ISL2[gene] - ClinVar

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Items: 36

	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 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 2535550	NM_145805.3(ISL2):c.77T>C (p.Met26Thr)	ISL2 (M26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226028	NM_145805.3(ISL2):c.307A>T (p.Met103Leu)	ISL2 (M103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111003	NM_145805.3(ISL2):c.387G>C (p.Glu129Asp)	ISL2 (E129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479816	NM_145805.3(ISL2):c.401A>T (p.Glu134Val)	ISL2 (E134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408483	NM_145805.3(ISL2):c.442G>C (p.Glu148Gln)	ISL2 (E148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111004	NM_145805.3(ISL2):c.496G>C (p.Gly166Arg)	ISL2 (G166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283212	NM_145805.3(ISL2):c.523G>A (p.Gly175Ser)	ISL2 (G175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542155	NM_145805.3(ISL2):c.526C>G (p.Arg176Gly)	ISL2 (R176G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542872	NM_145805.3(ISL2):c.563C>G (p.Thr188Arg)	ISL2 (T188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111005	NM_145805.3(ISL2):c.695C>T (p.Pro232Leu)	ISL2 (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607167	NM_145805.3(ISL2):c.830C>T (p.Ala277Val)	ISL2 (A277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111006	NM_145805.3(ISL2):c.923C>T (p.Ala308Val)	ISL2 (A308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111007	NM_145805.3(ISL2):c.950C>T (p.Ala317Val)	ISL2 (A317V)	Single nucleotide variant (missense variant)	not specified	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 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	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 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	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 980536	GRCh37/hg19 15q24.3(chr15:76617379-76993135)x1	ISL2, SCAPER	Copy number loss	not provided	GUncertain significance
Select item 980534	GRCh37/hg19 15q24.2-24.3(chr15:75920400-76632051)x3	TMEM266, CSPG4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	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 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 254010	GRCh37/hg19 15q24.2-24.3(chr15:76223116-77023288)x3	FBXO22, ISL2 +5 more	Copy number gain	See cases	GUncertain significance
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: 36