ClinVar for Gene (Select 328) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2644051	NM_001641.4(APEX1):c.*2A>T	APEX1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2621516	NM_001641.4(APEX1):c.134A>C (p.Tyr45Ser)	APEX1 (Y45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524797	NM_001641.4(APEX1):c.47A>C (p.Glu16Ala)	APEX1 (E16A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517626	NM_001641.4(APEX1):c.496G>A (p.Val166Met)	APEX1 (V166M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	PNP, RNASE12 +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2383992	NM_001641.4(APEX1):c.433G>A (p.Gly145Ser)	APEX1 (G145S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363639	NM_001641.4(APEX1):c.391G>A (p.Val131Met)	APEX1 (V131M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272881	NM_001641.4(APEX1):c.37G>A (p.Asp13Asn)	APEX1 (D13N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245850	NM_001641.4(APEX1):c.368C>T (p.Ser123Leu)	APEX1 (S123L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1527801	GRCh37/hg19 14q11.2(chr14:20664697-21017250)	APEX1, CCNB1IP1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1297236	NM_001641.4(APEX1):c.444T>G (p.Asp148Glu)	APEX1 (D148E)	Single nucleotide variant (missense variant)	APEX1-related condition +1 more	GBenign
Select item 1274915	NM_001641.4(APEX1):c.246+174T>C	APEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234224	NM_001641.4(APEX1):c.246+189T>A	APEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
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 771467	NM_001641.4(APEX1):c.190A>G (p.Ile64Val)	APEX1 (I64V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 748060	NM_001641.4(APEX1):c.426T>G (p.Val142=)	APEX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746432	NM_001641.4(APEX1):c.786T>C (p.Tyr262=)	APEX1, LOC124958010	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735527	NM_001641.4(APEX1):c.303G>A (p.Glu101=)	APEX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730773	NM_001641.4(APEX1):c.945C>T (p.Tyr315=)	APEX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724013	NM_001641.4(APEX1):c.445G>A (p.Glu149Lys)	APEX1 (E149K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 715662	NM_001641.4(APEX1):c.807T>C (p.Tyr269=)	APEX1, LOC124958010	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 709908	NM_001641.4(APEX1):c.721G>A (p.Gly241Arg)	LOC124958010, APEX1 (G241R)	Single nucleotide variant (missense variant)	APEX1-related condition +1 more	GBenign
Select item 685568	GRCh37/hg19 14q11.2(chr14:20511672-21174548)x3	ANG, APEX1 +25 more	Copy number gain	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443999	NM_001641.4(APEX1):c.259G>C (p.Glu87Gln)	APEX1 (E87Q)	Single nucleotide variant (missense variant)	Head and neck cancer	Gnot provided
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 221495	GRCh37/hg19 14q11.2(chr14:20922785-20937690)x3	PNP, APEX1 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 127059	NM_001641.4(APEX1):c.441C>T (p.Gly147=)	APEX1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
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 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46