PIRC66[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 2378954	NM_001311175.2(TNFAIP8L3):c.603G>C (p.Glu201Asp)	MIR4713HG, PIRC66 +1 more (E201D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315638	NM_001311175.2(TNFAIP8L3):c.578A>G (p.Glu193Gly)	MIR4713HG, PIRC66 +1 more (E281G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180198	NM_001311175.2(TNFAIP8L3):c.545G>C (p.Gly182Ala)	MIR4713HG, PIRC66 +1 more (G182A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456307	NM_001311175.2(TNFAIP8L3):c.542A>G (p.Asp181Gly)	MIR4713HG, PIRC66 +1 more (D181G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180197	NM_001311175.2(TNFAIP8L3):c.527C>G (p.Thr176Ser)	MIR4713HG, PIRC66 +1 more (T264S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326951	NM_001311175.2(TNFAIP8L3):c.481A>G (p.Ile161Val)	MIR4713HG, PIRC66 +1 more (I161V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327469	NM_001311175.2(TNFAIP8L3):c.475G>A (p.Gly159Arg)	MIR4713HG, PIRC66 +1 more (G159R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520021	NM_001311175.2(TNFAIP8L3):c.461C>T (p.Thr154Met)	MIR4713HG, PIRC66 +1 more (T154M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392688	NM_001311175.2(TNFAIP8L3):c.452G>A (p.Arg151Gln)	MIR4713HG, PIRC66 +1 more (R151Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180196	NM_001311175.2(TNFAIP8L3):c.368A>G (p.Tyr123Cys)	MIR4713HG, PIRC66 +1 more (Y211C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370712	NM_001311175.2(TNFAIP8L3):c.349A>C (p.Met117Leu)	MIR4713HG, PIRC66 +1 more (M117L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523557	NM_001311175.2(TNFAIP8L3):c.318G>C (p.Glu106Asp)	MIR4713HG, PIRC66 +1 more (E194D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308148	NM_001311175.2(TNFAIP8L3):c.292A>G (p.Ser98Gly)	MIR4713HG, PIRC66 +1 more (S186G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180195	NM_001311175.2(TNFAIP8L3):c.139A>G (p.Met47Val)	MIR4713HG, PIRC66 +1 more (M47V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327470	NM_001311175.2(TNFAIP8L3):c.34G>A (p.Glu12Lys)	MIR4713HG, PIRC66 +1 more (E100K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477842	NM_001311175.2(TNFAIP8L3):c.-54G>A	MIR4713HG, PIRC66 +1 more (E71K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2398332	NM_001311175.2(TNFAIP8L3):c.-86C>G	MIR4713HG, PIRC66 +1 more (P60R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2361882	NM_001311175.2(TNFAIP8L3):c.-90G>A	MIR4713HG, PIRC66 +1 more (A59T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 768709	NM_001311175.2(TNFAIP8L3):c.-118CGCCGCCCG[1]	MIR4713HG, PIRC66 +1 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 719370	NM_207381.4(TNFAIP8L3):c.172G>C (p.Ala58Pro)	PIRC66, MIR4713HG +1 more (A58P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2274635	NM_207381.4(TNFAIP8L3):c.143C>G (p.Ser48Cys)	MIR4713HG, PIRC66 +1 more (S48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404152	NM_207381.4(TNFAIP8L3):c.125C>T (p.Thr42Ile)	MIR4713HG, PIRC66 +1 more (T42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180199	NM_207381.4(TNFAIP8L3):c.80A>G (p.Asn27Ser)	MIR4713HG, PIRC66 +1 more (N27S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3180194	NM_207381.4(TNFAIP8L3):c.34G>T (p.Val12Phe)	MIR4713HG, PIRC66 +1 more (V12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399090	NM_207381.4(TNFAIP8L3):c.34G>C (p.Val12Leu)	MIR4713HG, PIRC66 +1 more (V12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345230	NM_207381.4(TNFAIP8L3):c.14G>A (p.Arg5Gln)	MIR4713HG, PIRC66 +1 more (R5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 887214	NM_000103.4(CYP19A1):c.*2723A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 316440	NM_000103.4(CYP19A1):c.*2645dup	CYP19A1, MIR4713HG +1 more	Duplication (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 887215	NM_000103.4(CYP19A1):c.*2632T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GLikely benign
Select item 887216	NM_000103.4(CYP19A1):c.*2624C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 887217	NM_000103.4(CYP19A1):c.*2607A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 888469	NM_000103.4(CYP19A1):c.*2589C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 888470	NM_000103.4(CYP19A1):c.*2536C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 888471	NM_000103.4(CYP19A1):c.*2519T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316441	NM_000103.4(CYP19A1):c.*2511G>A	MIR4713HG, PIRC66 +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency +1 more	GBenign
Select item 888472	NM_000103.4(CYP19A1):c.*2497T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316442	NM_000103.4(CYP19A1):c.*2467G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 316443	NM_000103.4(CYP19A1):c.*2274A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316444	NM_000103.4(CYP19A1):c.2258_2259insA	CYP19A1, MIR4713HG +1 more	Insertion (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 316445	NM_000103.4(CYP19A1):c.*2257A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316446	NM_000103.4(CYP19A1):c.*2192T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316447	NM_000103.4(CYP19A1):c.*2170G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 316448	NM_000103.4(CYP19A1):c.*2155T>C	MIR4713HG, PIRC66 +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 884245	NM_000103.4(CYP19A1):c.*2126G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 884246	NM_000103.4(CYP19A1):c.*2086G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 884247	NM_000103.4(CYP19A1):c.*2067T>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316449	NM_000103.4(CYP19A1):c.*2039G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency +1 more	GBenign
