ClinVar for Gene (Select 5534) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217818	NM_000945.4(PPP3R1):c.50C>T (p.Ala17Val)	PPP3R1 (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062658	GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	AAK1, ANTXR1 +24 more	Copy number loss	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1284063	NM_000945.4(PPP3R1):c.*169T>C	PPP3R1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1184810	GRCh37/hg19 2p14-13.3(chr2:68475209-68676657)x3	PPP3R1, CNRIP1 +1 more	Copy number gain	Bilateral sensorineural hearing impairment	GUncertain significance
Select item 1181494	NM_000945.4(PPP3R1):c.99C>T (p.Asp33=)	PPP3R1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625545	GRCh37/hg19 2p14-13.3(chr2:67491378-69679404)	ANTXR1, APLF +15 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 156571	NM_000945.4(PPP3R1):c.4-1055_4-1051del	PPP3R1	Deletion (intron variant)	not provided	Gnot provided
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic