ClinVar for Gene (Select 92) - ClinVar

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

Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3143100	NM_001616.5(ACVR2A):c.1483G>T (p.Val495Leu)	ACVR2A (V387L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143088	NM_001616.5(ACVR2A):c.146C>T (p.Pro49Leu)	ACVR2A (P49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062637	GRCh37/hg19 2q22.3-23.1(chr2:148646132-148829749)x1	ACVR2A, MBD5 +1 more	Copy number loss	not specified	GPathogenic
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684742	GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)x1	ACVR2A, ARL5A +13 more	Copy number loss	not provided	GPathogenic
Select item 2618834	NM_001616.5(ACVR2A):c.895G>C (p.Gly299Arg)	ACVR2A (G191R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599148	NM_001616.5(ACVR2A):c.1481T>C (p.Ile494Thr)	ACVR2A (I386T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518164	NM_001616.5(ACVR2A):c.667A>G (p.Ile223Val)	ACVR2A (I115V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480429	NM_001616.5(ACVR2A):c.281A>G (p.Lys94Arg)	ACVR2A (K94R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395539	NM_001616.5(ACVR2A):c.484A>G (p.Arg162Gly)	ACVR2A (R162G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328531	NM_001616.5(ACVR2A):c.392C>G (p.Thr131Arg)	ACVR2A (T131R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317172	NM_001616.5(ACVR2A):c.995A>C (p.Asn332Thr)	ACVR2A (N332T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272936	NM_001616.5(ACVR2A):c.781G>A (p.Val261Met)	ACVR2A (V261M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247987	NM_001616.5(ACVR2A):c.1088G>A (p.Arg363Gln)	ACVR2A (R255Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1526909	GRCh37/hg19 2q22.3(chr2:148659466-148698781)	ACVR2A, ORC4	Copy number loss	not specified	GUncertain significance
Select item 1526908	GRCh37/hg19 2q22.3-23.1(chr2:146803587-149568729)	ACVR2A, EPC2 +2 more	Copy number loss	not specified	GPathogenic
Select item 1526906	GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)	ACVR2A, ARHGAP15 +17 more	Copy number loss	not specified	GPathogenic
Select item 1341063	GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3	ACVR2A, ARHGAP15 +17 more	Copy number gain	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	ACVR2A, ARHGAP15 +28 more	Copy number gain	Global developmental delay +2 more	GPathogenic
Select item 980593	GRCh37/hg19 2q22.3-23.1(chr2:148679076-148894267)x1	ACVR2A, MBD5 +1 more	Copy number loss	not provided	GPathogenic
Select item 814315	GRCh37/hg19 2q22.3-23.1(chr2:148646132-148959158)x1	MBD5, ACVR2A +1 more	Copy number loss	not provided	GPathogenic
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 684464	Single allele	ACVR2A, MBD5 +1 more	Deletion	Chromosome 2q23.1 deletion syndrome	Gnot provided
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 442694	GRCh37/hg19 2q22.3-23.3(chr2:146913477-151531586)x1	ACVR2A, EPC2 +6 more	Copy number loss	See cases	GPathogenic
Select item 417821	Single allele	ACVR2A, EPC2 +2 more	Duplication	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 417820	Single allele	ACVR2A, ORC4	Duplication	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 403692	Single allele	ORC4, KIF5C +3 more	Duplication	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 403691	Single allele	GTDC1, KYNU +7 more	Duplication	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 403690	Single allele	ACVR2A, MBD5 +1 more	Deletion	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 403689	Single allele	ACVR2A, MBD5 +1 more	Deletion	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 403688	Single allele	ACVR2A, MBD5 +1 more	Deletion	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 403687	Single allele	ACVR2A, MBD5 +1 more	Deletion	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 403686	Single allele	ACVR2A, MBD5 +1 more	Deletion	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 153625	GRCh38/hg38 2q22.3-23.1(chr2:147732899-148156266)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GPathogenic
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 150047	GRCh38/hg38 2q22.3-23.1(chr2:147680433-148220153)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 146065	GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3	ACVR2A, EPC2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60212	GRCh38/hg38 2q22.2-22.3(chr2:141666537-147845662)x1	ACVR2A, ARHGAP15 +57 more	Copy number loss	See cases	GPathogenic
Select item 57146	GRCh38/hg38 2q22.3-23.1(chr2:147713771-148177277)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 47