GPRIN2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57411	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3	AGAP9, ANTXRL +112 more	Copy number gain	See cases	GPathogenic
Select item 154425	GRCh38/hg38 10q11.22(chr10:46146977-46737090)x1	ANTXRL, ANXA8L1 +12 more	Copy number loss	See cases	GBenign
Select item 150650	GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3	AGAP10, AGAP9 +35 more	Copy number gain	See cases	GBenign
Select item 149459	GRCh38/hg38 10q11.22(chr10:46146977-46737090)x1	ANTXRL, ANXA8L1 +12 more	Copy number loss	See cases	GBenign
Select item 149383	GRCh38/hg38 10q11.22(chr10:46146977-46737090)x3	AGAP10, ANTXRL +13 more	Copy number gain	See cases	GBenign
Select item 146825	GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3	AGAP9, ANTXRL +34 more	Copy number gain	See cases	GBenign
Select item 145405	GRCh38/hg38 10q11.22(chr10:46146977-46737090)x1	AGAP10, ANTXRL +13 more	Copy number loss	See cases	GBenign
Select item 144480	GRCh38/hg38 10q11.22(chr10:46146977-46737090)x3	AGAP10, ANTXRL +13 more	Copy number gain	See cases	GBenign
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 161043	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 161022	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 160988	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 154864	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 154844	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 150698	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP9, ANTXRL +33 more	Copy number gain	See cases	GBenign
Select item 150663	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 150472	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 150205	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 149982	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 149897	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 148133	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 148103	GRCh38/hg38 10q11.22(chr10:46157935-48054380)x3	AGAP10, AGAP9 +36 more	Copy number gain	See cases	GBenign
Select item 147214	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 146806	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 146805	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 146700	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 145488	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 145457	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 144354	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 144187	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP9, ANTXRL +33 more	Copy number gain	See cases	GBenign
Select item 33676	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 32820	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 32321	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 32317	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 31951	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	GDF2, GPRIN2 +34 more	Copy number loss	See cases	GBenign
Select item 154978	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP10, AGAP9 +30 more	Copy number gain	See cases	GBenign
Select item 154430	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP9, ANXA8 +29 more	Copy number gain	See cases	GBenign
Select item 153030	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP10, AGAP9 +30 more	Copy number gain	See cases	GBenign
Select item 32955	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1	AGAP9, ANXA8 +29 more	Copy number loss	See cases	GBenign
Select item 146949	GRCh38/hg38 10q11.22(chr10:46401245-46564674)x3	GPRIN2, LINC00842 +1 more	Copy number gain	See cases	GBenign
Select item 148137	GRCh38/hg38 10q11.22(chr10:46489780-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 145472	GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign/Likely benign
Select item 145409	GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3	SYT15B, ZNF488 +26 more	Copy number gain	See cases	GBenign
Select item 154420	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 154419	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign
Select item 148134	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign
Select item 145473	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 144481	GRCh38/hg38 10q11.22(chr10:46490281-48074662)x1	AGAP10, AGAP9 +28 more	Copy number loss	See cases	GLikely benign
Select item 147152	GRCh38/hg38 10q11.22(chr10:46526689-46584622)x1	GPRIN2, SYT15 +1 more	Copy number loss	See cases	GBenign
Select item 3282518	NM_001385282.1(GPRIN2):c.1325A>G (p.Gln442Arg)	GPRIN2 (Q442R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375033	NM_001385282.1(GPRIN2):c.1313G>A (p.Arg438Gln)	GPRIN2 (R462Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203913	NM_001385282.1(GPRIN2):c.1312C>T (p.Arg438Trp)	GPRIN2 (R438W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282517	NM_001385282.1(GPRIN2):c.1297C>T (p.Arg433Trp)	GPRIN2 (R433W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345883	NM_001385282.1(GPRIN2):c.1259G>A (p.Arg420Gln)	GPRIN2 (R444Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211434	NM_001385282.1(GPRIN2):c.1202A>G (p.Glu401Gly)	GPRIN2 (E425G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525920	NM_001385282.1(GPRIN2):c.1135G>A (p.Val379Met)	GPRIN2 (V379M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491944	NM_001385282.1(GPRIN2):c.1055C>A (p.Pro352Gln)	GPRIN2 (P352Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367765	NM_001385282.1(GPRIN2):c.1055C>T (p.Pro352Leu)	GPRIN2 (P376L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282521	NM_001385282.1(GPRIN2):c.1051A>G (p.Ser351Gly)	GPRIN2 (S375G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511129	NM_001385282.1(GPRIN2):c.1016C>T (p.Ala339Val)	GPRIN2 (A363V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3102024	NM_001385282.1(GPRIN2):c.929C>A (p.Thr310Asn)	GPRIN2 (T310N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610000	NM_001385282.1(GPRIN2):c.922T>C (p.Ser308Pro)	GPRIN2 (S332P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380779	NM_001385282.1(GPRIN2):c.881C>T (p.Ala294Val)	GPRIN2 (A318V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547116	NM_001385282.1(GPRIN2):c.700C>A (p.Leu234Ile)	GPRIN2 (L258I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282519	NM_001385282.1(GPRIN2):c.688C>T (p.Pro230Ser)	GPRIN2 (P254S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559080	NM_001385282.1(GPRIN2):c.655G>A (p.Glu219Lys)	GPRIN2 (E219K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476704	NM_001385282.1(GPRIN2):c.653C>T (p.Ala218Val)	GPRIN2 (A218V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102023	NM_001385282.1(GPRIN2):c.571G>A (p.Ala191Thr)	GPRIN2 (A191T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282522	NM_001385282.1(GPRIN2):c.505C>A (p.Pro169Thr)	GPRIN2 (P193T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495434	NM_001385282.1(GPRIN2):c.388A>T (p.Met130Leu)	GPRIN2 (M130L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282520	NM_001385282.1(GPRIN2):c.331G>C (p.Ala111Pro)	GPRIN2 (A135P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288682	NM_001385282.1(GPRIN2):c.305G>A (p.Gly102Asp)	GPRIN2 (G102D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102022	NM_001385282.1(GPRIN2):c.185C>T (p.Pro62Leu)	GPRIN2 (P86L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102025	NM_001385282.1(GPRIN2):c.97C>T (p.Arg33Trp)	GPRIN2 (R33W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148901	GRCh37/hg19 10q11.22(chr10:46235740-48311490)x1	AGAP10, AGAP4 +9 more	Copy number loss	not provided	GUncertain significance
Select item 3148892	GRCh37/hg19 10q11.22(chr10:46235740-48220168)x3	AGAP10, AGAP4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3148882	GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3	AGAP10, AGAP9 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic

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