C14orf28[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
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 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 149032	GRCh38/hg38 14q21.2(chr14:44283179-44978212)x3	C14orf28, FSCB +13 more	Copy number gain	See cases	GUncertain significance
Select item 153093	GRCh38/hg38 14q21.2(chr14:44504286-44924259)x1	C14orf28, FSCB +5 more	Copy number loss	See cases	GBenign
Select item 785459	NM_001017923.2(C14orf28):c.198A>G (p.Leu66=)	C14orf28, LOC101927418	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2398402	NM_001017923.2(C14orf28):c.443C>T (p.Ser148Phe)	C14orf28, LOC101927418 (S148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727384	NM_001017923.2(C14orf28):c.530C>T (p.Pro177Leu)	C14orf28, LOC101927418 (P177L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776833	NM_001017923.2(C14orf28):c.701C>T (p.Ser234Phe)	C14orf28, LOC101927418 (S234F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2229588	NM_001017923.2(C14orf28):c.844C>T (p.Leu282Phe)	C14orf28, LOC101927418 (L282F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789639	NM_001017923.2(C14orf28):c.927G>T (p.Glu309Asp)	C14orf28, LOC101927418 (E309D)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2426634	NC_000014.8:g.(?_44820816)_(45645917_?)del	C14orf28, FANCM +5 more	Deletion	Fanconi anemia	GPathogenic
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 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 815651	GRCh37/hg19 14q21.2(chr14:45361304-46896735)x3	FANCM, FKBP3 +5 more	Copy number gain	not provided	GLikely benign
Select item 564135	GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1	BRMS1L, C14orf28 +29 more	Copy number loss	not provided	GPathogenic
Select item 564115	GRCh37/hg19 14q21.2(chr14:45173770-45548335)x1	C14orf28, TOGARAM1 +1 more	Copy number loss	not provided	GUncertain significance
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
Select item 226242	GRCh37/hg19 14q21.2(chr14:44928342-45378475)	C14orf28, FSCB	Copy number loss	Abnormal esophagus morphology	GBenign

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Items: 25