GDF2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57411	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3	AGAP9, ANTXRL +112 more	Copy number gain	See cases	GPathogenic
Select item 150650	GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3	AGAP10, AGAP9 +35 more	Copy number gain	See cases	GBenign
Select item 146825	GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3	AGAP9, ANTXRL +34 more	Copy number gain	See cases	GBenign
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 161043	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 161022	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 160988	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 154864	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 154844	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 150698	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP9, ANTXRL +33 more	Copy number gain	See cases	GBenign
Select item 150663	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 150472	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 150205	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 149982	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 149897	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 148133	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 148103	GRCh38/hg38 10q11.22(chr10:46157935-48054380)x3	AGAP10, AGAP9 +36 more	Copy number gain	See cases	GBenign
Select item 147214	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 146806	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 146805	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 146700	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 145488	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 145457	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 144354	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 144187	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP9, ANTXRL +33 more	Copy number gain	See cases	GBenign
Select item 33676	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 32820	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 32321	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 32317	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 31951	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	GDF2, GPRIN2 +34 more	Copy number loss	See cases	GBenign
Select item 154978	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP10, AGAP9 +30 more	Copy number gain	See cases	GBenign
Select item 154430	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP9, ANXA8 +29 more	Copy number gain	See cases	GBenign
Select item 153030	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP10, AGAP9 +30 more	Copy number gain	See cases	GBenign
Select item 32955	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1	AGAP9, ANXA8 +29 more	Copy number loss	See cases	GBenign
Select item 148137	GRCh38/hg38 10q11.22(chr10:46489780-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 145472	GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign/Likely benign
Select item 145409	GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3	SYT15B, ZNF488 +26 more	Copy number gain	See cases	GBenign
Select item 154420	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 154419	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign
Select item 148134	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign
Select item 145473	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 144481	GRCh38/hg38 10q11.22(chr10:46490281-48074662)x1	AGAP10, AGAP9 +28 more	Copy number loss	See cases	GLikely benign
Select item 1199505	NC_000010.11:g.47322154C>A	GDF2	Single nucleotide variant	not provided	GLikely benign
Select item 1219941	NC_000010.11:g.47322283T>A	GDF2	Single nucleotide variant	not provided	GLikely benign
Select item 618663	NM_016204.4(GDF2):c.-12C>T	GDF2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1483244	NM_016204.4(GDF2):c.10G>A (p.Gly4Arg)	GDF2 (G4R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GUncertain significance
Select item 1141112	NM_016204.4(GDF2):c.18G>A (p.Leu6=)	GDF2	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 5	GLikely benign
Select item 1110451	NM_016204.4(GDF2):c.40_48dup (p.Ser14_Leu16dup)	GDF2	Duplication (inframe_insertion)	Telangiectasia, hereditary hemorrhagic, type 5	GLikely benign
Select item 3023784	NM_016204.4(GDF2):c.34C>G (p.Leu12Val)	GDF2 (L12V)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GUncertain significance
Select item 678674	NM_016204.4(GDF2):c.34C>T (p.Leu12=)	GDF2	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 5 +2 more	GBenign/Likely benign
Select item 3001460	NM_016204.4(GDF2):c.36G>A (p.Leu12=)	GDF2	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 5	GLikely benign
Select item 3018076	NM_016204.4(GDF2):c.41C>T (p.Ser14Phe)	GDF2 (S14F)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GUncertain significance
Select item 1391334	NM_016204.4(GDF2):c.41C>G (p.Ser14Cys)	GDF2 (S14C)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GUncertain significance
Select item 1741800	NM_016204.4(GDF2):c.45G>C (p.Leu15=)	GDF2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 652255	NM_016204.4(GDF2):c.64G>A (p.Gly22Arg)	GDF2 (G22R)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GUncertain significance
Select item 1125560	NM_016204.4(GDF2):c.69G>A (p.Lys23=)	GDF2	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 5	GLikely benign
Select item 993754	NM_016204.4(GDF2):c.69G>T (p.Lys23Asn)	GDF2 (K23N)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GLikely benign
Select item 1758173	NM_016204.4(GDF2):c.72A>G (p.Pro24=)	GDF2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 772215	NM_016204.4(GDF2):c.73C>T (p.Leu25=)	GDF2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 541541	NM_016204.4(GDF2):c.76C>T (p.Gln26Ter)	GDF2 (Q26*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 5	GPathogenic
Select item 1764359	NM_016204.4(GDF2):c.86del (p.Gly29fs)	GDF2 (G29fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1060159	NM_016204.4(GDF2):c.89G>A (p.Arg30Gln)	GDF2 (R30Q)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GUncertain significance
Select item 541540	NM_016204.4(GDF2):c.89G>C (p.Arg30Pro)	GDF2 (R30P)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GUncertain significance
Select item 1766847	NM_016204.4(GDF2):c.93G>T (p.Gly31=)	GDF2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2727298	NM_016204.4(GDF2):c.97G>A (p.Ala33Thr)	GDF2 (A33T)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GUncertain significance
Select item 1788806	NM_016204.4(GDF2):c.108C>T (p.Asn36=)	GDF2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1539882	NM_016204.4(GDF2):c.120A>C (p.Pro40=)	GDF2	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 5	GLikely benign
Select item 2919168	NM_016204.4(GDF2):c.121C>G (p.Leu41Val)	GDF2 (L41V)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GUncertain significance
Select item 2911096	NM_016204.4(GDF2):c.124G>T (p.Gly42Trp)	GDF2 (G42W)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GUncertain significance
Select item 1136016	NM_016204.4(GDF2):c.126G>A (p.Gly42=)	GDF2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1565291	NM_016204.4(GDF2):c.129G>T (p.Val43=)	GDF2	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 5	GLikely benign
Select item 3281130	NM_016204.4(GDF2):c.132T>C (p.Pro44=)	GDF2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2085277	NM_016204.4(GDF2):c.134G>A (p.Gly45Glu)	GDF2 (G45E)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GUncertain significance
Select item 2448313	NM_016204.4(GDF2):c.135A>C (p.Gly45=)	GDF2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226907	NM_016204.4(GDF2):c.146C>T (p.Pro49Leu)	GDF2 (P49L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1774799	NM_016204.4(GDF2):c.153C>T (p.His51=)	GDF2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1616747	NM_016204.4(GDF2):c.159C>T (p.Phe53=)	GDF2	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 5	GLikely benign
Select item 2448309	NM_016204.4(GDF2):c.177G>A (p.Leu59=)	GDF2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1106747	NM_016204.4(GDF2):c.198C>T (p.Phe66=)	GDF2	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 5	GLikely benign
Select item 646500	NM_016204.4(GDF2):c.203G>A (p.Arg68His)	GDF2 (R68H)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GUncertain significance
Select item 88651	NM_016204.4(GDF2):c.203G>T (p.Arg68Leu)	GDF2 (R68L)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 5	GLikely pathogenic

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