML3):c.49G>A (p.Val17Met)	STOML3 (V17M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2319305	NM_145286.3(STOML3):c.42G>T (p.Glu14Asp)	STOML3 (E14D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3244229	NC_000013.10:g.(?_36878502)_(40325230_?)dup	ALG5, CCNA1 +16 more	Duplication	not provided	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 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	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
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 1527767	GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103)	AKAP11, COG6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 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 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 979367	GRCh37/hg19 13q13.3-14.11(chr13:39531602-40152084)x1	LHFPL6, NHLRC3 +2 more	Copy number loss	not provided	GUncertain significance
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: 79