HMGA2[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30