20620[HGNC] - ClinVar

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Items: 50

	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)	MIR4713HG, PIRC66 +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 3243901	NC_000015.9:g.(?_50731271)_(51634264_?)dup	AP4E1, CYP19A1 +6 more	Duplication	not provided	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684758	GRCh37/hg19 15q21.2(chr15:50749119-51455096)x3	AP4E1, SPPL2A +4 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	AP4E1, ARPP19 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 687424	GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1	AP4E1, ARPP19 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442693	GRCh37/hg19 15q21.2(chr15:50870407-51764302)x3	AP4E1, CYP19A1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 50