PROKR1[gene] - ClinVar

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Items: 49

	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 2320880	NM_138964.4(PROKR1):c.87T>G (p.His29Gln)	PROKR1 (H29Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375272	NM_138964.4(PROKR1):c.113G>A (p.Ser38Asn)	PROKR1 (S38N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600407	NM_138964.4(PROKR1):c.185A>C (p.Lys62Thr)	PROKR1 (K62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219008	NM_138964.4(PROKR1):c.239A>C (p.Asn80Thr)	PROKR1 (N80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229456	NM_138964.4(PROKR1):c.281G>A (p.Arg94His)	PROKR1 (R94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215799	NM_138964.4(PROKR1):c.355G>A (p.Glu119Lys)	PROKR1 (E119K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2313421	NM_138964.4(PROKR1):c.368A>G (p.Tyr123Cys)	PROKR1 (Y123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369939	NM_138964.4(PROKR1):c.403G>A (p.Val135Ile)	PROKR1 (V135I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219009	NM_138964.4(PROKR1):c.413C>A (p.Thr138Asn)	PROKR1 (T138N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219011	NM_138964.4(PROKR1):c.430C>T (p.Arg144Cys)	PROKR1 (R144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219012	NM_138964.4(PROKR1):c.431G>A (p.Arg144His)	PROKR1 (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559503	NM_138964.4(PROKR1):c.472A>G (p.Ile158Val)	PROKR1 (I158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216048	NM_138964.4(PROKR1):c.563C>T (p.Thr188Met)	PROKR1 (T188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219013	NM_138964.4(PROKR1):c.592G>A (p.Ala198Thr)	PROKR1 (A198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295701	NM_138964.4(PROKR1):c.632G>C (p.Ser211Thr)	PROKR1 (S211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601316	NM_138964.4(PROKR1):c.679C>A (p.Leu227Ile)	PROKR1 (L227I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 207838	NM_138964.4(PROKR1):c.689A>C (p.Lys230Thr)	PROKR1 (K230T)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2536975	NM_138964.4(PROKR1):c.755A>G (p.Tyr252Cys)	PROKR1 (Y252C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219014	NM_138964.4(PROKR1):c.772G>A (p.Glu258Lys)	PROKR1 (E258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219015	NM_138964.4(PROKR1):c.872C>G (p.Thr291Ser)	PROKR1 (T291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351060	NM_138964.4(PROKR1):c.874G>A (p.Ala292Thr)	PROKR1 (A292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277052	NM_138964.4(PROKR1):c.916G>T (p.Val306Leu)	PROKR1 (V306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396584	NM_138964.4(PROKR1):c.919C>T (p.Arg307Cys)	PROKR1 (R307C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519279	NM_138964.4(PROKR1):c.991G>C (p.Ala331Pro)	PROKR1 (A331P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609033	NM_138964.4(PROKR1):c.1015A>G (p.Thr339Ala)	PROKR1 (T339A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511342	NM_138964.4(PROKR1):c.1018C>G (p.Leu340Val)	PROKR1 (L340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599422	NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln)	PROKR1 (L340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348723	NM_138964.4(PROKR1):c.1033G>A (p.Val345Ile)	PROKR1 (V345I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525576	NM_138964.4(PROKR1):c.1052A>G (p.Lys351Arg)	PROKR1 (K351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464400	NM_138964.4(PROKR1):c.1061A>G (p.Lys354Arg)	PROKR1 (K354R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327051	NM_138964.4(PROKR1):c.1087G>T (p.Ala363Ser)	PROKR1 (A363S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391221	NM_138964.4(PROKR1):c.1112G>A (p.Ser371Asn)	PROKR1 (S371N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278191	NM_138964.4(PROKR1):c.1129A>G (p.Lys377Glu)	PROKR1 (K377E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608850	NM_138964.4(PROKR1):c.1168A>C (p.Ile390Leu)	PROKR1 (I390L)	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 1341291	GRCh37/hg19 2p13.3(chr2:68791921-68938872)x1	APLF, PROKR1	Copy number loss	not provided	GUncertain significance
Select item 814272	GRCh37/hg19 2p13.3(chr2:68652771-68957105)x1	FBXO48, APLF +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
Select item 395365	GRCh37/hg19 2p13.3(chr2:68846932-68881993)x1	PROKR1	Copy number loss	See cases	GBenign

ClinVar

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Items: 49