18063[HGNC] - ClinVar

Search results

Items: 98

	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 2521874	NM_020151.4(STARD7):c.1097G>A (p.Arg366Gln)	STARD7 (R366Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1050311	NM_020151.4(STARD7):c.1045G>T (p.Ala349Ser)	STARD7 (A248S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291497	NM_020151.4(STARD7):c.937G>C (p.Asp313His)	STARD7 (D212H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170981	NM_020151.4(STARD7):c.913T>C (p.Trp305Arg)	STARD7 (W204R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346566	NM_020151.4(STARD7):c.899G>A (p.Arg300His)	STARD7 (R300H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204603	NM_020151.4(STARD7):c.887C>T (p.Thr296Met)	STARD7 (T195M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596734	NM_020151.4(STARD7):c.821G>A (p.Arg274His)	STARD7 (R173H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553187	NM_020151.4(STARD7):c.820C>T (p.Arg274Cys)	STARD7 (R173C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399878	NM_020151.4(STARD7):c.813G>A (p.Met271Ile)	STARD7 (M271I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058470	NM_020151.4(STARD7):c.796del (p.Ser266fs)	STARD7 (S165fs +1 more)	Deletion (frameshift variant)	STARD7-related disorder	GUncertain significance
Select item 2472963	NM_020151.4(STARD7):c.784G>A (p.Val262Ile)	STARD7 (V161I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608970	NM_020151.4(STARD7):c.729G>A (p.Met243Ile)	STARD7 (M243I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170980	NM_020151.4(STARD7):c.665C>T (p.Pro222Leu)	STARD7 (P121L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536037	NM_020151.4(STARD7):c.622A>T (p.Ser208Cys)	STARD7 (S208C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170978	NM_020151.4(STARD7):c.569A>G (p.Lys190Arg)	STARD7 (K190R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2436504	NM_020151.4(STARD7):c.542A>G (p.Asn181Ser)	STARD7 (N181S +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 2 +1 more	GUncertain significance
Select item 3170977	NM_020151.4(STARD7):c.508A>G (p.Thr170Ala)	STARD7 (T170A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397638	NM_020151.4(STARD7):c.464G>A (p.Arg155His)	STARD7 (R155H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550046	NM_020151.4(STARD7):c.453G>T (p.Lys151Asn)	STARD7 (K50N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701639	NM_020151.4(STARD7):c.418C>T (p.Arg140Cys)	STARD7 (R140C +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 2	GUncertain significance
Select item 2309943	NM_020151.4(STARD7):c.410A>G (p.Lys137Arg)	STARD7 (K137R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342562	NM_020151.4(STARD7):c.361C>T (p.Pro121Ser)	STARD7 (P121S +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 2	GUncertain significance
Select item 3323109	NM_020151.4(STARD7):c.332T>C (p.Met111Thr)	STARD7 (M10T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323108	NM_020151.4(STARD7):c.328A>G (p.Asn110Asp)	STARD7 (N110D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 635132	NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]	STARD7	Microsatellite	Epilepsy, familial adult myoclonic, 2	GPathogenic
Select item 694447	NC_000002.12:g.96197067AAAAT[(n)]/AAATG[(n)]	STARD7	Microsatellite	Epilepsy, familial adult myoclonic, 2	GPathogenic
Select item 3170976	NM_020151.4(STARD7):c.259G>A (p.Glu87Lys)	STARD7 (E87K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320980	NM_020151.4(STARD7):c.256G>C (p.Asp86His)	STARD7 (D86H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262581	NM_020151.4(STARD7):c.233C>T (p.Ala78Val)	STARD7 (A78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1696639	NM_020151.4(STARD7):c.175G>T (p.Gly59Cys)	LOC129934328, STARD7 (G59C)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial adult myoclonic, 2	GUncertain significance
Select item 2593896	NM_020151.4(STARD7):c.146A>G (p.Tyr49Cys)	LOC129934328, STARD7 (Y49C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3026810	NM_020151.4(STARD7):c.123C>T (p.Ile41=)	LOC129934328, STARD7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3341624	NM_020151.4(STARD7):c.77A>G (p.Gln26Arg)	LOC129934328, STARD7 (Q26R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3170979	NM_020151.4(STARD7):c.59T>C (p.Leu20Pro)	LOC129934328, STARD7 (L20P)	Single nucleotide variant (missense variant +1 more)	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 3062352	Single allele	ADRA2B, ASTL +4 more	Deletion	Pheochromocytoma	GUncertain significance
Select item 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	ADRA2B, ANKRD23 +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 1807978	GRCh37/hg19 2q11.1-11.2(chr2:96628608-96981369)x3	ADRA2B, ANKRD36C +7 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 1443631	NC_000002.11:g.(?_96780545)_(97475254_?)dup	ADRA2B, ARID5A +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 831270	NC_000002.11:g.(?_96780545)_(96971175_?)dup	ADRA2B, ASTL +5 more	Duplication	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 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: 98