NET1[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 545134	Single allele	LOC130003188, LOC130003189 +195 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 146553	GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	AKR1C1, AKR1C2 +175 more	Copy number loss	See cases	GUncertain significance
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148178	GRCh38/hg38 10p15.1(chr10:4871826-5811361)x3	AKR1C1, AKR1C2 +52 more	Copy number gain	See cases	GUncertain significance
Select item 152194	GRCh38/hg38 10p15.1(chr10:5161663-5599060)x1	AKR1C4, AKR1C8 +27 more	Copy number loss	See cases	GLikely benign
Select item 152787	GRCh38/hg38 10p15.1(chr10:5406594-5566679)x3	CALML3, CALML3-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2313766	NM_001047160.3(NET1):c.289C>T (p.Arg97Cys)	NET1 (R97C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312503	NM_001047160.3(NET1):c.290G>A (p.Arg97His)	NET1 (R97H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194137	NM_001047160.3(NET1):c.304G>A (p.Ala102Thr)	NET1 (A102T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194139	NM_001047160.3(NET1):c.343C>T (p.Arg115Cys)	NET1 (R115C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320092	NM_001047160.3(NET1):c.394C>T (p.Pro132Ser)	NET1 (P132S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194148	NM_001047160.3(NET1):c.401C>T (p.Ser134Phe)	NET1 (S134F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299324	NM_001047160.3(NET1):c.482A>G (p.Asp161Gly)	NET1 (D107G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194150	NM_001047160.3(NET1):c.491T>C (p.Met164Thr)	NET1 (M110T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 487790	NM_001047160.3(NET1):c.498G>T (p.Glu166Asp)	NET1 (E166D +1 more)	Single nucleotide variant (missense variant +1 more)	Ependymoma	GUncertain significance
Select item 2220540	NM_001047160.3(NET1):c.523C>T (p.Arg175Trp)	NET1 (R121W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457625	NM_001047160.3(NET1):c.551G>A (p.Arg184Gln)	NET1 (R130Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351876	NM_001047160.3(NET1):c.569T>C (p.Ile190Thr)	NET1 (I136T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 207847	NM_001047160.3(NET1):c.583C>T (p.Leu195Phe)	NET1 (L195F +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 776492	NM_001047160.3(NET1):c.600= (p.Tyr200=)	NET1	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 3299325	NM_001047160.3(NET1):c.747T>G (p.Ile249Met)	NET1 (I249M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299321	NM_001047160.3(NET1):c.776G>A (p.Arg259His)	NET1 (R259H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334987	NM_001047160.3(NET1):c.782A>G (p.Asn261Ser)	NET1 (N207S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316358	NM_001047160.3(NET1):c.821A>G (p.Lys274Arg)	NET1 (K274R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523384	NM_001047160.3(NET1):c.824C>T (p.Ala275Val)	NET1 (A221V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 224114	NM_001047160.3(NET1):c.839A>G (p.Lys280Arg)	NET1 (K226R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194172	NM_001047160.3(NET1):c.841A>G (p.Lys281Glu)	NET1 (K227E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379091	NM_001047160.3(NET1):c.1221A>C (p.Gln407His)	NET1 (Q353H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194082	NM_001047160.3(NET1):c.1241G>A (p.Arg414Gln)	NET1 (R414Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778966	NM_001047160.3(NET1):c.1250C>T (p.Thr417Ile)	NET1 (T363I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3194085	NM_001047160.3(NET1):c.1253G>A (p.Arg418Gln)	NET1 (R418Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552530	NM_001047160.3(NET1):c.1267T>C (p.Ser423Pro)	NET1 (S369P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717975	NM_001047160.3(NET1):c.1389A>G (p.Lys463=)	NET1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2392063	NM_001047160.3(NET1):c.1406G>A (p.Arg469His)	NET1 (R415H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709561	NM_001047160.3(NET1):c.1455C>T (p.Asp485=)	NET1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2351025	NM_001047160.3(NET1):c.1456G>A (p.Val486Met)	NET1 (V486M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389524	NM_001047160.3(NET1):c.1490G>A (p.Arg497Gln)	NET1 (R497Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488467	NM_001047160.3(NET1):c.1504C>T (p.Pro502Ser)	NET1 (P448S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333485	NM_001047160.3(NET1):c.1505C>G (p.Pro502Arg)	NET1 (P448R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194106	NM_001047160.3(NET1):c.1531G>A (p.Glu511Lys)	NET1 (E511K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553368	NM_001047160.3(NET1):c.1547C>T (p.Pro516Leu)	NET1 (P462L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769763	NM_001047160.3(NET1):c.1558G>A (p.Glu520Lys)	NET1 (E466K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2560041	NM_001047160.3(NET1):c.1562A>T (p.Glu521Val)	NET1 (E467V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194113	NM_001047160.3(NET1):c.1612G>T (p.Ala538Ser)	NET1 (A484S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338582	NM_001047160.3(NET1):c.1627A>G (p.Ser543Gly)	NET1 (S543G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769764	NM_001047160.3(NET1):c.1644A>G (p.Glu548=)	NET1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3194121	NM_001047160.3(NET1):c.1658C>T (p.Ala553Val)	NET1 (A499V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299322	NM_001047160.3(NET1):c.1729G>A (p.Gly577Ser)	NET1 (G577S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353051	NM_001047160.3(NET1):c.1742C>T (p.Ala581Val)	NET1 (A581V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735073	NM_001047160.3(NET1):c.1752A>G (p.Lys584=)	NET1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3299323	NM_001047160.3(NET1):c.1763G>A (p.Gly588Asp)	NET1 (G588D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520002	NM_001047160.3(NET1):c.1766G>T (p.Gly589Val)	NET1 (G535V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640289	NM_001047160.3(NET1):c.1773G>C (p.Arg591=)	NET1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1340138	GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3	AKR1C1, AKR1C2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 815316	GRCh37/hg19 10p15.1(chr10:5201443-5658539)x1	NET1, CALML3 +5 more	Copy number loss	not provided	GUncertain significance
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic

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Items: 82