Related gene-specific medical variations for Gene (Select 8470) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321452	NM_001395207.1(SORBS2):c.3833G>T (p.Trp1278Leu)	SORBS2, SORBS2-AS1 (W1178L +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321441	NM_001395207.1(SORBS2):c.3721G>A (p.Gly1241Ser)	SORBS2, SORBS2-AS1 (G1032S +24 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528571	NM_001395207.1(SORBS2):c.3727G>C (p.Gly1243Arg)	SORBS2, SORBS2-AS1 (G1034R +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507432	NM_001395207.1(SORBS2):c.3724G>T (p.Gly1242Trp)	SORBS2, SORBS2-AS1 (G1111W +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400025	NM_001395207.1(SORBS2):c.3876C>A (p.Phe1292Leu)	LOC126807247, SORBS2 (F1083L +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399010	NM_001395207.1(SORBS2):c.3829G>A (p.Gly1277Ser)	SORBS2, SORBS2-AS1 (G1040S +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268028	NM_001395207.1(SORBS2):c.3864C>A (p.Phe1288Leu)	LOC126807247, SORBS2 (F1051L +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527145	GRCh37/hg19 4q35.1(chr4:186600863-186943371)	SORBS2	Copy number loss	not specified	GUncertain significance
Select item 980715	GRCh37/hg19 4q35.1(chr4:186870509-186940136)x1	SORBS2	Copy number loss	not provided	GLikely benign
Select item 686663	GRCh37/hg19 4q35.1(chr4:186511372-186883196)x1	SORBS2	Copy number loss	not provided	GUncertain significance
Select item 144875	GRCh38/hg38 4q35.1(chr4:185717485-185738139)x3	SORBS2	Copy number gain	See cases	GBenign