ClinVar for Gene (Select 286336) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277483	NM_033387.4(FAM78A):c.238A>G (p.Ile80Val)	FAM78A (I80V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277481	NM_033387.4(FAM78A):c.433G>A (p.Val145Met)	FAM78A (V96M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277480	NM_033387.4(FAM78A):c.508G>A (p.Val170Met)	FAM78A (V121M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3092526	NM_033387.4(FAM78A):c.8G>T (p.Gly3Val)	FAM78A (G3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092525	NM_033387.4(FAM78A):c.667C>T (p.Arg223Trp)	FAM78A (R174W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092524	NM_033387.4(FAM78A):c.53T>C (p.Leu18Pro)	FAM78A (L18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092523	NM_033387.4(FAM78A):c.352G>C (p.Glu118Gln)	FAM78A (E115Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092521	NM_033387.4(FAM78A):c.343G>A (p.Asp115Asn)	FAM78A (D112N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092520	NM_033387.4(FAM78A):c.28C>T (p.Pro10Ser)	FAM78A (P10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092519	NM_033387.4(FAM78A):c.26G>T (p.Trp9Leu)	FAM78A (W9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092518	NM_033387.4(FAM78A):c.176G>T (p.Ser59Ile)	FAM78A (S59I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2597954	NM_033387.4(FAM78A):c.662C>T (p.Pro221Leu)	FAM78A (P64L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483127	NM_033387.4(FAM78A):c.802C>T (p.Arg268Trp)	FAM78A (R111W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480071	NM_033387.4(FAM78A):c.38A>C (p.Glu13Ala)	FAM78A (E13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 2406325	NM_033387.4(FAM78A):c.351G>T (p.Gln117His)	FAM78A (Q114H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402138	NM_033387.4(FAM78A):c.685G>A (p.Ala229Thr)	FAM78A (A226T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383235	NM_033387.4(FAM78A):c.406G>A (p.Gly136Ser)	FAM78A (G133S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382186	NM_033387.4(FAM78A):c.496G>A (p.Val166Ile)	FAM78A (V117I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375717	NM_033387.4(FAM78A):c.695G>A (p.Arg232Gln)	FAM78A (R183Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343147	NM_033387.4(FAM78A):c.836C>T (p.Pro279Leu)	FAM78A (P122L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294509	NM_033387.4(FAM78A):c.133G>A (p.Ala45Thr)	FAM78A (A45T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287604	NM_033387.4(FAM78A):c.604G>A (p.Asp202Asn)	FAM78A (D179N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254591	NM_033387.4(FAM78A):c.757G>A (p.Ala253Thr)	FAM78A (A253T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253216	NM_033387.4(FAM78A):c.118G>A (p.Val40Met)	FAM78A (V40M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1445318	NC_000009.11:g.(?_133901652)_(134398493_?)dup	AIF1L, FAM78A +5 more	Duplication	not provided	GUncertain significance
Select item 979880	GRCh37/hg19 9q34.12-34.13(chr9:133860060-134187480)x3	AIF1L, LAMC3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 830950	NC_000009.12:g.(?_130664644)_(131523116_?)dup	ABL1, AIF1L +10 more	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GUncertain significance
Select item 815301	GRCh37/hg19 9q34.13(chr9:134035433-134400804)x3	FAM78A, PLPP7 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 625553	GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	ABL1, AIF1L +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 59909	GRCh38/hg38 9q34.13(chr9:131261516-131741175)x3	RAPGEF1, SNORD62A +57 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 62