STOML1[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 3171475	NM_004809.5(STOML1):c.1162A>G (p.Met388Val)	STOML1 (M317V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229875	NM_004809.5(STOML1):c.1147G>A (p.Asp383Asn)	STOML1 (D382N +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617887	NM_004809.5(STOML1):c.1079G>A (p.Arg360Gln)	STOML1 (R203Q +10 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3323369	NM_004809.5(STOML1):c.1058A>T (p.Glu353Val)	STOML1 (E266V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171474	NM_004809.5(STOML1):c.1049T>C (p.Val350Ala)	STOML1 (V263A +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241401	NM_004809.5(STOML1):c.1024G>A (p.Gly342Arg)	STOML1 (G185R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323367	NM_004809.5(STOML1):c.979G>A (p.Ala327Thr)	STOML1 (A171T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171484	NM_004809.5(STOML1):c.910G>A (p.Glu304Lys)	STOML1 (E216K +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171483	NM_004809.5(STOML1):c.833C>T (p.Pro278Leu)	STOML1 (P228L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494291	NM_004809.5(STOML1):c.808G>A (p.Val270Met)	STOML1 (V113M +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323365	NM_004809.5(STOML1):c.797C>T (p.Thr266Ile)	STOML1 (T110I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323368	NM_004809.5(STOML1):c.785G>T (p.Gly262Val)	STOML1 (G175V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171482	NM_004809.5(STOML1):c.782C>T (p.Pro261Leu)	STOML1 (P105L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288519	NM_004809.5(STOML1):c.607G>A (p.Asp203Asn)	STOML1 (D161N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487928	NM_004809.5(STOML1):c.604A>G (p.Asn202Asp)	STOML1 (N115D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471423	NM_004809.5(STOML1):c.545C>T (p.Pro182Leu)	LOC126862176, STOML1 (P26L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171480	NM_004809.5(STOML1):c.520A>G (p.Met174Val)	LOC126862176, STOML1 (M87V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171479	NM_004809.5(STOML1):c.502A>G (p.Met168Val)	LOC126862176, STOML1 (M126V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323366	NM_004809.5(STOML1):c.464C>T (p.Ser155Leu)	LOC126862176, STOML1 (S105L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614897	NM_004809.5(STOML1):c.458T>G (p.Val153Gly)	LOC126862176, STOML1 (V111G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253143	NM_004809.5(STOML1):c.289C>T (p.Arg97Cys)	STOML1 (R97C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542733	NM_004809.5(STOML1):c.274C>A (p.Arg92Ser)	STOML1 (R5S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493186	NM_004809.5(STOML1):c.259C>T (p.Arg87Trp)	STOML1 (R87W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257078	NM_004809.5(STOML1):c.66C>G (p.Ser22Arg)	LOC130057506, STOML1 (S22R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3171478	NM_004809.5(STOML1):c.37G>A (p.Gly13Ser)	LOC130057506, STOML1 (G13S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3171477	NM_004809.5(STOML1):c.22C>T (p.Arg8Trp)	LOC130057506, STOML1 (R8W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3243817	NC_000015.9:g.(?_72978569)_(75190071_?)del	ADPGK, ARID3B +29 more	Deletion	Brugada syndrome 8	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815734	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	not provided	GPathogenic
Select item 688538	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 687513	GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	ADPGK, ARID3B +47 more	Copy number gain	not provided	GPathogenic
Select item 687381	GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 564215	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	ADPGK, ARID3B +48 more	Copy number loss	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560117	Single allele	ADPGK, ARID3B +37 more	Deletion	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443649	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 441056	GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1	ADPGK, STOML1 +48 more	Copy number loss	not provided	Gnot provided
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253560	GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 60