ClinVar for Gene (Select 3642) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286156	NM_002196.3(INSM1):c.509G>T (p.Gly170Val)	INSM1 (G170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148932	GRCh37/hg19 20p11.23(chr20:19135948-20372082)x3	CFAP61, CRNKL1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 3109923	NM_002196.3(INSM1):c.882G>C (p.Glu294Asp)	INSM1 (E294D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109922	NM_002196.3(INSM1):c.616A>G (p.Thr206Ala)	INSM1 (T206A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109921	NM_002196.3(INSM1):c.605C>G (p.Pro202Arg)	INSM1 (P202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109920	NM_002196.3(INSM1):c.529G>A (p.Ala177Thr)	INSM1 (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109919	NM_002196.3(INSM1):c.239C>T (p.Pro80Leu)	INSM1 (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109918	NM_002196.3(INSM1):c.1309T>C (p.Ser437Pro)	INSM1 (S437P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109917	NM_002196.3(INSM1):c.1129C>T (p.Arg377Cys)	INSM1 (R377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068499	Single allele	CFAP61, CRNKL1 +10 more	Complex	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068496	NC_000020.10:g.19434987_22528253del	CFAP61, CRNKL1 +10 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	CD93, CFAP61 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	PTPRA, RAD21L1 +164 more	Copy number gain	not provided	GPathogenic
Select item 2606782	NM_002196.3(INSM1):c.476C>T (p.Pro159Leu)	INSM1 (P159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2545692	NM_002196.3(INSM1):c.116C>T (p.Ala39Val)	INSM1 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544790	NM_002196.3(INSM1):c.80A>G (p.Asp27Gly)	INSM1 (D27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543795	NM_002196.3(INSM1):c.613C>T (p.Pro205Ser)	INSM1 (P205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534171	NM_002196.3(INSM1):c.1351G>C (p.Ala451Pro)	INSM1 (A451P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533978	NM_002196.3(INSM1):c.259C>T (p.His87Tyr)	INSM1 (H87Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519179	NM_002196.3(INSM1):c.629C>A (p.Pro210Gln)	INSM1 (P210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518047	NM_002196.3(INSM1):c.509G>A (p.Gly170Asp)	INSM1 (G170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491286	NM_002196.3(INSM1):c.307A>T (p.Thr103Ser)	INSM1 (T103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463782	NM_002196.3(INSM1):c.128C>T (p.Pro43Leu)	INSM1 (P43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457775	NM_002196.3(INSM1):c.235C>T (p.Pro79Ser)	INSM1 (P79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410181	NM_002196.3(INSM1):c.560C>T (p.Pro187Leu)	INSM1 (P187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406504	NM_002196.3(INSM1):c.244G>C (p.Gly82Arg)	INSM1 (G82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400756	NM_002196.3(INSM1):c.1141T>C (p.Tyr381His)	INSM1 (Y381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383169	NM_002196.3(INSM1):c.778G>C (p.Ala260Pro)	INSM1 (A260P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359712	NM_002196.3(INSM1):c.422G>T (p.Gly141Val)	INSM1 (G141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339254	NM_002196.3(INSM1):c.802A>G (p.Ile268Val)	INSM1 (I268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331716	NM_002196.3(INSM1):c.161C>A (p.Pro54Gln)	INSM1 (P54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329412	NM_002196.3(INSM1):c.1108C>T (p.His370Tyr)	INSM1 (H370Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325390	NM_002196.3(INSM1):c.595G>C (p.Gly199Arg)	INSM1 (G199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306904	NM_002196.3(INSM1):c.1381C>A (p.Arg461Ser)	INSM1 (R461S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290639	NM_002196.3(INSM1):c.1208C>T (p.Pro403Leu)	INSM1 (P403L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270661	NM_002196.3(INSM1):c.238C>A (p.Pro80Thr)	INSM1 (P80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246993	NM_002196.3(INSM1):c.1364C>G (p.Ala455Gly)	INSM1 (A455G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235496	NM_002196.3(INSM1):c.37T>G (p.Ser13Ala)	INSM1 (S13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526686	GRCh37/hg19 20p11.23-11.22(chr20:19292925-22187397)	CFAP61, CRNKL1 +10 more	Copy number loss	not specified	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 781477	NM_002196.3(INSM1):c.180G>A (p.Glu60=)	INSM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 395108	GRCh37/hg19 20p11.23(chr20:20348924-20373391)x3	INSM1, RALGAPA2	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 61