ClinVar for Gene (Select 79748) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290880	NM_021819.3(LMAN1L):c.30A>T (p.Leu10Phe)	LMAN1L (L10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290879	NM_021819.3(LMAN1L):c.163A>G (p.Ser55Gly)	LMAN1L (S55G)	Single nucleotide variant (missense variant)	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 3119213	NM_021819.3(LMAN1L):c.997G>A (p.Ala333Thr)	LMAN1L (A333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119212	NM_021819.3(LMAN1L):c.971G>A (p.Arg324Gln)	LMAN1L (R324Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119211	NM_021819.3(LMAN1L):c.831A>C (p.Glu277Asp)	LMAN1L (E277D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119209	NM_021819.3(LMAN1L):c.679G>A (p.Gly227Ser)	LMAN1L (G227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119208	NM_021819.3(LMAN1L):c.595C>T (p.Arg199Cys)	LMAN1L (R199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119207	NM_021819.3(LMAN1L):c.514G>A (p.Gly172Arg)	LMAN1L (G172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119206	NM_021819.3(LMAN1L):c.371T>C (p.Val124Ala)	LMAN1L (V124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119205	NM_021819.3(LMAN1L):c.1555C>T (p.Pro519Ser)	LMAN1L (P519S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119204	NM_021819.3(LMAN1L):c.148G>A (p.Gly50Arg)	LMAN1L (G50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119202	NM_021819.3(LMAN1L):c.1313G>A (p.Arg438Gln)	LMAN1L (R438Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063378	GRCh37/hg19 15q24.1-24.2(chr15:74823917-75455431)x3	ARID3B, CLK3 +14 more	Copy number gain	not specified	GUncertain significance
Select item 2613542	NM_021819.3(LMAN1L):c.970C>T (p.Arg324Trp)	LMAN1L (R324W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609928	NM_021819.3(LMAN1L):c.1192G>A (p.Glu398Lys)	LMAN1L (E398K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589686	NM_021819.3(LMAN1L):c.299C>T (p.Thr100Met)	LMAN1L (T100M)	Single nucleotide variant (missense variant)	not specified	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 2541092	NM_021819.3(LMAN1L):c.47T>G (p.Leu16Arg)	LMAN1L (L16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534812	NM_021819.3(LMAN1L):c.1127A>G (p.Asn376Ser)	LMAN1L (N376S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529942	NM_021819.3(LMAN1L):c.1470C>A (p.Ser490Arg)	LMAN1L (S490R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529832	NM_021819.3(LMAN1L):c.305T>G (p.Leu102Arg)	LMAN1L (L102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522898	NM_021819.3(LMAN1L):c.185T>A (p.Leu62Gln)	LMAN1L (L62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522897	NM_021819.3(LMAN1L):c.179C>T (p.Ala60Val)	LMAN1L (A60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2492238	NM_021819.3(LMAN1L):c.949C>T (p.Arg317Cys)	LMAN1L (R317C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485493	NM_021819.3(LMAN1L):c.284T>C (p.Val95Ala)	LMAN1L (V95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457713	NM_021819.3(LMAN1L):c.55G>A (p.Asp19Asn)	LMAN1L (D19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 2402810	NM_021819.3(LMAN1L):c.32T>C (p.Phe11Ser)	LMAN1L (F11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388999	NM_021819.3(LMAN1L):c.935C>T (p.Thr312Met)	LMAN1L (T312M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354008	NM_021819.3(LMAN1L):c.8C>T (p.Ala3Val)	LMAN1L (A3V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351417	NM_021819.3(LMAN1L):c.952C>G (p.Arg318Gly)	LMAN1L (R318G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344776	NM_021819.3(LMAN1L):c.1051G>A (p.Gly351Arg)	LMAN1L (G351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339318	NM_021819.3(LMAN1L):c.692T>A (p.Val231Asp)	LMAN1L (V231D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330150	NM_021819.3(LMAN1L):c.1214G>A (p.Arg405His)	LMAN1L (R405H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327450	NM_021819.3(LMAN1L):c.1487C>T (p.Ser496Phe)	LMAN1L (S496F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319001	NM_021819.3(LMAN1L):c.697G>A (p.Ala233Thr)	LMAN1L (A233T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317394	NM_021819.3(LMAN1L):c.1532C>G (p.Ala511Gly)	LMAN1L (A511G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313278	NM_021819.3(LMAN1L):c.1360C>A (p.Pro454Thr)	LMAN1L (P454T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299983	NM_021819.3(LMAN1L):c.404G>T (p.Gly135Val)	LMAN1L (G135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263439	NM_021819.3(LMAN1L):c.1234G>A (p.Val412Ile)	LMAN1L (V412I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261829	NM_021819.3(LMAN1L):c.1213C>T (p.Arg405Cys)	LMAN1L (R405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257382	NM_021819.3(LMAN1L):c.812G>A (p.Arg271His)	LMAN1L (R271H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239177	NM_021819.3(LMAN1L):c.1385A>G (p.Gln462Arg)	LMAN1L (Q462R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703679	GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)	ARID3B, C15orf39 +34 more	Copy number loss	Hearing impairment	GPathogenic
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 980532	GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1	ARID3B, C15orf39 +34 more	Copy number loss	not provided	GPathogenic
Select item 815735	GRCh37/hg19 15q24.1-24.2(chr15:75039267-75268029)x1	CPLX3, COX5A +8 more	Copy number loss	not provided	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 564218	GRCh37/hg19 15q24.1-24.2(chr15:75078195-75862756)x1	SCAMP2, ULK3 +17 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 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
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 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
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
Select item 161751	NM_021819.3(LMAN1L):c.1338G>T (p.Lys446Asn)	LMAN1L (K446N)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
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 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	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 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 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 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 83