ACVR1C[gene] - ClinVar

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

Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	LOC132088765, LOC132088766 +147 more	Copy number loss	See cases	GPathogenic
Select item 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	ACVR1, ACVR1C +74 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 236378	Single allele	ACVR1C, LOC129934963 +61 more	Deletion	Autism spectrum disorder	GLikely pathogenic
Select item 154128	GRCh38/hg38 2q24.1(chr2:157418173-158277521)x1	ACVR1, ACVR1C +26 more	Copy number loss	See cases	GUncertain significance
Select item 3049447	NM_145259.3(ACVR1C):c.1459G>A (p.Val487Ile)	ACVR1C (V330I +3 more)	Single nucleotide variant (missense variant)	ACVR1C-related condition	GBenign
Select item 1282954	NM_145259.3(ACVR1C):c.1444A>G (p.Ile482Val)	ACVR1C (I325V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1227326	NM_145259.3(ACVR1C):c.1357-71G>A	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265128	NM_145259.3(ACVR1C):c.1357-211C>T	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222596	NM_145259.3(ACVR1C):c.1356+272A>G	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265317	NM_145259.3(ACVR1C):c.1356+166A>G	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263226	NM_145259.3(ACVR1C):c.1356+6G>C	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 713452	NM_145259.3(ACVR1C):c.1350T>C (p.Ser450=)	ACVR1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1295039	NM_145259.3(ACVR1C):c.1226-50T>C	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2381623	NM_145259.3(ACVR1C):c.1222G>A (p.Gly408Arg)	ACVR1C (G251R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1272276	NM_145259.3(ACVR1C):c.1100+180C>G	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2384807	NM_145259.3(ACVR1C):c.1063A>G (p.Ile355Val)	ACVR1C (I355V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039145	NM_145259.3(ACVR1C):c.1020G>A (p.Ala340=)	ACVR1C	Single nucleotide variant (synonymous variant)	ACVR1C-related condition	GBenign
Select item 2340436	NM_145259.3(ACVR1C):c.994A>G (p.Lys332Glu)	ACVR1C (K332E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1260053	NM_145259.3(ACVR1C):c.944-136A>T	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252696	NM_145259.3(ACVR1C):c.944-140C>A	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231031	NM_145259.3(ACVR1C):c.944-203C>T	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230041	NM_145259.3(ACVR1C):c.943+221dup	ACVR1C	Duplication (intron variant)	not provided	GBenign
Select item 1235792	NM_145259.3(ACVR1C):c.943+241_943+242del	ACVR1C	Deletion (intron variant)	not provided	GBenign
Select item 1267871	NM_145259.3(ACVR1C):c.943+151G>T	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287400	NM_145259.3(ACVR1C):c.943+49G>A	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3039871	NM_145259.3(ACVR1C):c.943+4T>C	ACVR1C	Single nucleotide variant (intron variant)	ACVR1C-related condition	GBenign
Select item 2540331	NM_145259.3(ACVR1C):c.930T>G (p.Ile310Met)	ACVR1C (I153M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403551	NM_145259.3(ACVR1C):c.887C>T (p.Ala296Val)	ACVR1C (A139V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206204	NM_145259.3(ACVR1C):c.878T>G (p.Ile293Ser)	ACVR1C (I293S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736643	NM_145259.3(ACVR1C):c.843T>C (p.Tyr281=)	ACVR1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783343	NM_145259.3(ACVR1C):c.795A>G (p.Gln265=)	ACVR1C	Single nucleotide variant (synonymous variant)	ACVR1C-related condition +1 more	GBenign
Select item 2332691	NM_145259.3(ACVR1C):c.777T>G (p.Asp259Glu)	ACVR1C (D102E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1284105	NM_145259.3(ACVR1C):c.776-13A>G	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268544	NM_145259.3(ACVR1C):c.775+309dup	ACVR1C	Duplication (intron variant)	not provided	GBenign
Select item 1288368	NM_145259.3(ACVR1C):c.775+328_775+332del	ACVR1C	Deletion (intron variant)	not provided	GBenign
Select item 1248965	NM_145259.3(ACVR1C):c.775+332del	ACVR1C	Deletion (intron variant)	not provided	GBenign
Select item 2618739	NM_145259.3(ACVR1C):c.734G>A (p.Arg245Gln)	ACVR1C (R245Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 775762	NM_145259.3(ACVR1C):c.600A>C (p.Ile200=)	ACVR1C	Single nucleotide variant (synonymous variant +1 more)	ACVR1C-related condition +1 more	GBenign
Select item 3044547	NM_145259.3(ACVR1C):c.584T>C (p.Ile195Thr)	ACVR1C (I115T +2 more)	Single nucleotide variant (missense variant +1 more)	ACVR1C-related condition	GLikely benign
Select item 1225542	NM_145259.3(ACVR1C):c.544+63A>G	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2595750	NM_145259.3(ACVR1C):c.490G>C (p.Gly164Arg)	ACVR1C (G114R +1 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483146	NM_145259.3(ACVR1C):c.463C>G (p.Leu155Val)	ACVR1C (L105V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3042634	NM_145259.3(ACVR1C):c.450T>C (p.Asn150=)	ACVR1C	Single nucleotide variant (synonymous variant +1 more)	ACVR1C-related condition	GBenign
Select item 780099	NM_145259.3(ACVR1C):c.448A>C (p.Asn150His)	ACVR1C (N150H +1 more)	Single nucleotide variant (missense variant +1 more)	ACVR1C-related condition +1 more	GBenign
Select item 2322337	NM_145259.3(ACVR1C):c.404C>T (p.Ala135Val)	ACVR1C (A85V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481155	NM_145259.3(ACVR1C):c.313A>T (p.Asn105Tyr)	ACVR1C (N105Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1262268	NM_145259.3(ACVR1C):c.305-34T>C	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769232	NM_145259.3(ACVR1C):c.114= (p.Phe38=)	ACVR1C	Variation (no sequence alteration)	not provided	GBenign
Select item 1262960	NM_145259.3(ACVR1C):c.73+9C>A	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3037015	NM_145259.3(ACVR1C):c.21A>G (p.Ser7=)	ACVR1C, LOC129934971	Single nucleotide variant (synonymous variant)	ACVR1C-related condition	GLikely benign
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	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 1340408	GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1	ACVR1, ACVR1C +9 more	Copy number loss	not provided	GPathogenic
Select item 1340352	GRCh37/hg19 2q23.3-24.1(chr2:154328530-158759642)x1	ACVR1, ACVR1C +8 more	Copy number loss	not provided	GPathogenic
Select item 1339787	GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3	ACVR1, ACVR1C +17 more	Copy number gain	not provided	Gnot provided
Select item 980600	GRCh37/hg19 2q24.1(chr2:156696086-159450561)x1	ACVR1C, GALNT5 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 816489	GRCh37/hg19 2q24.1(chr2:157873775-158514510)x3	CYTIP, ACVR1C +2 more	Copy number gain	See cases	GUncertain significance
Select item 814332	GRCh37/hg19 2q24.1(chr2:157117939-158422574)x1	GALNT5, CYTIP +4 more	Copy number loss	not provided	GLikely pathogenic
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 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
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 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 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: 68