ClinVar for MedGen (Select 155512) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377354	NM_002025.4(AFF2):c.967C>T (p.Leu323Phe)	AFF2 (L319F +1 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 3376489	NM_002025.4(AFF2):c.2185C>A (p.Gln729Lys)	AFF2 (Q370K +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 3367153	NM_002025.4(AFF2):c.2824A>G (p.Asn942Asp)	AFF2 (N583D +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 3220887	NM_002025.4(AFF2):c.2913+3A>C	AFF2	Single nucleotide variant (intron variant)	FRAXE	GUncertain significance
Select item 3065926	NM_002025.4(AFF2):c.2641C>T (p.Pro881Ser)	AFF2 (P522S +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2627086	NM_002025.4(AFF2):c.3242A>G (p.Lys1081Arg)	AFF2 (K1042R +4 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2573028	NM_002025.4(AFF2):c.853C>A (p.Pro285Thr)	AFF2 (P281T +1 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2442214	NM_002025.4(AFF2):c.2116A>G (p.Lys706Glu)	AFF2 (K347E +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2442167	NM_002025.4(AFF2):c.1738C>T (p.Pro580Ser)	AFF2 (P221S +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2441628	NM_002025.4(AFF2):c.2330C>T (p.Thr777Ile)	AFF2 (T418I +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2438909	NM_002025.4(AFF2):c.3074C>T (p.Thr1025Ile)	AFF2 (T1015I +4 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2438908	NM_002025.4(AFF2):c.1735G>A (p.Val579Ile)	AFF2 (V220I +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2438907	NM_002025.4(AFF2):c.1292G>A (p.Ser431Asn)	AFF2 (S392N +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2438906	NM_002025.4(AFF2):c.412C>G (p.Pro138Ala)	AFF2 (P134A +1 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2438905	NM_002025.4(AFF2):c.3017T>C (p.Val1006Ala)	AFF2 (V1006A +4 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2438904	NM_002025.4(AFF2):c.511G>T (p.Ala171Ser)	AFF2 (A167S +1 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2438903	NM_002025.4(AFF2):c.2820C>A (p.Asp940Glu)	AFF2 (D581E +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2438902	NM_002025.4(AFF2):c.2637G>T (p.Leu879Phe)	AFF2 (L520F +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 2431756	NM_002025.4(AFF2):c.1012C>A (p.Pro338Thr)	AFF2 (P334T +1 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 1708052	NM_002025.4(AFF2):c.3163A>G (p.Ser1055Gly)	AFF2 (S1016G +4 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 1703601	GRCh37/hg19 Xq28(chrX:147458752-147628024)	AFF2	Copy number loss	FRAXE	GPathogenic
Select item 1699495	NM_002025.4(AFF2):c.3164G>A (p.Ser1055Asn)	AFF2 (S1016N +4 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 1679659	NM_002025.4(AFF2):c.48-60738G>C	AFF2	Single nucleotide variant (intron variant)	FRAXE	GUncertain significance
Select item 1332788	NM_002025.4(AFF2):c.2885G>A (p.Cys962Tyr)	AFF2 (C603Y +5 more)	Single nucleotide variant (missense variant)	FRAXE	GLikely pathogenic
Select item 1327917	NM_002025.4(AFF2):c.3481C>T (p.Arg1161Ter)	AFF2 (R1122* +4 more)	Single nucleotide variant (nonsense)	FRAXE	GLikely pathogenic
Select item 1305777	NM_002025.4(AFF2):c.2614G>C (p.Glu872Gln)	AFF2 (E513Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1188907	NM_002025.4(AFF2):c.3623+57G>A	AFF2	Single nucleotide variant (intron variant)	FRAXE +1 more	GBenign
Select item 1188906	NM_002025.4(AFF2):c.1558-78G>C	AFF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188905	NM_002025.4(AFF2):c.1041+56456A>G	AFF2 (K15R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1029403	NM_002025.4(AFF2):c.3010A>T (p.Thr1004Ser)	AFF2 (T994S +4 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 1029402	NM_002025.4(AFF2):c.1467A>T (p.Glu489Asp)	AFF2 (E450D +5 more)	Single nucleotide variant (missense variant)	FRAXE +1 more	GUncertain significance
Select item 986246	NM_002025.4(AFF2):c.2792G>A (p.Ser931Asn)	AFF2 (S572N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 982732	NM_002025.4(AFF2):c.2558G>A (p.Arg853His)	AFF2 (R494H +5 more)	Single nucleotide variant (missense variant)	FRAXE	GUncertain significance
Select item 975105	NM_002025.4(AFF2):c.3448G>T (p.Asp1150Tyr)	AFF2 (D1111Y +4 more)	Single nucleotide variant (missense variant)	FRAXE	GPathogenic
Select item 930497	NM_002025.4(AFF2):c.2914-15C>A	AFF2	Single nucleotide variant (intron variant)	FRAXE	GUncertain significance
Select item 804093	NM_002025.4(AFF2):c.1834C>G (p.His612Asp)	AFF2 (H573D +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 626304	NM_000295.4(SERPINA1):c.[1096G>A;35T>C]	SERPINA1 (E366K +1 more)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 625801	GRCh37/hg19 Xq28(chrX:147642893-147870805)	AFF2	Copy number loss	FRAXE	GPathogenic
Select item 624447	NM_002025.4(AFF2):c.2009G>A (p.Arg670His)	AFF2 (R670H +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 489209	NM_002025.4(AFF2):c.1173G>A (p.Gln391=)	AFF2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 451523	NM_002025.4(AFF2):c.3038C>T (p.Thr1013Met)	AFF2 (T1013M +4 more)	Single nucleotide variant (missense variant)	FRAXE +1 more	GUncertain significance
Select item 431909	NM_002025.4(AFF2):c.3267+5G>A	AFF2	Single nucleotide variant (intron variant)	FRAXE +1 more	GConflicting classifications of pathogenicity
Select item 281219	NM_002025.4(AFF2):c.1842G>T (p.Leu614Phe)	AFF2 (L614F +5 more)	Single nucleotide variant (missense variant)	FRAXE +1 more	GUncertain significance
Select item 219173	NM_002025.4(AFF2):c.*4554C>G	AFF2	Single nucleotide variant (3 prime UTR variant)	FRAXE	GUncertain significance
Select item 194202	NM_002025.4(AFF2):c.2780G>A (p.Arg927His)	AFF2 (R927H +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 166659	NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala)	AFF2 (P886A +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 128283	NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe)	AFF2 (L610F +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 128281	NM_002025.4(AFF2):c.1488G>A (p.Ser496=)	AFF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 94028	NM_002025.4(AFF2):c.3404+7A>G	AFF2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 94027	NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu)	AFF2 (I1030L +4 more)	Single nucleotide variant (missense variant)	FRAXE +1 more	GConflicting classifications of pathogenicity
Select item 29983	NG_016313.2:g.(5527_156380)_(156514_166289)del	AFF2	Deletion	FRAXE	GPathogenic
Select item 17967	NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	SERPINA1 (E366K)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic; risk factor
Select item 10526	NM_001169122.2(AFF2):c.-460GCC[6_25]	AFF2, FRAXE	Microsatellite	FRAXE	GPathogenic

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Links from MedGen

Items: 53