Select item 316450	NM_000103.4(CYP19A1):c.*2032G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 886275	NM_000103.4(CYP19A1):c.*1889A>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 886276	NM_000103.4(CYP19A1):c.*1888A>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316451	NM_000103.4(CYP19A1):c.*1888A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency +1 more	GBenign
Select item 886277	NM_000103.4(CYP19A1):c.*1878T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316452	NM_000103.4(CYP19A1):c.*1877T>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 886278	NM_000103.4(CYP19A1):c.*1833C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316453	NM_000103.4(CYP19A1):c.*1608C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316454	NM_000103.4(CYP19A1):c.*1601G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency +1 more	GBenign
Select item 887272	NM_000103.4(CYP19A1):c.*1545G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 887273	NM_000103.4(CYP19A1):c.*1441G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 887274	NM_000103.4(CYP19A1):c.*1381C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 887275	NM_000103.4(CYP19A1):c.*1364C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316455	NM_000103.4(CYP19A1):c.*1296T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 887276	NM_000103.4(CYP19A1):c.*1190C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 316456	NM_000103.4(CYP19A1):c.*1069C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316457	NM_000103.4(CYP19A1):c.*1019C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316458	NM_000103.4(CYP19A1):c.*858C>T	MIR4713HG, PIRC66 +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316459	NM_000103.4(CYP19A1):c.*747G>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 888528	NM_000103.4(CYP19A1):c.*646C>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316460	NM_000103.4(CYP19A1):c.*638G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 888529	NM_000103.4(CYP19A1):c.*543C>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GLikely benign
Select item 316461	NM_000103.4(CYP19A1):c.*483G>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316462	NM_000103.4(CYP19A1):c.*460G>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GLikely benign
Select item 316463	NM_000103.4(CYP19A1):c.*280A>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 884314	NM_000103.4(CYP19A1):c.*240C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316465	NM_000103.4(CYP19A1):c.*191C>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316464	NM_000103.4(CYP19A1):c.*191del	CYP19A1, MIR4713HG +1 more	Deletion (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316466	NM_000103.4(CYP19A1):c.*166T>A	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 316467	NM_000103.4(CYP19A1):c.*161T>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 884315	NM_000103.4(CYP19A1):c.*125T>C	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency +1 more	GUncertain significance
Select item 316468	NM_000103.4(CYP19A1):c.*108A>G	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GBenign
Select item 884316	NM_000103.4(CYP19A1):c.*78G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 886337	NM_000103.4(CYP19A1):c.*53C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GLikely benign
Select item 316469	NM_000103.4(CYP19A1):c.*19C>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase excess syndrome +2 more	GBenign
Select item 316470	NM_000103.4(CYP19A1):c.*9G>T	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (3 prime UTR variant)	Aromatase deficiency	GUncertain significance
Select item 1645488	NM_000103.4(CYP19A1):c.1512G>A (p.Ter504=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298611	NM_000103.4(CYP19A1):c.1497G>T (p.Arg499Ser)	CYP19A1, MIR4713HG +1 more (R499S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1661588	NM_000103.4(CYP19A1):c.1497G>A (p.Arg499=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2248532	NM_000103.4(CYP19A1):c.1492G>A (p.Asp498Asn)	CYP19A1, MIR4713HG +1 more (D498N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 886338	NM_000103.4(CYP19A1):c.1488C>T (p.Asn496=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1598326	NM_000103.4(CYP19A1):c.1485A>G (p.Arg495=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715214	NM_000103.4(CYP19A1):c.1479C>T (p.Thr493=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964933	NM_000103.4(CYP19A1):c.1462C>T (p.Leu488=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1153743	NM_000103.4(CYP19A1):c.1458C>T (p.Asn486=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130252	NM_000103.4(CYP19A1):c.1440C>T (p.His480=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140804	NM_000103.4(CYP19A1):c.1433C>T (p.Ser478Phe)	CYP19A1, MIR4713HG +1 more (S478F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1106853	NM_000103.4(CYP19A1):c.1431G>A (p.Leu477=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990252	NM_000103.4(CYP19A1):c.1425C>T (p.His475=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005493	NM_000103.4(CYP19A1):c.1419G>A (p.Lys473=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897711	NM_000103.4(CYP19A1):c.1416G>A (p.Gln472=)	CYP19A1, MIR4713HG +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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