ClinVar for Gene (Select 5928) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172662	NM_030786.3(SYNC):c.1387C>G (p.Gln463Glu)	RBBP4, SYNC (Q463E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152048	NM_005610.3(RBBP4):c.343A>T (p.Ile115Phe)	RBBP4 (I114F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685410	GRCh37/hg19 1p35.1(chr1:33099109-33528691)x1	HPCA, AK2 +9 more	Copy number loss	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2518671	NM_005610.3(RBBP4):c.1252G>A (p.Val418Met)	RBBP4 (V418M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487930	NM_030786.3(SYNC):c.1292A>G (p.Gln431Arg)	RBBP4, SYNC (Q431R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2306637	NM_030786.3(SYNC):c.1336G>A (p.Ala446Thr)	RBBP4, SYNC (A446T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1272785	NM_005610.3(RBBP4):c.1212+14A>C	RBBP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263039	NM_005610.3(RBBP4):c.453T>C (p.Val151=)	RBBP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic