SYNJ2BP[gene] - ClinVar - NCBI

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Items: 13

	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 2376950	NM_018373.3(SYNJ2BP):c.424C>T (p.Arg142Trp)	SYNJ2BP, SYNJ2BP-COX16 (R142W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591891	NM_018373.3(SYNJ2BP):c.398T>C (p.Val133Ala)	SYNJ2BP, SYNJ2BP-COX16 (V133A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384797	NM_001202547.2(SYNJ2BP-COX16):c.256C>T (p.Arg86Cys)	SYNJ2BP, SYNJ2BP-COX16 (R86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685493	GRCh37/hg19 14q24.2(chr14:70651622-70949256)x1	ADAM21, COX16 +2 more	Copy number loss	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 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 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic