161145[Gene ID] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 3326988	NM_001348543.2(TMEM229B):c.488A>G (p.His163Arg)	GPHN, TMEM229B (H207R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179203	NM_001348543.2(TMEM229B):c.470T>C (p.Leu157Pro)	GPHN, TMEM229B (L201P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326989	NM_001348543.2(TMEM229B):c.464G>A (p.Gly155Asp)	GPHN, TMEM229B (G155D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179202	NM_001348543.2(TMEM229B):c.399G>T (p.Gln133His)	GPHN, TMEM229B (Q133H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326987	NM_001348543.2(TMEM229B):c.368C>T (p.Pro123Leu)	GPHN, TMEM229B (P123L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483740	NM_001348543.2(TMEM229B):c.353T>C (p.Leu118Pro)	GPHN, TMEM229B (L118P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484446	NM_001348543.2(TMEM229B):c.348C>G (p.Ile116Met)	GPHN, TMEM229B (I160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247037	NM_001348543.2(TMEM229B):c.208C>A (p.Arg70Ser)	GPHN, TMEM229B (R114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063326	GRCh37/hg19 14q23.3-24.1(chr14:67491176-68153682)x3	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 2684732	GRCh37/hg19 14q24.1(chr14:67906151-68183185)x3	ARG2, PIGH +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684729	GRCh37/hg19 14q23.3-24.1(chr14:67443098-68423187)x3	ARG2, ATP6V1D +13 more	Copy number gain	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 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 1527823	GRCh37/hg19 14q23.3-24.1(chr14:67443801-68153682)	ARG2, ATP6V1D +10 more	Copy number gain	not specified	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 1015841	NC_000014.8:g.(?_65937790)_(68354021_?)dup	RAD51B, RDH11 +14 more	Duplication	Leber congenital amaurosis 13	GUncertain significance
Select item 815669	GRCh37/hg19 14q23.3-24.1(chr14:67331167-68451970)x3	TMEM229B, PLEKHH1 +13 more	Copy number gain	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

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Items: 22