ISLR2[gene] - ClinVar

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Items: 74

	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 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 3111022	NM_020851.3(ISLR2):c.199C>T (p.Arg67Trp)	ISLR2 (R67W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111024	NM_020851.3(ISLR2):c.220G>A (p.Val74Ile)	ISLR2 (V74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111025	NM_020851.3(ISLR2):c.254A>G (p.Asn85Ser)	ISLR2 (N85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111026	NM_020851.3(ISLR2):c.278G>C (p.Gly93Ala)	ISLR2 (G93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111027	NM_020851.3(ISLR2):c.335C>G (p.Ser112Cys)	ISLR2 (S112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339162	NM_020851.3(ISLR2):c.359G>T (p.Arg120Leu)	ISLR2 (R120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352591	NM_020851.3(ISLR2):c.440C>T (p.Pro147Leu)	ISLR2 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286617	NM_020851.3(ISLR2):c.514G>T (p.Ala172Ser)	ISLR2 (A172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111028	NM_020851.3(ISLR2):c.671G>A (p.Arg224His)	ISLR2 (R224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348107	NM_020851.3(ISLR2):c.715G>A (p.Ala239Thr)	ISLR2 (A239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623426	NM_020851.3(ISLR2):c.880G>A (p.Gly294Arg)	ISLR2 (G294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346817	NM_020851.3(ISLR2):c.911G>C (p.Gly304Ala)	ISLR2 (G304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220834	NM_020851.3(ISLR2):c.917G>A (p.Gly306Glu)	ISLR2 (G306E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454472	NM_020851.3(ISLR2):c.974C>T (p.Ala325Val)	ISLR2 (A325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286618	NM_020851.3(ISLR2):c.1037G>C (p.Ser346Thr)	ISLR2 (S346T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523544	NM_020851.3(ISLR2):c.1174G>A (p.Ala392Thr)	ISLR2 (A392T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286620	NM_020851.3(ISLR2):c.1262G>A (p.Gly421Asp)	ISLR2 (G421D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277453	NM_020851.3(ISLR2):c.1567G>A (p.Gly523Arg)	ISLR2 (G523R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497698	NM_020851.3(ISLR2):c.1580T>A (p.Leu527Gln)	ISLR2 (L527Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353825	NM_020851.3(ISLR2):c.1624C>T (p.Gln542Ter)	ISLR2 (Q542*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 625865	NM_020851.3(ISLR2):c.1660del (p.Trp554fs)	ISLR2 (W554fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2548031	NM_020851.3(ISLR2):c.1669G>C (p.Gly557Arg)	ISLR2 (G557R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111018	NM_020851.3(ISLR2):c.1694C>A (p.Ser565Tyr)	ISLR2 (S565Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316389	NM_020851.3(ISLR2):c.1715G>C (p.Gly572Ala)	ISLR2 (G572A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111019	NM_020851.3(ISLR2):c.1870C>A (p.Pro624Thr)	ISLR2 (P624T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111020	NM_020851.3(ISLR2):c.1876C>T (p.Arg626Cys)	ISLR2 (R626C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111021	NM_020851.3(ISLR2):c.1970G>A (p.Ser657Asn)	ISLR2 (S657N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286619	NM_020851.3(ISLR2):c.1978G>T (p.Ala660Ser)	ISLR2 (A660S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209496	NM_020851.3(ISLR2):c.2013C>A (p.Asp671Glu)	ISLR2 (D671E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2478260	NM_020851.3(ISLR2):c.2030T>C (p.Leu677Pro)	ISLR2 (L677P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607168	NM_020851.3(ISLR2):c.2077G>A (p.Glu693Lys)	ISLR2 (E693K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314459	NM_020851.3(ISLR2):c.2177G>A (p.Gly726Asp)	ISLR2 (G726D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111023	NM_020851.3(ISLR2):c.2198C>G (p.Ala733Gly)	ISLR2 (A733G)	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 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 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 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 564217	GRCh37/hg19 15q24.1(chr15:74408834-74622533)x3	CCDC33, ISLR +2 more	Copy number gain	not provided	GUncertain significance
Select item 564216	GRCh37/hg19 15q24.1(chr15:74315568-74654641)x3	CCDC33, CYP11A1 +5 more	Copy number gain	not provided	GUncertain significance
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 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

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Items: 74