ACVR1C[gene] and "single gene"[properties] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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Items: 51