ClinVar for Gene (Select 3159) - ClinVar - NCBI

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Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106260	NM_145899.3(HMGA1):c.102G>A (p.Pro34=)	HMGA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2371496	NM_145899.3(HMGA1):c.11C>T (p.Ser4Leu)	HMGA1 (S4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258481	NM_145899.3(HMGA1):c.29A>G (p.Gln10Arg)	HMGA1 (Q10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1277118	NM_145899.3(HMGA1):c.136-14dup	HMGA1	Duplication (intron variant)	not provided	GBenign
Select item 783751	NM_145899.3(HMGA1):c.57C>T (p.Asp19=)	HMGA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic