5341[Gene ID] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +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 3252105	NC_000002.12:g.68218674_68450455dup	CNRIP1, LOC101927723 +22 more	Duplication	Autosomal dominant nonsyndromic hearing loss 58	GPathogenic
Select item 3214725	NM_002664.3(PLEK):c.107A>G (p.Tyr36Cys)	PLEK (Y36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393220	NM_002664.3(PLEK):c.218C>T (p.Thr73Met)	PLEK (T73M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1258238	NM_002664.3(PLEK):c.291G>T (p.Lys97Asn)	PLEK (K97N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2290378	NM_002664.3(PLEK):c.309T>G (p.Ile103Met)	PLEK (I103M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214726	NM_002664.3(PLEK):c.316G>T (p.Gly106Cys)	PLEK (G106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408883	NM_002664.3(PLEK):c.343A>G (p.Arg115Gly)	PLEK (R115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532801	NM_002664.3(PLEK):c.367A>C (p.Thr123Pro)	PLEK (T123P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507622	NM_002664.3(PLEK):c.371T>C (p.Ile124Thr)	PLEK (I124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508743	NM_002664.3(PLEK):c.481G>A (p.Val161Ile)	PLEK (V161I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466695	NM_002664.3(PLEK):c.521G>A (p.Arg174His)	PLEK (R174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769563	NM_002664.3(PLEK):c.685A>C (p.Asn229His)	PLEK (N229H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2528287	NM_002664.3(PLEK):c.713A>G (p.Lys238Arg)	PLEK (K238R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559450	NM_002664.3(PLEK):c.751T>G (p.Leu251Val)	PLEK (L251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214727	NM_002664.3(PLEK):c.940C>G (p.Leu314Val)	PLEK (L314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307472	NM_002664.3(PLEK):c.971A>T (p.His324Leu)	PLEK (H324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300046	NM_002664.3(PLEK):c.1003C>T (p.Arg335Cys)	PLEK (R335C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263918	NM_002664.3(PLEK):c.1022C>T (p.Ala341Val)	PLEK (A341V)	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 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 980979	GRCh37/hg19 2p14-13.3(chr2:68559849-68869517)x1	APLF, FBXO48 +1 more	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: 32