CNRIP1[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
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 2603205	NM_015463.3(CNRIP1):c.391C>T (p.Arg131Trp)	CNRIP1 (R102W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146669	NM_015463.3(CNRIP1):c.367G>A (p.Val123Ile)	CNRIP1 (V123I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146668	NM_015463.3(CNRIP1):c.352G>A (p.Glu118Lys)	CNRIP1 (E118K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354814	NM_015463.3(CNRIP1):c.331T>C (p.Phe111Leu)	CNRIP1 (F82L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608329	NM_015463.3(CNRIP1):c.305G>A (p.Arg102Gln)	CNRIP1 (R102Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146667	NM_015463.3(CNRIP1):c.170T>A (p.Leu57Gln)	CNRIP1 (L57Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557008	NM_015463.3(CNRIP1):c.79G>A (p.Val27Met)	CNRIP1 (V27M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2560417	NM_015463.3(CNRIP1):c.60C>A (p.Asp20Glu)	CNRIP1 (D20E +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 689149	GRCh37/hg19 2p14(chr2:68534839-68585174)x1	CNRIP1	Copy number loss	not provided	GUncertain significance
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

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Items: 22