20620[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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)	TNFAIP8L3, 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50