ACVR1C[gene] - ClinVar

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Items: 75

	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	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	LOC129934943, LOC129934944 +74 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +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 3143059	NM_145259.3(ACVR1C):c.1471T>A (p.Cys491Ser)	ACVR1C (C491S +3 more)	Single nucleotide variant (missense variant)	not specified	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 disorder	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 3143056	NM_145259.3(ACVR1C):c.1421C>G (p.Thr474Ser)	ACVR1C (T394S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143053	NM_145259.3(ACVR1C):c.1383G>A (p.Met461Ile)	ACVR1C (M304I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	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)	not specified	GUncertain significance
Select item 3039145	NM_145259.3(ACVR1C):c.1020G>A (p.Ala340=)	ACVR1C	Single nucleotide variant (synonymous variant)	ACVR1C-related disorder	GBenign
Select item 2340436	NM_145259.3(ACVR1C):c.994A>G (p.Lys332Glu)	ACVR1C (K332E +3 more)	Single nucleotide variant (missense variant)	not specified	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 disorder	GBenign
Select item 2540331	NM_145259.3(ACVR1C):c.930T>G (p.Ile310Met)	ACVR1C (I153M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403551	NM_145259.3(ACVR1C):c.887C>T (p.Ala296Val)	ACVR1C (A139V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206204	NM_145259.3(ACVR1C):c.878T>G (p.Ile293Ser)	ACVR1C (I293S +3 more)	Single nucleotide variant (missense variant)	not specified	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)	not provided	GBenign
Select item 2332691	NM_145259.3(ACVR1C):c.777T>G (p.Asp259Glu)	ACVR1C (D102E +3 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 775762	NM_145259.3(ACVR1C):c.600A>C (p.Ile200=)	ACVR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	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 disorder	GLikely benign
Select item 3143071	NM_145259.3(ACVR1C):c.566G>A (p.Arg189Lys)	ACVR1C (R109K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1225542	NM_145259.3(ACVR1C):c.544+63A>G	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3143068	NM_145259.3(ACVR1C):c.511A>G (p.Ile171Val)	ACVR1C (I121V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595750	NM_145259.3(ACVR1C):c.490G>C (p.Gly164Arg)	ACVR1C (G114R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3042634	NM_145259.3(ACVR1C):c.450T>C (p.Asn150=)	ACVR1C	Single nucleotide variant (synonymous variant +1 more)	ACVR1C-related disorder	GBenign
Select item 780099	NM_145259.3(ACVR1C):c.448A>C (p.Asn150His)	ACVR1C (N150H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2322337	NM_145259.3(ACVR1C):c.404C>T (p.Ala135Val)	ACVR1C (A85V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 1262268	NM_145259.3(ACVR1C):c.305-34T>C	ACVR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3264985	NM_145259.3(ACVR1C):c.176T>C (p.Val59Ala)	ACVR1C (V59A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 disorder	GLikely benign
Select item 3143083	NM_145259.3(ACVR1C):c.8G>T (p.Arg3Leu)	ACVR1C, LOC129934971 (R3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	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 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 75