29545[HGNC] - ClinVar

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Items: 23

	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 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 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 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 2643381	NM_022491.3(SUDS3):c.9C>T (p.Ala3=)	SUDS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2223409	NM_022491.3(SUDS3):c.93G>C (p.Glu31Asp)	SUDS3 (E31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522670	NM_022491.3(SUDS3):c.137A>G (p.Asp46Gly)	SUDS3 (D46G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617774	NM_022491.3(SUDS3):c.252G>T (p.Leu84Phe)	SUDS3 (L84F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536781	NM_022491.3(SUDS3):c.305T>C (p.Leu102Pro)	SUDS3 (L102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171958	NM_022491.3(SUDS3):c.342A>T (p.Glu114Asp)	SUDS3 (E114D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323528	NM_022491.3(SUDS3):c.416T>C (p.Phe139Ser)	SUDS3 (F139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323527	NM_022491.3(SUDS3):c.695C>T (p.Pro232Leu)	SUDS3 (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537561	NM_022491.3(SUDS3):c.703C>G (p.Pro235Ala)	SUDS3 (P235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590555	NM_022491.3(SUDS3):c.782A>G (p.Lys261Arg)	SUDS3 (K261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791587	NM_022491.3(SUDS3):c.951C>T (p.Arg317=)	SUDS3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063235	GRCh37/hg19 12q24.23(chr12:118724504-119530424)x3	SRRM4, SUDS3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
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 686465	GRCh37/hg19 12q24.21-24.23(chr12:116718607-119728623)x1	FBXO21, FBXW8 +15 more	Copy number loss	not provided	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

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Items: 23