ClinVar for MedGen (Select 1779339) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393138	NM_001386135.1(AFF3):c.82C>T (p.Arg28Trp)	AFF3 (R28W +1 more)	Single nucleotide variant (missense variant)	KINSSHIP syndrome	GLikely benign
Select item 3341353	NM_001386135.1(AFF3):c.127G>C (p.Asp43His)	AFF3 (D43H +1 more)	Single nucleotide variant (missense variant)	KINSSHIP syndrome	GUncertain significance
Select item 3341352	NM_001386135.1(AFF3):c.1678G>T (p.Ala560Ser)	AFF3 (A560S +1 more)	Single nucleotide variant (missense variant)	KINSSHIP syndrome	GUncertain significance
Select item 3257727	NM_001386135.1:c.-64-274CGG[(797_850)]	AFF3	Microsatellite	KINSSHIP syndrome	GUncertain significance
Select item 3242076	NM_001386135.1(AFF3):c.1823CCGCGG[3] (p.Ala611_Asp612insAlaAla)	AFF3	Microsatellite (inframe_insertion)	KINSSHIP syndrome	GUncertain significance
Select item 3059499	NM_001386135.1(AFF3):c.1788del (p.Asp598fs)	AFF3 (D598fs +1 more)	Deletion (frameshift variant)	KINSSHIP syndrome	GBenign
Select item 2479235	NM_001386135.1(AFF3):c.664T>A (p.Ser222Thr)	AFF3 (S247T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2444285	NM_001386135.1(AFF3):c.1548del (p.Ser517fs)	AFF3 (S517fs +1 more)	Deletion (frameshift variant)	KINSSHIP syndrome	GLikely pathogenic
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 1802572	NM_001386135.1(AFF3):c.[2151dup;3059A>G]	AFF3 (G718fs +3 more)	Duplication (frameshift variant +1 more)	KINSSHIP syndrome	GLikely pathogenic
Select item 1709819	NM_001386135.1(AFF3):c.736G>C (p.Asp246His)	AFF3 (D246H +1 more)	Single nucleotide variant (missense variant)	KINSSHIP syndrome	GUncertain significance
Select item 1696467	NM_001386135.1(AFF3):c.53+41939G>A	AFF3	Single nucleotide variant (intron variant)	KINSSHIP syndrome	GUncertain significance
Select item 1338773	NM_001386135.1(AFF3):c.692_693delinsGA (p.Pro231Arg)	AFF3 (P231R +1 more)	Indel (missense variant)	AFF3-related neurodevelopmental disorders +1 more	GPathogenic
Select item 1077079	NM_001386135.1(AFF3):c.704T>G (p.Val235Gly)	AFF3 (V260G +1 more)	Single nucleotide variant (missense variant)	KINSSHIP syndrome	GPathogenic
Select item 1077078	NM_001386135.1(AFF3):c.692C>T (p.Pro231Leu)	AFF3 (P256L +1 more)	Single nucleotide variant (missense variant)	KINSSHIP syndrome	GPathogenic
Select item 1077077	NM_001386135.1(AFF3):c.691C>T (p.Pro231Ser)	AFF3 (P231S +1 more)	Single nucleotide variant (missense variant)	KINSSHIP syndrome	GPathogenic
Select item 1077076	NM_001386135.1(AFF3):c.698C>T (p.Ala233Val)	AFF3 (A258V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1077075	NM_001386135.1(AFF3):c.697G>T (p.Ala233Ser)	AFF3 (A258S +1 more)	Single nucleotide variant (missense variant)	KINSSHIP syndrome	GPathogenic
Select item 430951	NM_001386135.1(AFF3):c.697G>A (p.Ala233Thr)	AFF3 (A233T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic

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Items: 20