FAHD2B[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 74

	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 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 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 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 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 3091613	NM_001320848.2(FAHD2B):c.883A>G (p.Lys295Glu)	FAHD2B (K295E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276035	NM_001320848.2(FAHD2B):c.860G>A (p.Arg287Lys)	FAHD2B (R287K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339809	NM_001320848.2(FAHD2B):c.847G>A (p.Val283Ile)	FAHD2B (V283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277069	NM_001320848.2(FAHD2B):c.818A>C (p.Asp273Ala)	FAHD2B (D273A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256910	NM_001320848.2(FAHD2B):c.748A>G (p.Asn250Asp)	FAHD2B (N250D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277071	NM_001320848.2(FAHD2B):c.716T>C (p.Val239Ala)	FAHD2B (V239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384639	NM_001320848.2(FAHD2B):c.713G>A (p.Arg238Gln)	FAHD2B (R238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091612	NM_001320848.2(FAHD2B):c.693C>G (p.His231Gln)	FAHD2B (H231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091611	NM_001320848.2(FAHD2B):c.602A>G (p.Asn201Ser)	FAHD2B (N201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278720	NM_001320848.2(FAHD2B):c.598C>T (p.Arg200Cys)	FAHD2B (R200C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242138	NM_001320848.2(FAHD2B):c.523G>A (p.Ala175Thr)	FAHD2B (A175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277070	NM_001320848.2(FAHD2B):c.451C>T (p.Pro151Ser)	FAHD2B (P151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091609	NM_001320848.2(FAHD2B):c.439G>C (p.Val147Leu)	FAHD2B (V147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091608	NM_001320848.2(FAHD2B):c.376G>A (p.Val126Met)	FAHD2B (V126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343010	NM_001320848.2(FAHD2B):c.310T>C (p.Trp104Arg)	FAHD2B (W104R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264052	NM_001320848.2(FAHD2B):c.248C>T (p.Ala83Val)	FAHD2B (A83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266614	NM_001320848.2(FAHD2B):c.241A>G (p.Arg81Gly)	FAHD2B (R81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210463	NM_001320848.2(FAHD2B):c.238G>A (p.Ala80Thr)	FAHD2B (A80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309884	NM_001320848.2(FAHD2B):c.175G>T (p.Asp59Tyr)	FAHD2B (D59Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277067	NM_001320848.2(FAHD2B):c.161A>G (p.Asn54Ser)	FAHD2B (N54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277066	NM_001320848.2(FAHD2B):c.76G>A (p.Asp26Asn)	FAHD2B (D26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532382	NM_001320848.2(FAHD2B):c.23G>A (p.Arg8Lys)	FAHD2B (R8K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561743	NM_001320848.2(FAHD2B):c.4C>G (p.Leu2Val)	FAHD2B (L2V)	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	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 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 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 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 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 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 394618	GRCh37/hg19 2q11.2(chr2:97750013-97757978)x3	FAHD2B	Copy number gain	See cases	GBenign
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 74