ClinVar for MedGen (Select 75730) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582731	NM_004643.4(PABPN1):c.74_76dup (p.Arg25_His26insArg)	BCL2L2-PABPN1, PABPN1	Duplication (intron variant +1 more)	Oculopharyngeal muscular dystrophy	GUncertain significance
Select item 2444454	NM_145868.2(ANXA11):c.118_119delinsAT (p.Asp40Ile)	ANXA11 (D40I +1 more)	Indel (missense variant)	Oculopharyngeal muscular dystrophy	GPathogenic
Select item 2437738	NM_004643.4(PABPN1):c.21_26dup (p.Ala11_Gly12insAlaAla)	BCL2L2-PABPN1, PABPN1	Duplication (inframe_insertion +1 more)	Oculopharyngeal muscular dystrophy	GPathogenic
Select item 2434551	NM_004643.4(PABPN1):c.624_625dup (p.Ser209fs)	BCL2L2-PABPN1, PABPN1 (S209fs +4 more)	Duplication (frameshift variant)	Oculopharyngeal muscular dystrophy	GUncertain significance
Select item 2434550	NM_004643.4(PABPN1):c.198_203dup (p.Glu71_Glu72insProGlu)	BCL2L2-PABPN1, PABPN1	Duplication (inframe_insertion +1 more)	Oculopharyngeal muscular dystrophy	GUncertain significance
Select item 2434549	NM_004643.4(PABPN1):c.37G>C (p.Ala13Pro)	BCL2L2-PABPN1, PABPN1 (A13P)	Single nucleotide variant (missense variant +1 more)	Oculopharyngeal muscular dystrophy	GUncertain significance
Select item 2434548	NM_004643.4(PABPN1):c.3GGC[6] (p.Ala11del)	BCL2L2-PABPN1, PABPN1 (A11del)	Microsatellite (inframe_deletion +2 more)	Oculopharyngeal muscular dystrophy	GUncertain significance
Select item 2434547	NM_004643.4(PABPN1):c.269C>T (p.Ser90Leu)	PABPN1, BCL2L2-PABPN1 (S90L)	Single nucleotide variant (missense variant +1 more)	Oculopharyngeal muscular dystrophy	GUncertain significance
Select item 2434546	NM_004643.4(PABPN1):c.242C>G (p.Pro81Arg)	PABPN1, BCL2L2-PABPN1 (P81R)	Single nucleotide variant (missense variant +1 more)	Oculopharyngeal muscular dystrophy	GUncertain significance
Select item 2434545	NM_004643.4(PABPN1):c.-1G>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (5 prime UTR variant +1 more)	Oculopharyngeal muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2434544	NM_004643.4(PABPN1):c.481A>G (p.Met161Val)	BCL2L2-PABPN1, PABPN1 (M161V +4 more)	Single nucleotide variant (missense variant)	Oculopharyngeal muscular dystrophy	GUncertain significance
Select item 2434543	NM_004643.4(PABPN1):c.26C>T (p.Ala9Val)	BCL2L2-PABPN1, PABPN1 (A9V)	Single nucleotide variant (missense variant +1 more)	Oculopharyngeal muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1327685	NM_004643.4(PABPN1):c.31G>A (p.Ala11Thr)	BCL2L2-PABPN1, PABPN1 (A11T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1323408	NM_004643.4(PABPN1):c.3GGC[12] (p.Ala7_Ala11dup)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +2 more)	not provided +1 more	GPathogenic
Select item 1323407	NM_004643.4(PABPN1):c.3GGC[8] (p.Ala11dup)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1323406	NM_004643.4(PABPN1):c.24AGC[4] (p.Ala11dup)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +1 more)	Oculopharyngeal muscular dystrophy	GPathogenic
Select item 987098	NM_004643.4(PABPN1):c.18_26dup (p.Ala9_Ala11dup)	PABPN1, BCL2L2-PABPN1	Duplication (inframe_insertion +1 more)	Oculopharyngeal muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 803008	NM_004643.4(PABPN1):c.15_26dup (p.Ala8_Ala11dup)	BCL2L2-PABPN1, PABPN1	Duplication (inframe_insertion +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 503634	NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +2 more)	Oculopharyngeal muscular dystrophy +1 more	GPathogenic
Select item 281604	NM_004643.4(PABPN1):c.169C>T (p.Pro57Ser)	PABPN1, BCL2L2-PABPN1 (P57S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 279930	NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +2 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 7368	NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala)	BCL2L2-PABPN1, PABPN1 (G12A)	Single nucleotide variant (missense variant +1 more)	Oculopharyngeal muscular dystrophy +1 more	GConflicting classifications of pathogenicity

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Items: 22