HMGA2[gene] - ClinVar

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Items: 47

	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 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
Select item 3033836	NM_003483.6(HMGA2):c.15T>G (p.Gly5=)	HMGA2	Single nucleotide variant (synonymous variant)	HMGA2-related disorder	GLikely benign
Select item 1705396	NM_003483.6(HMGA2):c.44_48del (p.Ala15fs)	HMGA2 (A15fs)	Deletion (frameshift variant)	Silver-Russell syndrome 5	GLikely pathogenic
Select item 1679403	NM_003483.6(HMGA2):c.47dup (p.Gln18fs)	HMGA2 (Q18fs)	Duplication (frameshift variant)	Silver-Russell syndrome 5	GPathogenic
Select item 2444041	NM_003483.6(HMGA2):c.111+6T>A	HMGA2	Single nucleotide variant (intron variant)	Silver-Russell syndrome 5	GUncertain significance
Select item 3234118	NM_003483.6(HMGA2):c.138_141delinsCT (p.Lys46fs)	HMGA2 (K46fs)	Indel (frameshift variant)	Silver-Russell syndrome 5	GPathogenic
Select item 3106261	NM_003483.6(HMGA2):c.154C>A (p.Pro52Thr)	HMGA2 (P52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712612	NM_003483.6(HMGA2):c.154C>T (p.Pro52Ser)	HMGA2 (P52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365148	NM_003483.6(HMGA2):c.179C>T (p.Pro60Leu)	HMGA2 (P60L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253035	NM_003483.6(HMGA2):c.189del (p.Ala64fs)	HMGA2 (A64fs)	Deletion (frameshift variant)	Silver-Russell syndrome 5 +1 more	GPathogenic
Select item 253034	NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter)	HMGA2 (Q65*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3068509	NM_003483.6(HMGA2):c.198+1G>A	HMGA2	Single nucleotide variant (splice donor variant)	Silver-Russell syndrome 5	GUncertain significance
Select item 768565	NM_003483.6(HMGA2):c.199-8A>G	HMGA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2239839	NM_003483.6(HMGA2):c.212C>T (p.Thr71Ile)	HMGA2 (T71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1804186	NM_003483.6(HMGA2):c.223C>T (p.Arg75Trp)	HMGA2 (R75W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720005	NM_003483.6(HMGA2):c.231A>G (p.Arg77=)	HMGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068339	NM_003483.6(HMGA2):c.249+3_249+6del	HMGA2	Deletion (splice donor variant)	Silver-Russell syndrome 5	GUncertain significance
Select item 2643164	NM_003483.6(HMGA2):c.250-36489C>T	HMGA2 (R142*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2582132	NM_003483.6(HMGA2):c.250-36302G>A	HMGA2 (S91N)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3044402	NM_003483.6(HMGA2):c.250-36267A>G	HMGA2 (K103E)	Single nucleotide variant (3 prime UTR variant +2 more)	HMGA2-related disorder	GBenign
Select item 3033396	NM_003483.6(HMGA2):c.250-36248T>C	HMGA2	Single nucleotide variant (3 prime UTR variant +1 more)	HMGA2-related disorder	GBenign
Select item 784302	NM_003483.6(HMGA2):c.274C>G (p.Pro92Ala)	HMGA2 (P92A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 750623	NM_003483.6(HMGA2):c.282+9T>C	HMGA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2578687	NM_003483.6(HMGA2):c.282+933T>C	HMGA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3055904	NM_003483.6(HMGA2):c.282+1012T>C	HMGA2	Single nucleotide variant (synonymous variant +1 more)	HMGA2-related disorder	GBenign
Select item 917504	NM_003483.6(HMGA2):c.283-6_283del	HMGA2	Deletion (splice acceptor variant)	Silver-Russell syndrome 5	GPathogenic
Select item 800987	NM_003483.6(HMGA2):c.283-2A>G	HMGA2	Single nucleotide variant (splice acceptor variant)	Uterine leiomyoma	GUncertain significance
Select item 708544	NM_003483.6(HMGA2):c.300A>T (p.Thr100=)	HMGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 917507	NM_003483.6(HMGA2):c.303del (p.Ser102fs)	HMGA2 (S102fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2574934	NM_003483.6(HMGA2):c.311A>G (p.Glu104Gly)	HMGA2 (E104G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726798	NM_003483.6(HMGA2):c.315T>C (p.Ser105=)	HMGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043910	NM_003483.6(HMGA2):c.*1G>A	HMGA2	Single nucleotide variant (3 prime UTR variant)	HMGA2-related disorder	GLikely benign
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	DYRK2, GNS +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 3063238	GRCh37/hg19 12q14.3(chr12:65462762-66830065)x1	GRIP1, HELB +7 more	Copy number loss	not specified	GPathogenic
Select item 2685438	GRCh37/hg19 12q14.3(chr12:65716808-66690108)x1	HMGA2, IRAK3 +3 more	Copy number loss	not provided	GPathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1340105	GRCh37/hg19 12q14.3-15(chr12:66045645-68872343)x1	CAND1, DYRK2 +10 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 688292	GRCh37/hg19 12q14.3(chr12:66285627-66718973)x3	HELB, HMGA2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685804	GRCh37/hg19 12q14.3(chr12:66200777-66575257)x1	HMGA2, LLPH +1 more	Copy number loss	not provided	GPathogenic
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: 47