Related gene-specific medical variations for Gene (Select 3899) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441719	NM_001386135.1(AFF3):c.1108C>T (p.Leu370Phe)	AFF3 (L370F +1 more)	Single nucleotide variant (missense variant)	KINSSHIP syndrome +1 more	GUncertain significance
Select item 2438910	NM_001386135.1(AFF3):c.1518C>A (p.Asp506Glu)	AFF3 (D506E +1 more)	Single nucleotide variant (missense variant)	KINSSHIP syndrome	GUncertain significance
Select item 1808600	GRCh37/hg19 2q11.2(chr2:100406285-100877652)x3	AFF3	Copy number gain	not provided	GUncertain significance
Select item 1802655	NM_001386135.1(AFF3):c.3059A>G (p.Gln1020Arg)	AFF3 (Q1020R +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1802654	NM_001386135.1(AFF3):c.2151dup (p.Gly718fs)	AFF3 (G718fs +1 more)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696467	NM_001386135.1(AFF3):c.53+41939G>A	AFF3	Single nucleotide variant (intron variant)	KINSSHIP syndrome	GUncertain significance
Select item 1184312	NM_001386135.1(AFF3):c.1091+27078C>G	AFF3	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 1184311	NM_001386135.1(AFF3):c.311C>T (p.Pro104Leu)	AFF3 (P104L +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 814287	GRCh37/hg19 2q11.2(chr2:100480431-100730059)x3	AFF3	Copy number gain	not provided	GUncertain significance
Select item 686111	GRCh37/hg19 2q11.2(chr2:100719733-100754193)x1	AFF3	Copy number loss	not provided	GUncertain significance
Select item 562481	GRCh37/hg19 2q11.2(chr2:100735877-100780498)x1	AFF3	Copy number loss	not provided	GUncertain significance