172[HGNC] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 2335665	NM_004302.5(ACVR1B):c.11C>T (p.Ser4Leu)	ACVR1B (S4L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143027	NM_004302.5(ACVR1B):c.35C>A (p.Pro12His)	ACVR1B (P12H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143033	NM_004302.5(ACVR1B):c.46C>T (p.Leu16Phe)	ACVR1B (L16F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143039	NM_004302.5(ACVR1B):c.64G>A (p.Gly22Ser)	ACVR1B (G22S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1287358	NM_004302.5(ACVR1B):c.91+2641A>G	ACVR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3264974	NM_004302.5(ACVR1B):c.103G>A (p.Ala35Thr)	ACVR1B (A35T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206596	NM_004302.5(ACVR1B):c.313G>A (p.Asp105Asn)	ACVR1B (D105N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603353	NM_004302.5(ACVR1B):c.421A>C (p.Ile141Leu)	ACVR1B (I141L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264944	NM_004302.5(ACVR1B):c.533C>T (p.Thr178Met)	ACVR1B (T178M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264963	NM_004302.5(ACVR1B):c.563C>T (p.Thr188Ile)	ACVR1B (T136I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513769	NM_004302.5(ACVR1B):c.812-1299C>T	ACVR1B (L275F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3264954	NM_004302.5(ACVR1B):c.812-1263G>T	ACVR1B (A287S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143044	NM_004302.5(ACVR1B):c.812-1205T>G	ACVR1B (F306C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143047	NM_004302.5(ACVR1B):c.817G>C (p.Gly273Arg)	ACVR1B (G226R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1174607	NM_004302.5(ACVR1B):c.912G>A (p.Met304Ile)	ACVR1B (M252I +5 more)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped	GPathogenic
Select item 2554277	NM_004302.5(ACVR1B):c.937A>G (p.Ser313Gly)	ACVR1B (S266G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397965	NM_004302.5(ACVR1B):c.1144G>A (p.Ala382Thr)	ACVR1B (A249T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8227	NM_004302.5(ACVR1B):c.1159_1163del (p.Asp387fs)	ACVR1B (D428fs +2 more)	Deletion (frameshift variant)	Carcinoma of pancreas	GPathogenic
Select item 2264287	NM_004302.5(ACVR1B):c.1241C>A (p.Ala414Asp)	ACVR1B (A455D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273499	NM_004302.5(ACVR1B):c.1243C>G (p.Arg415Gly)	ACVR1B (R455G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8228	NM_004302.5(ACVR1B):c.1262-502_1392+24del	ACVR1B	Deletion (splice acceptor variant +1 more)	Carcinoma of pancreas	GPathogenic
Select item 2569121	NM_004302.5(ACVR1B):c.1364A>T (p.Asn455Ile)	ACVR1B (N228I +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273955	NM_004302.5(ACVR1B):c.1364A>G (p.Asn455Ser)	ACVR1B (N361S +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788883	NM_004302.5(ACVR1B):c.1482C>T (p.Leu494=)	ACVR1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3024271	NC_000012.11:g.52199766_52388207del	ACVR1B, ACVRL1 +3 more	Deletion	Seizures, benign familial infantile, 5 +3 more	GLikely pathogenic
Select item 2684672	GRCh37/hg19 12q13.13(chr12:52249052-52368252)x3	ACVR1B, ACVRL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 624492	GRCh37/hg19 12q13.13(chr12:51880647-52370250)x3	ACVR1B, ACVRL1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 34