ClinVar for Gene (Select 121665) - ClinVar

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

Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322356	NM_139015.5(SPPL3):c.511A>G (p.Met171Val)	SPPL3 (M171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3244257	NC_000012.11:g.(?_121163689)_(121438995_?)del	ACADS, HNF1A +1 more	Deletion	Deficiency of butyryl-CoA dehydrogenase	GPathogenic
Select item 3169358	NM_139015.5(SPPL3):c.682C>G (p.Leu228Val)	SPPL3 (L228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2623495	NM_139015.5(SPPL3):c.716C>A (p.Pro239His)	SPPL3 (P239H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2454302	NM_139015.5(SPPL3):c.26C>T (p.Ala9Val)	SPPL3 (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343314	NM_139015.5(SPPL3):c.232A>G (p.Ile78Val)	SPPL3 (I78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330476	NM_139015.5(SPPL3):c.814A>G (p.Ile272Val)	SPPL3 (I272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319547	NM_139015.5(SPPL3):c.298A>G (p.Ile100Val)	SPPL3 (I100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262851	NM_139015.5(SPPL3):c.719A>G (p.Asn240Ser)	SPPL3 (N240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809497	GRCh37/hg19 12q24.31(chr12:120761046-121280839)x4	ACADS, CABP1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 988611	GRCh37/hg19 12q24.31(chr12:121200681-121428630)x1	HNF1A, SPPL3	Copy number loss	See cases	GUncertain significance
Select item 980996	GRCh37/hg19 12q24.31(chr12:121253899-121570366)x3	C12orf43, HNF1A +2 more	Copy number gain	not provided	GUncertain significance
Select item 563963	GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3	PXN, ACADS +19 more	Copy number gain	not provided	GUncertain significance
Select item 563934	GRCh37/hg19 12q24.31(chr12:121070791-121422367)x3	ACADS, CABP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 493603	GRCh37/hg19 12q24.31(chr12:121017665-121496723)x3	ACADS, C12orf43 +7 more	Copy number gain	not provided	GLikely benign
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 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 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

Links from Gene

Items: 30