NTSR2[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 154445	GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3	C2orf50, E2F6 +98 more	Copy number gain	See cases	GPathogenic
Select item 545241	NC_000002.12:g.(?_11177745)_(16113827_?)del	MYCNUT, NBAS +100 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153652	GRCh38/hg38 2p25.1(chr2:11270488-11924312)x3	E2F6, GREB1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 152514	GRCh38/hg38 2p25.1(chr2:11616843-11804136)x3	GREB1, LOC100506405 +14 more	Copy number gain	See cases	GLikely benign
Select item 2227763	NM_012344.4(NTSR2):c.1216C>A (p.Pro406Thr)	NTSR2 (P406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650686	NM_012344.4(NTSR2):c.1164G>A (p.Pro388=)	NTSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370825	NM_012344.4(NTSR2):c.1154G>A (p.Arg385Gln)	NTSR2 (R385Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488272	NM_012344.4(NTSR2):c.1153C>T (p.Arg385Trp)	NTSR2 (R385W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301319	NM_012344.4(NTSR2):c.1117G>A (p.Val373Ile)	NTSR2 (V373I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202661	NM_012344.4(NTSR2):c.1116C>T (p.Ala372=)	NTSR2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3202659	NM_012344.4(NTSR2):c.1072T>C (p.Tyr358His)	NTSR2 (Y358H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379137	NM_012344.4(NTSR2):c.980C>T (p.Ala327Val)	NTSR2 (A327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280380	NM_012344.4(NTSR2):c.976G>A (p.Asp326Asn)	NTSR2 (D326N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295201	NM_012344.4(NTSR2):c.913A>G (p.Met305Val)	NTSR2 (M305V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603201	NM_012344.4(NTSR2):c.907G>A (p.Val303Met)	NTSR2 (V303M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311989	NM_012344.4(NTSR2):c.881G>A (p.Arg294His)	NTSR2 (R294H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202666	NM_012344.4(NTSR2):c.860G>A (p.Arg287His)	NTSR2 (R287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782401	NM_012344.4(NTSR2):c.845G>A (p.Arg282Lys)	NTSR2 (R282K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 738625	NM_012344.4(NTSR2):c.757C>A (p.Arg253Ser)	NTSR2 (R253S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3301318	NM_012344.4(NTSR2):c.737C>T (p.Pro246Leu)	NTSR2 (P246L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202665	NM_012344.4(NTSR2):c.652C>T (p.Pro218Ser)	NTSR2 (P218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467231	NM_012344.4(NTSR2):c.589C>G (p.Leu197Val)	NTSR2 (L197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238708	NM_012344.4(NTSR2):c.521T>C (p.Met174Thr)	NTSR2 (M174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202664	NM_012344.4(NTSR2):c.457C>T (p.Arg153Trp)	NTSR2 (R153W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606368	NM_012344.4(NTSR2):c.440T>C (p.Leu147Pro)	NTSR2 (L147P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493505	NM_012344.4(NTSR2):c.315C>G (p.Asp105Glu)	NTSR2 (D105E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512952	NM_012344.4(NTSR2):c.293A>G (p.His98Arg)	NTSR2 (H98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204313	NM_012344.4(NTSR2):c.288G>T (p.Trp96Cys)	NTSR2 (W96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650687	NM_012344.4(NTSR2):c.192C>A (p.Arg64=)	NTSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2457826	NM_012344.4(NTSR2):c.164A>G (p.His55Arg)	NTSR2 (H55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202662	NM_012344.4(NTSR2):c.155T>C (p.Leu52Pro)	NTSR2 (L52P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332446	NM_012344.4(NTSR2):c.134T>C (p.Leu45Pro)	NTSR2 (L45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552274	NM_012344.4(NTSR2):c.95A>T (p.Lys32Met)	NTSR2 (K32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301320	NM_012344.4(NTSR2):c.12C>A (p.Ser4Arg)	NTSR2 (S4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808113	GRCh37/hg19 2p25.1(chr2:11410615-12064438)x3	E2F6, GREB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527781	GRCh37/hg19 2p25.1(chr2:11410614-12064438)	E2F6, GREB1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 979983	GRCh37/hg19 2p25.1-24.3(chr2:11144226-12569011)x3	E2F6, SLC66A3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 979982	GRCh37/hg19 2p25.1(chr2:11410614-12054698)x3	NTSR2, GREB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 814219	GRCh37/hg19 2p25.1-24.3(chr2:11698868-13261503)x3	LPIN1, GREB1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686819	GRCh37/hg19 2p25.1(chr2:11410614-12054698)x3	E2F6, GREB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686314	GRCh37/hg19 2p25.1(chr2:11405245-12054698)x3	E2F6, GREB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 402129	GRCh37/hg19 2p25.1-24.3(chr2:11142721-12660466)x1	LINC00570, NTSR2 +6 more	Copy number loss	See cases	GUncertain significance

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Items: 63