NGB[gene] - ClinVar

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Items: 28

	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 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 2549170	NM_021257.4(NGB):c.430A>G (p.Met144Val)	NGB (M144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397157	NM_021257.4(NGB):c.418G>A (p.Val140Ile)	NGB (V140I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407715	NM_021257.4(NGB):c.320C>T (p.Ser107Leu)	NGB (S107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603421	NM_021257.4(NGB):c.281G>T (p.Arg94Met)	NGB (R94M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198893	NM_021257.4(NGB):c.244C>G (p.Leu82Val)	NGB (L82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216635	NM_021257.4(NGB):c.241G>T (p.Asp81Tyr)	NGB (D81Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386090	NM_021257.4(NGB):c.163T>C (p.Cys55Arg)	NGB (C55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299598	NM_021257.4(NGB):c.79C>G (p.Leu27Val)	NGB (L27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329312	NM_021257.4(NGB):c.58C>G (p.Pro20Ala)	NGB (P20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246021	NM_021257.4(NGB):c.8G>T (p.Arg3Leu)	NGB (R3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	GUncertain significance
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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 564094	GRCh37/hg19 14q24.3(chr14:77692709-77801431)x1	TMEM63C, NGB +2 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 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441709	GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1	ADCK1, AHSA1 +27 more	Copy number loss	See cases	GUncertain significance
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: 28