8106[geneid] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 1261404	NM_001199864.3(BCL2L2-PABPN1):c.433-2293_433-2292dup	BCL2L2-PABPN1, PABPN1	Duplication (intron variant)	not provided	GBenign
Select item 1262184	NM_001199864.3(BCL2L2-PABPN1):c.433-1746dup	BCL2L2-PABPN1, PABPN1	Duplication (intron variant)	not provided	GBenign
Select item 1278197	NM_001199864.3(BCL2L2-PABPN1):c.433-871A>G	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326207	NM_001199864.3(BCL2L2-PABPN1):c.433-803A>C	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2434545	NM_004643.4(PABPN1):c.-1G>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (5 prime UTR variant +1 more)	PABPN1-related condition +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 503634	NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +2 more)	not provided +1 more	GPathogenic
Select item 280233	NM_004643.4(PABPN1):c.3GGC[9] (p.Ala10_Ala11dup)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +2 more)	not provided	GPathogenic
Select item 279930	NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +2 more)	Oculopharyngeal muscular dystrophy +1 more	GPathogenic/Likely pathogenic
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 7367	NM_004643.4(PABPN1):c.3_23= (p.Met1_Ala8=)	BCL2L2-PABPN1, PABPN1	Microsatellite (no sequence alteration +2 more)	Oculopharyngeal muscular dystrophy	GPathogenic
Select item 3027316	NM_004643.4(PABPN1):c.12G>A (p.Ala4=)	PABPN1, BCL2L2-PABPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 803008	NM_004643.4(PABPN1):c.15_26dup (p.Ala8_Ala11dup)	BCL2L2-PABPN1, PABPN1	Duplication (inframe_insertion +1 more)	Oculopharyngeal muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 987098	NM_004643.4(PABPN1):c.18_26dup (p.Ala9_Ala11dup)	BCL2L2-PABPN1, PABPN1	Duplication (inframe_insertion +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 871964	NM_004643.4(PABPN1):c.20_34dup (p.Ala7_Ala11dup)	PABPN1, BCL2L2-PABPN1	Duplication (inframe_insertion +1 more)	not provided	GPathogenic
Select item 2274969	NM_004643.4(PABPN1):c.17C>T (p.Ala6Val)	BCL2L2-PABPN1, PABPN1 (A6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1323406	NM_004643.4(PABPN1):c.24AGC[4] (p.Ala11dup)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +1 more)	Oculopharyngeal muscular dystrophy	GPathogenic
Select item 871965	NM_004643.4(PABPN1):c.23_24insGGCGGCAGC (p.Ala9_Ala11dup)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +1 more)	not provided	GPathogenic
Select item 2502107	NM_004643.4(PABPN1):c.24A>G (p.Ala8=)	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2266931	NM_004643.4(PABPN1):c.28G>C (p.Ala10Pro)	BCL2L2-PABPN1, PABPN1 (A10P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 7368	NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala)	BCL2L2-PABPN1, PABPN1 (G12A)	Single nucleotide variant (missense variant +1 more)	PABPN1-related condition +1 more	GConflicting classifications of pathogenicity
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 2293066	NM_004643.4(PABPN1):c.38C>A (p.Ala13Asp)	BCL2L2-PABPN1, PABPN1 (A13D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292922	NM_004643.4(PABPN1):c.46G>T (p.Gly16Cys)	PABPN1, BCL2L2-PABPN1 (G16C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 287618	NM_004643.4(PABPN1):c.52G>T (p.Gly18Cys)	BCL2L2-PABPN1, PABPN1 (G18C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3067326	NM_004643.4(PABPN1):c.93C>G (p.Ala31=)	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2296224	NM_004643.4(PABPN1):c.109G>C (p.Glu37Gln)	PABPN1, BCL2L2-PABPN1 (E37Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524250	NM_004643.4(PABPN1):c.118C>T (p.Pro40Ser)	BCL2L2-PABPN1, PABPN1 (P40S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2644092	NM_004643.4(PABPN1):c.178C>T (p.Leu60=)	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 193289	NM_004643.4(PABPN1):c.186G>A (p.Leu62=)	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (synonymous variant +1 more)	PABPN1-related condition +2 more	GBenign
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 2620932	NM_004643.4(PABPN1):c.239C>T (p.Pro80Leu)	BCL2L2-PABPN1, PABPN1 (P80L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2485340	NM_004643.4(PABPN1):c.254G>T (p.Gly85Val)	BCL2L2-PABPN1, PABPN1 (G85V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1270901	NM_004643.4(PABPN1):c.351+92dup	BCL2L2-PABPN1, PABPN1	Duplication (intron variant)	not provided	GBenign
Select item 1327830	NM_004643.4(PABPN1):c.351+165C>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230691	NM_004643.4(PABPN1):c.352-168T>G	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2644093	NM_004643.4(PABPN1):c.457C>T (p.Pro153Ser)	BCL2L2-PABPN1, PABPN1 (P153S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225658	NM_004643.4(PABPN1):c.467-189T>C	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262816	NM_004643.4(PABPN1):c.474G>A (p.Pro158=)	PABPN1, BCL2L2-PABPN1	Single nucleotide variant (synonymous variant)	PABPN1-related condition +1 more	GBenign
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 2570874	NM_004643.4(PABPN1):c.534+7A>G	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1327832	NM_004643.4(PABPN1):c.534+73G>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295367	NM_004643.4(PABPN1):c.534+141A>C	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1290337	NM_004643.4(PABPN1):c.641+163C>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301516	NM_004643.4(PABPN1):c.642-103A>G	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 197765	NM_004643.4(PABPN1):c.661T>C (p.Ser221Pro)	BCL2L2-PABPN1, PABPN1 (S221P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1232806	NM_004643.4(PABPN1):c.730-42C>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 291058	NM_004643.4(PABPN1):c.787C>A (p.Arg263=)	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (synonymous variant)	BCL2L2-PABPN1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3044420	NM_004643.4(PABPN1):c.801C>T (p.Arg267=)	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (synonymous variant)	PABPN1-related condition	GLikely benign
Select item 1232969	NM_004643.4(PABPN1):c.882-255C>T	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1225022	NM_004643.4(PABPN1):c.882-204_882-203insAA	BCL2L2-PABPN1, PABPN1	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1236573	NM_004643.4(PABPN1):c.882-132A>G	BCL2L2-PABPN1, PABPN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1300780	NM_004643.4(PABPN1):c.*77del	BCL2L2-PABPN1, PABPN1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2424248	NC_000014.8:g.(?_23586696)_(23902941_?)del	BCL2L2, BCL2L2-PABPN1 +14 more	Deletion	Specific granule deficiency	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527805	GRCh37/hg19 14q11.2(chr14:23590841-23823265)	BCL2L2, BCL2L2-PABPN1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	NGDN, OR10G2 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	CIDEB, MIR208A +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 978416	NM_004643.3:c.3GGC[(8_13)]	PABPN1	Microsatellite	Oculopharyngeal muscular dystrophy	GPathogenic

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Items: 86