42960[HGNC] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 2277559	NM_145165.3(CHURC1):c.28G>A (p.Glu10Lys)	CHURC1, CHURC1-FNTB (E10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286630	NM_145165.3(CHURC1):c.35C>T (p.Ser12Leu)	CHURC1, CHURC1-FNTB (S12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722157	NM_001386928.1(CHURC1):c.60T>A (p.Asn20Lys)	CHURC1, CHURC1-FNTB (N47K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 782958	NM_001386928.1(CHURC1):c.170A>G (p.Tyr57Cys)	CHURC1, CHURC1-FNTB (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3267298	NM_001386928.1(CHURC1):c.250T>C (p.Tyr84His)	CHURC1, CHURC1-FNTB (Y84H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291162	NM_001386928.1(CHURC1):c.258G>A (p.Met86Ile)	CHURC1, CHURC1-FNTB (A63T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403674	NM_001386928.1(CHURC1):c.274G>A (p.Gly92Ser)	CHURC1, CHURC1-FNTB (G92S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540953	NM_001386928.1(CHURC1):c.283G>A (p.Glu95Lys)	CHURC1, CHURC1-FNTB (E96K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360986	NM_001386928.1(CHURC1):c.295A>G (p.Ser99Gly)	CHURC1, CHURC1-FNTB (S99G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144862	NM_001386928.1(CHURC1):c.296G>C (p.Ser99Thr)	CHURC1, CHURC1-FNTB (Q75H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510954	NM_001386928.1(CHURC1):c.317G>A (p.Arg106Gln)	CHURC1, CHURC1-FNTB (R106Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2313080	NM_002083.4(GPX2):c.551G>T (p.Arg184Leu)	CHURC1-FNTB, GPX2 (R184L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102103	NM_002083.4(GPX2):c.512G>A (p.Arg171His)	CHURC1-FNTB, GPX2 (R171H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588207	NM_002083.4(GPX2):c.439C>T (p.Arg147Cys)	CHURC1-FNTB, GPX2 (R147C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404725	NM_002083.4(GPX2):c.413A>G (p.Lys138Arg)	CHURC1-FNTB, GPX2 (K138R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102102	NM_002083.4(GPX2):c.335A>T (p.Glu112Val)	CHURC1-FNTB, GPX2 (E112V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102101	NM_002083.4(GPX2):c.334G>A (p.Glu112Lys)	CHURC1-FNTB, GPX2 (E112K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357728	NM_002083.4(GPX2):c.167G>A (p.Arg56His)	CHURC1-FNTB, GPX2 (R56H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102100	NM_002083.4(GPX2):c.134G>A (p.Arg45Gln)	CHURC1-FNTB, GPX2 (R45Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102106	NM_002083.4(GPX2):c.91G>A (p.Val31Met)	CHURC1-FNTB, GPX2 (V31M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102105	NM_002083.4(GPX2):c.74C>T (p.Thr25Met)	CHURC1-FNTB, GPX2 (T25M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102104	NM_002083.4(GPX2):c.74C>A (p.Thr25Lys)	CHURC1-FNTB, GPX2 (T25K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480988	NM_002083.4(GPX2):c.31C>T (p.Leu11Phe)	CHURC1-FNTB, GPX2 (L11F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590738	NM_002083.4(GPX2):c.11T>C (p.Ile4Thr)	CHURC1-FNTB, GPX2 (I4T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150613	NM_001308154.2(RAB15):c.470A>G (p.Asn157Ser)	CHURC1-FNTB, RAB15 (N111S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216149	NM_001308154.2(RAB15):c.327C>T (p.Tyr109=)	CHURC1-FNTB, RAB15 (T153M)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3150612	NM_001308154.2(RAB15):c.324+23C>T	CHURC1-FNTB, RAB15 (P116L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150611	NM_001308154.2(RAB15):c.316G>A (p.Val106Met)	CHURC1-FNTB, RAB15 (V106M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547774	NM_001308154.2(RAB15):c.299T>C (p.Met100Thr)	CHURC1-FNTB, RAB15 (M100T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312095	NM_001308154.2(RAB15):c.277G>A (p.Glu93Lys)	CHURC1-FNTB, RAB15 (E47K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 147881	GRCh38/hg38 14q23.3(chr14:64952923-66295289)x3	CHURC1-FNTB, FNTB +57 more	Copy number gain	See cases	GUncertain significance
Select item 3150610	NM_001308154.2(RAB15):c.100C>T (p.His34Tyr)	CHURC1-FNTB, RAB15 (H34Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346866	NM_001308154.2(RAB15):c.79C>G (p.Arg27Gly)	CHURC1-FNTB, RAB15 (R27G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486145	NM_001308154.2(RAB15):c.19G>A (p.Val7Met)	CHURC1-FNTB, RAB15 (V7M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312096	NM_001308154.2(RAB15):c.14A>G (p.Tyr5Cys)	CHURC1-FNTB, RAB15 (Y5C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519608	NM_002028.4(FNTB):c.26A>G (p.Tyr9Cys)	CHURC1-FNTB, FNTB (Y9C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397916	NM_002028.4(FNTB):c.29A>G (p.Tyr10Cys)	CHURC1-FNTB, FNTB (Y10C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541644	NM_002028.4(FNTB):c.64C>T (p.Pro22Ser)	CHURC1-FNTB, FNTB (P22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485722	NM_002028.4(FNTB):c.85G>A (p.Glu29Lys)	CHURC1-FNTB, FNTB (E29K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096168	NM_002028.4(FNTB):c.97G>C (p.Glu33Gln)	CHURC1-FNTB, FNTB (E33Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550573	NM_002028.4(FNTB):c.136A>T (p.Ile46Leu)	CHURC1-FNTB, FNTB (I46L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096167	NM_002028.4(FNTB):c.137T>C (p.Ile46Thr)	CHURC1-FNTB, FNTB (I46T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1245444	NM_197957.4(MAX):c.46_47dup	LOC126861966, CHURC1-FNTB +2 more	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1233463	NM_197957.4(MAX):c.*47dup	CHURC1-FNTB, FNTB +2 more	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2582922	NM_197957.4(MAX):c.213T>G (p.Tyr71Ter)	CHURC1-FNTB, FNTB +2 more (Y62* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1692098	NM_002028.4(FNTB):c.209+1976G>T	CHURC1-FNTB, FNTB +2 more	Single nucleotide variant (intron variant)	Pheochromocytoma +1 more	GLikely benign
Select item 1233970	NM_197957.4(MAX):c.172-194C>T	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1802848	NM_001202559.1(CHURC1-FNTB):c.465+8C>A	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2575320	NM_001202559.1(CHURC1-FNTB):c.789-16G>A	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2644327	NM_002028.4(FNTB):c.672C>T (p.Gly224=)	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644328	NM_002028.4(FNTB):c.915G>A (p.Ala305=)	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644329	NM_002028.4(FNTB):c.990C>T (p.Phe330=)	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1706498	GRCh37/hg19 14q23.2-23.3(chr14:64016496-65834490)x3	AKAP5, CHURC1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 65