ITPRIPL1[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 144357	GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3	ADRA2B, ANKRD23 +126 more	Copy number gain	See cases	GUncertain significance
Select item 148751	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3	ADRA2B, ANKRD23 +131 more	Copy number gain	See cases	GUncertain significance
Select item 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
Select item 59309	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3	ADRA2B, ANKRD23 +120 more	Copy number gain	See cases	GUncertain significance
Select item 160960	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 144712	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1	ADRA2B, ANKRD23 +119 more	Copy number loss	See cases	GPathogenic
Select item 57543	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1	ADRA2B, ANKRD23 +126 more	Copy number loss	See cases	GPathogenic
Select item 59310	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3	LOC129934346, LOC129934347 +125 more	Copy number gain	See cases	GUncertain significance
Select item 59311	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 545284	NC_000002.12:g.(?_96063558)_(97079140_?)del	ADRA2B, ANKRD23 +115 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153955	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 155075	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3	ADRA2B, ANKRD23 +123 more	Copy number gain	See cases	GLikely benign
Select item 154733	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1	KANSL3, LMAN2L +123 more	Copy number loss	See cases	GPathogenic
Select item 146017	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1	ADRA2B, ANKRD23 +114 more	Copy number loss	See cases	GPathogenic
Select item 147897	GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1	ADRA2B, ANKRD23 +120 more	Copy number loss	See cases	GUncertain significance
Select item 57434	GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1	ADRA2B, ANKRD23 +121 more	Copy number loss	See cases	GPathogenic
Select item 154747	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 2458395	NM_001008949.3(ITPRIPL1):c.125G>A (p.Arg42Gln)	ITPRIPL1 (R34Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392572	NM_001008949.3(ITPRIPL1):c.151G>A (p.Glu51Lys)	ITPRIPL1 (E59K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111952	NM_001008949.3(ITPRIPL1):c.167A>C (p.Glu56Ala)	ITPRIPL1 (E56A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538852	NM_001008949.3(ITPRIPL1):c.194C>A (p.Ala65Asp)	ITPRIPL1 (A73D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538853	NM_001008949.3(ITPRIPL1):c.206G>C (p.Arg69Thr)	ITPRIPL1 (R77T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111953	NM_001008949.3(ITPRIPL1):c.276G>C (p.Met92Ile)	ITPRIPL1 (M100I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305440	NM_001008949.3(ITPRIPL1):c.387G>C (p.Gln129His)	ITPRIPL1 (Q129H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111954	NM_001008949.3(ITPRIPL1):c.427G>A (p.Glu143Lys)	ITPRIPL1 (E151K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302658	NM_001008949.3(ITPRIPL1):c.718C>G (p.Pro240Ala)	ITPRIPL1 (P232A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525043	NM_001008949.3(ITPRIPL1):c.743T>C (p.Met248Thr)	ITPRIPL1 (M240T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403579	NM_001008949.3(ITPRIPL1):c.766C>T (p.Pro256Ser)	ITPRIPL1 (P264S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111955	NM_001008949.3(ITPRIPL1):c.779G>A (p.Arg260His)	ITPRIPL1 (R260H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205396	NM_001008949.3(ITPRIPL1):c.782G>A (p.Arg261His)	ITPRIPL1 (R253H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111956	NM_001008949.3(ITPRIPL1):c.811T>C (p.Cys271Arg)	ITPRIPL1 (C271R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471403	NM_001008949.3(ITPRIPL1):c.826G>A (p.Glu276Lys)	ITPRIPL1 (E268K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558108	NM_001008949.3(ITPRIPL1):c.848T>C (p.Leu283Pro)	ITPRIPL1 (L283P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589286	NM_001008949.3(ITPRIPL1):c.967C>T (p.Arg323Trp)	ITPRIPL1 (R323W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539633	NM_001008949.3(ITPRIPL1):c.968G>A (p.Arg323Gln)	ITPRIPL1 (R323Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111946	NM_001008949.3(ITPRIPL1):c.1006A>G (p.Lys336Glu)	ITPRIPL1 (K336E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458043	NM_001008949.3(ITPRIPL1):c.1015T>C (p.Phe339Leu)	ITPRIPL1 (F339L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282778	NM_001008949.3(ITPRIPL1):c.1017T>G (p.Phe339Leu)	ITPRIPL1 (F331L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235983	NM_001008949.3(ITPRIPL1):c.1070G>A (p.Arg357His)	ITPRIPL1 (R349H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209840	NM_001008949.3(ITPRIPL1):c.1070G>C (p.Arg357Pro)	ITPRIPL1 (R357P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322719	NM_001008949.3(ITPRIPL1):c.1078C>T (p.Arg360Cys)	ITPRIPL1 (R352C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306204	NM_001008949.3(ITPRIPL1):c.1095C>G (p.His365Gln)	ITPRIPL1 (H365Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111947	NM_001008949.3(ITPRIPL1):c.1115G>A (p.Arg372Gln)	ITPRIPL1 (R380Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228418	NM_001008949.3(ITPRIPL1):c.1190C>T (p.Ser397Phe)	ITPRIPL1 (S397F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539691	