9385[HGNC] - ClinVar

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

Search results

Items: 29

	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 2681501	NM_002733.5(PRKAG1):c.990G>T (p.Lys330Asn)	DDN-AS1, PRKAG1 (K298N +2 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3218720	NM_002733.5(PRKAG1):c.846T>A (p.His282Gln)	DDN-AS1, PRKAG1 (H250Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207676	NM_002733.5(PRKAG1):c.829C>G (p.Leu277Val)	DDN-AS1, PRKAG1 (L245V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309939	NM_002733.5(PRKAG1):c.643G>A (p.Val215Met)	DDN-AS1, PRKAG1 (V183M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538443	NM_002733.5(PRKAG1):c.641A>G (p.Tyr214Cys)	DDN-AS1, PRKAG1 (Y214C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309940	NM_002733.5(PRKAG1):c.626C>T (p.Thr209Ile)	DDN-AS1, PRKAG1 (T218I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362498	NM_002733.5(PRKAG1):c.623G>A (p.Arg208His)	DDN-AS1, PRKAG1 (R208H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617508	NM_002733.5(PRKAG1):c.472C>A (p.Pro158Thr)	DDN-AS1, PRKAG1 (P126T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235404	NM_002733.5(PRKAG1):c.463G>A (p.Val155Ile)	DDN-AS1, PRKAG1 (V123I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328162	NM_002733.5(PRKAG1):c.290G>A (p.Arg97His)	DDN-AS1, PRKAG1 (R65H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218718	NM_002733.5(PRKAG1):c.122T>C (p.Leu41Pro)	DDN-AS1, PRKAG1 (L9P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236796	NM_002733.5(PRKAG1):c.106C>T (p.His36Tyr)	DDN-AS1, PRKAG1 (H36Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259104	NM_002733.5(PRKAG1):c.85T>C (p.Tyr29His)	DDN-AS1, PRKAG1 (Y29H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218719	NM_002733.5(PRKAG1):c.74A>G (p.Asn25Ser)	DDN-AS1, PRKAG1 (N25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379928	NM_002733.5(PRKAG1):c.40G>A (p.Glu14Lys)	DDN-AS1, PRKAG1 (E14K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216362	NM_002733.5(PRKAG1):c.20C>T (p.Ser7Leu)	DDN-AS1, PRKAG1 (S7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244281	NC_000012.11:g.(?_49162374)_(49437585_?)dup	RND1, WNT1 +10 more	Duplication	Kabuki syndrome	GUncertain significance
Select item 3244280	NC_000012.11:g.(?_49298120)_(49488295_?)dup	ARF3, CCDC65 +8 more	Duplication	Kabuki syndrome	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 633775	GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1	ADCY6, ARF3 +13 more	Copy number loss	Kabuki syndrome 1	GPathogenic
Select item 563945	GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3	CCDC65, WNT10B +14 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
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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: 29