ClinVar for Gene (Select 431705) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319108	NM_001002036.4(ASTL):c.402G>T (p.Arg134Ser)	ASTL (R134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319097	NM_001002036.4(ASTL):c.669C>G (p.Ser223Arg)	ASTL (S223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319086	NM_001002036.4(ASTL):c.773G>A (p.Ser258Asn)	ASTL (S258N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319075	NM_001002036.4(ASTL):c.1042T>C (p.Ser348Pro)	ASTL (S348P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319057	NM_001002036.4(ASTL):c.89G>T (p.Cys30Phe)	ASTL (C30F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319047	NM_001002036.4(ASTL):c.1055A>G (p.Lys352Arg)	ASTL (K352R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319029	NM_001002036.4(ASTL):c.1235G>A (p.Ser412Asn)	ASTL (S412N)	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 3130537	NM_001002036.4(ASTL):c.89G>A (p.Cys30Tyr)	ASTL (C30Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130535	NM_001002036.4(ASTL):c.70G>C (p.Ala24Pro)	ASTL (A24P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130534	NM_001002036.4(ASTL):c.530G>A (p.Arg177Gln)	ASTL (R177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130532	NM_001002036.4(ASTL):c.340G>A (p.Glu114Lys)	ASTL (E114K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130531	NM_001002036.4(ASTL):c.10G>A (p.Val4Ile)	ASTL (V4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130530	NM_001002036.4(ASTL):c.1036T>C (p.Trp346Arg)	ASTL (W346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130529	NM_001002036.4(ASTL):c.1003G>A (p.Val335Ile)	ASTL (V335I)	Single nucleotide variant (missense variant)	not specified	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 2651139	NM_001002036.4(ASTL):c.610C>T (p.Arg204Cys)	ASTL (R204C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2651138	NM_001002036.4(ASTL):c.912G>A (p.Pro304=)	ASTL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620418	NM_001002036.4(ASTL):c.49T>A (p.Leu17Met)	ASTL, LOC129934309 (L17M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612443	NM_001002036.4(ASTL):c.691G>A (p.Asp231Asn)	ASTL (D231N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538347	NM_001002036.4(ASTL):c.1274T>A (p.Phe425Tyr)	ASTL (F425Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492414	NM_001002036.4(ASTL):c.911C>A (p.Pro304Gln)	ASTL (P304Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487386	NM_001002036.4(ASTL):c.235A>G (p.Ile79Val)	ASTL (I79V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457080	NM_001002036.4(ASTL):c.911C>T (p.Pro304Leu)	ASTL (P304L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2402547	NM_001002036.4(ASTL):c.167C>T (p.Pro56Leu)	ASTL (P56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400296	NM_001002036.4(ASTL):c.953C>T (p.Ala318Val)	ASTL (A318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393356	NM_001002036.4(ASTL):c.821G>A (p.Arg274Gln)	ASTL (R274Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384972	NM_001002036.4(ASTL):c.475C>T (p.Arg159Cys)	ASTL (R159C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371734	NM_001002036.4(ASTL):c.449T>C (p.Met150Thr)	ASTL (M150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370828	NM_001002036.4(ASTL):c.151G>A (p.Gly51Arg)	ASTL (G51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366236	NM_001002036.4(ASTL):c.71C>T (p.Ala24Val)	ASTL (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365103	NM_001002036.4(ASTL):c.925C>A (p.Leu309Met)	ASTL (L309M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352231	NM_001002036.4(ASTL):c.838G>A (p.Gly280Ser)	ASTL (G280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346631	NM_001002036.4(ASTL):c.1018G>A (p.Gly340Arg)	ASTL (G340R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316180	NM_001002036.4(ASTL):c.359T>C (p.Ile120Thr)	ASTL (I120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305618	NM_001002036.4(ASTL):c.950C>T (p.Ser317Leu)	ASTL (S317L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273742	NM_001002036.4(ASTL):c.159G>C (p.Lys53Asn)	ASTL (K53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271833	NM_001002036.4(ASTL):c.902G>A (p.Ser301Asn)	ASTL (S301N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259910	NM_001002036.4(ASTL):c.625G>C (p.Glu209Gln)	ASTL (E209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210158	NM_001002036.4(ASTL):c.628A>G (p.Ile210Val)	ASTL (I210V)	Single nucleotide variant (missense variant)	not specified	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 1326900	NM_001002036.4(ASTL):c.456-1G>A	ASTL	Single nucleotide variant (splice acceptor variant)	Oocyte maturation defect 11	GPathogenic
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 980464	GRCh37/hg19 2q11.1-11.2(chr2:96630256-96836549)x3	ANKRD36C, DUSP2 +3 more	Copy number gain	not provided	GLikely benign
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 791863	NM_001002036.4(ASTL):c.872G>A (p.Arg291Lys)	ASTL (R291K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780829	NM_001002036.4(ASTL):c.1282del (p.Met428fs)	ASTL (M428fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 708461	NM_001002036.4(ASTL):c.465G>A (p.Ser155=)	ASTL	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 545284	NC_000002.12:g.(?_96063558)_(97079140_?)del	ADRA2B, ANKRD23 +115 more	Deletion	Schizophrenia	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
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 155075	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3	ADRA2B, ANKRD23 +123 more	Copy number gain	See cases	GLikely benign
Select item 154747	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 154733	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1	KANSL3, LMAN2L +123 more	Copy number loss	See cases	GPathogenic
Select item 153955	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 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 148751	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3	ADRA2B, ANKRD23 +131 more	Copy number gain	See cases	GUncertain significance
Select item 147897	GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1	ADRA2B, ANKRD23 +120 more	Copy number loss	See cases	GUncertain significance
Select item 146017	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1	ADRA2B, ANKRD23 +114 more	Copy number loss	See cases	GPathogenic
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 144357	GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3	ADRA2B, ANKRD23 +126 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

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