SYF2[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2458005	NM_015484.5(SYF2):c.445T>C (p.Tyr149His)	SYF2 (Y107H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343892	NM_015484.5(SYF2):c.130C>G (p.Arg44Gly)	SYF2 (R44G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460709	NM_015484.5(SYF2):c.62C>A (p.Ala21Glu)	SYF2 (A21E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 627647	NC_000001.11:g.25320307_25719620dup	LDLRAP1, LOC122056798 +29 more	Duplication	9q34 microduplication syndrome	GLikely benign
Select item 2685388	GRCh37/hg19 1p36.11(chr1:25472339-26240071)x1	AUNIP, LDLRAP1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1807901	GRCh37/hg19 1p36.11(chr1:25502292-25753638)x3	RHCE, RHD +3 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic