ClinVar for Gene (Select 51367) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308922	NM_015918.4(POP5):c.359G>A (p.Arg120Lys)	POP5 (R70K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308920	NM_015918.4(POP5):c.384C>G (p.Asn128Lys)	POP5 (N78K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	CDK2AP1, DIABLO +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3216785	NM_015918.4(POP5):c.416A>G (p.Gln139Arg)	POP5 (Q139R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216784	NM_015918.4(POP5):c.18C>G (p.His6Gln)	POP5 (H6Q)	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 2603448	NM_015918.4(POP5):c.484A>G (p.Met162Val)	POP5 (M162V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532622	NM_015918.4(POP5):c.211A>G (p.Lys71Glu)	POP5 (K71E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528502	NM_015918.4(POP5):c.59G>A (p.Cys20Tyr)	POP5 (C20Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456332	NM_015918.4(POP5):c.277C>A (p.Arg93Ser)	POP5 (R93S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456232	NM_015918.4(POP5):c.117G>T (p.Arg39Ser)	POP5 (R39S)	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 563963	GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3	PXN, ACADS +19 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)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +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	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 24