ACVR2A[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	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 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	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 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 150047	GRCh38/hg38 2q22.3-23.1(chr2:147680433-148220153)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 57146	GRCh38/hg38 2q22.3-23.1(chr2:147713771-148177277)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 47