ClinVar for Gene (Select 653192) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2685856	GRCh37/hg19 2q11.1(chr2:95341687-96259199)x3	FAHD2A, KCNIP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2406044	NM_001164464.2(TRIM43B):c.484A>G (p.Arg162Gly)	TRIM43B (R162G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405180	NM_001164464.2(TRIM43B):c.644G>A (p.Ser215Asn)	TRIM43B (S215N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348065	NM_001164464.2(TRIM43B):c.723G>T (p.Glu241Asp)	TRIM43B (E241D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2238734	NM_001164464.2(TRIM43B):c.172C>A (p.Pro58Thr)	TRIM43B (P58T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234976	NM_001164464.2(TRIM43B):c.498C>A (p.Phe166Leu)	TRIM43B (F166L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232211	NM_001164464.2(TRIM43B):c.364G>A (p.Gly122Arg)	TRIM43B (G122R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809050	GRCh37/hg19 2q11.1(chr2:95777121-96248568)x3	FAHD2A, KCNIP3 +5 more	Copy number gain	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 1526874	GRCh37/hg19 2q11.1(chr2:95341387-96735978)	ANKRD36C, FAHD2A +10 more	Copy number loss	not specified	GUncertain significance
Select item 1340501	GRCh37/hg19 2q11.1(chr2:95341686-96193214)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 813848	GRCh37/hg19 2q11.1(chr2:95945437-96259086)x3	ANKRD36C, FAHD2A +5 more	Copy number gain	Autism +1 more	GUncertain significance
Select item 687921	GRCh37/hg19 2q11.1(chr2:95476818-96193825)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562639	GRCh37/hg19 2q11.1(chr2:95341387-96719347)x1	ANKRD36C, FAHD2A +10 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	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 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
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 394292	GRCh37/hg19 2q11.1(chr2:95944627-96147433)x3	FAHD2A, KCNIP3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	ACTR1B, ADRA2B +53 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 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 148297	GRCh38/hg38 2q11.1(chr2:95134069-95493527)x1	FAHD2A, KCNIP3 +12 more	Copy number loss	See cases	GUncertain significance
Select item 148257	GRCh38/hg38 2q11.1(chr2:94751190-95675040)x3	FAHD2A, FAM95A +26 more	Copy number gain	See cases	GLikely benign
Select item 144839	GRCh38/hg38 2q11.1(chr2:95434253-95701649)x3	LINC03052, LOC129934297 +3 more	Copy number gain	See cases	GUncertain significance
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 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32