NM_001008949.3(ITPRIPL1):c.1202G>C (p.Cys401Ser)	ITPRIPL1 (C409S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111948	NM_001008949.3(ITPRIPL1):c.1231C>T (p.Arg411Cys)	ITPRIPL1 (R419C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226358	NM_001008949.3(ITPRIPL1):c.1232G>A (p.Arg411His)	ITPRIPL1 (R403H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460292	NM_001008949.3(ITPRIPL1):c.1245G>C (p.Glu415Asp)	ITPRIPL1 (E415D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111949	NM_001008949.3(ITPRIPL1):c.1249A>T (p.Thr417Ser)	ITPRIPL1 (T417S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111950	NM_001008949.3(ITPRIPL1):c.1258C>G (p.Leu420Val)	ITPRIPL1 (L412V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161542	NM_001008949.3(ITPRIPL1):c.1315G>A (p.Ala439Thr)	ITPRIPL1 (A431T +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2272972	NM_001008949.3(ITPRIPL1):c.1448G>A (p.Arg483His)	ITPRIPL1 (R475H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205813	NM_001008949.3(ITPRIPL1):c.1471C>T (p.His491Tyr)	ITPRIPL1 (H491Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111951	NM_001008949.3(ITPRIPL1):c.1484T>C (p.Ile495Thr)	ITPRIPL1 (I503T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242291	GRCh37/hg19 2q11.1-11.2(chr2:96555654-98024790)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GUncertain significance
Select item 3062623	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	NCAPH, SEMA4C +19 more	Copy number loss	not provided	GPathogenic
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685858	GRCh37/hg19 2q11.1-11.2(chr2:96732520-97671333)x3	ADRA2B, ANKRD23 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671593	Single allele	ADRA2B, ANKRD23 +20 more	Deletion	not provided	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
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 1443631	NC_000002.11:g.(?_96780545)_(97475254_?)dup	DUSP2, LMAN2L +12 more	Duplication	not provided	GUncertain significance
Select item 1340229	GRCh37/hg19 2q11.1-11.2(chr2:96544603-98025634)x3	ADRA2B, ANKRD23 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1047904	GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592)	CIAO1, CNNM3 +19 more	Copy number loss	Cleft lip +1 more	GPathogenic
Select item 997821	Single allele	ANKRD36B, ANKRD39 +20 more	Deletion	Intellectual disability	GPathogenic
Select item 980467	GRCh37/hg19 2q11.1-11.2(chr2:96544602-97706860)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 980466	GRCh37/hg19 2q11.1-11.2(chr2:96421161-97765561)x1	ASTL, CIAO1 +20 more	Copy number loss	not provided	GUncertain significance
Select item 980465	GRCh37/hg19 2q11.1-11.2(chr2:96515883-98162176)x3	ARID5A, ASTL +22 more	Copy number gain	not provided	GUncertain significance
Select item 929377	GRCh37/hg19 2q11.1-11.2(chr2:96737083-98193473)x3	CIAO1, CNNM3 +20 more	Copy number gain	See cases	GUncertain significance
Select item 929311	GRCh37/hg19 2q11.1-11.2(chr2:96737083-98261802)x1	CNNM3, CNNM4 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 831315	NC_000002.11:g.(?_96780545)_(96994037_?)dup	ADRA2B, ASTL +6 more	Duplication	not provided	GUncertain significance
Select item 814285	GRCh37/hg19 2q11.2(chr2:96939073-97086456)x1	NCAPH, CIAO1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814284	GRCh37/hg19 2q11.1-11.2(chr2:96732519-98118115)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814283	GRCh37/hg19 2q11.1-11.2(chr2:96712139-98254657)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 687873	GRCh37/hg19 2q11.1-11.2(chr2:96552903-98118115)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GPathogenic
Select item 685047	GRCh37/hg19 2q11.1-11.2(chr2:96515883-98025634)x3	ASTL, CIAO1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 638119	GRCh37/hg19 2q11.1-11.2(chr2:96747466-98193473)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562643	GRCh37/hg19 2q11.1-11.2(chr2:96544602-98138405)x1	ADRA2B, ANKRD23 +22 more	Copy number loss	not provided	GUncertain significance
Select item 562641	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98258828)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443435	GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3	ADRA2B, ANKRD23 +21 more	Copy number gain	See cases	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 443169	GRCh37/hg19 2q11.1-11.2(chr2:96712139-98249638)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	See cases	GUncertain significance
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 442814	GRCh37/hg19 2q11.1-11.2(chr2:96732519-98225552)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	See cases	GLikely benign
Select item 441953	GRCh37/hg19 2q11.1-11.2(chr2:96097383-97679933)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	See cases	GUncertain significance
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 395658	GRCh37/hg19 2q11.1-11.2(chr2:96778661-97757978)x3	ADRA2B, ANKRD23 +18 more	Copy number gain	See cases	GUncertain significance
Select item 395484	GRCh37/hg19 2q11.1-11.2(chr2:96698012-97757442)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	See cases	GUncertain significance
Select item 394256	GRCh37/hg19 2q11.2(chr2:96956288-96994024)x3	ITPRIPL1, SNRNP200	Copy number gain	See cases	GUncertain significance
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic

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Items: 100