Related gene-specific medical variations for Gene (Select 1804) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251623	NC_000007.13:g.(?_153749482)_(153750149_154143298)dup	DPP6	Duplication	not specified	GUncertain significance
Select item 2658251	NM_130797.4(DPP6):c.243+5629A>G	DPP6, LOC101929998	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2441029	NM_130797.4(DPP6):c.457+3G>A	DPP6	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 2441028	NM_130797.4(DPP6):c.975C>G (p.Ile325Met)	DPP6 (I218M +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 1992326	NM_130797.4(DPP6):c.1033C>T (p.Pro345Ser)	DPP6 (P281S +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 1701761	NM_130797.4(DPP6):c.1888G>A (p.Gly630Ser)	DPP6 (G523S +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 1342568	NM_130797.4(DPP6):c.1391C>T (p.Thr464Met)	DPP6 (T357M +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 1213816	NM_001364497.2(DPP6):c.39T>A (p.Cys13Ter)	DPP6 (C13*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 992764	NM_130797.4(DPP6):c.1565A>G (p.Asn522Ser)	DPP6 (N415S +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 33 +1 more	GUncertain significance
Select item 930297	NM_130797.4(DPP6):c.109G>T (p.Gly37Cys)	DPP6 (G37C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 872358	NM_130797.4(DPP6):c.932C>T (p.Thr311Met)	DPP6 (T204M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 523018	NM_130797.4(DPP6):c.1388T>C (p.Ile463Thr)	DPP6 (I399T +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 377205	NM_130797.4(DPP6):c.382AAG[2] (p.Lys130del)	DPP6 (K66del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 145727	GRCh38/hg38 7q36.2(chr7:154125945-154207385)x3	DPP6	Copy number gain	See cases	GBenign
Select item 144921	GRCh38/hg38 7q36.2(chr7:153460303-153790178)x3	DPP6	Copy number gain	See cases	GBenign