PROK2[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ROBO1, ROBO2 +481 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 57773	GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1	LOC129937044, LOC129937045 +110 more	Copy number loss	See cases	GPathogenic
Select item 148629	GRCh38/hg38 3p13(chr3:70943620-71861889)x1	EIF4E3, FOXP1 +29 more	Copy number loss	See cases	GPathogenic
Select item 154117	GRCh38/hg38 3p13(chr3:71124507-71892267)x3	EIF4E3, FOXP1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 154582	GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1	CNTN3, EBLN2 +94 more	Copy number loss	See cases	GPathogenic
Select item 1215646	NM_001126128.2(PROK2):c.*221T>G	PROK2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1239728	NM_001126128.2(PROK2):c.*164dup	PROK2	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1220791	NM_001126128.2(PROK2):c.*164del	PROK2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1219630	NM_001126128.2(PROK2):c.163_164del	PROK2	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1211683	NM_001126128.2(PROK2):c.*136T>C	PROK2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1336006	NM_001126128.2(PROK2):c.*2C>T	PROK2	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2634865	NM_001126128.2(PROK2):c.365G>A (p.Arg122Gln)	PROK2 (R101Q +1 more)	Single nucleotide variant (missense variant)	PROK2-related condition	GUncertain significance
Select item 1365882	NM_001126128.2(PROK2):c.364C>T (p.Arg122Ter)	PROK2 (R101* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 695610	NM_001126128.2(PROK2):c.332C>A (p.Pro111Gln)	PROK2 (P90Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2690979	NM_001126128.2(PROK2):c.313C>T (p.His105Tyr)	PROK2 (H105Y +1 more)	Single nucleotide variant (missense variant)	Male infertility with spermatogenesis disorder	GLikely pathogenic
Select item 1415394	NM_001126128.2(PROK2):c.302G>A (p.Arg101Gln)	PROK2 (R101Q +1 more)	Single nucleotide variant (missense variant)	PROK2-related condition +1 more	GUncertain significance
Select item 1303091	NM_001126128.2(PROK2):c.301C>T (p.Arg101Trp)	PROK2 (R101W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 420068	NM_001126128.2(PROK2):c.297dup (p.Gly100fs)	PROK2 (G100fs +1 more)	Duplication (frameshift variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2309812	NM_001126128.2(PROK2):c.297del (p.Phe99fs)	PROK2 (F78fs +1 more)	Deletion (frameshift variant)	PROK2-related condition +1 more	GUncertain significance
Select item 3036373	NM_001126128.2(PROK2):c.296T>C (p.Phe99Ser)	PROK2 (F78S +1 more)	Single nucleotide variant (missense variant)	PROK2-related condition	GLikely benign
Select item 1249749	NM_001126128.2(PROK2):c.286-277C>T	PROK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200725	NM_001126128.2(PROK2):c.285+238G>C	PROK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278909	NM_001126128.2(PROK2):c.285+14G>A	PROK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2729873	NM_001126128.2(PROK2):c.285+13C>T	PROK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2548558	NM_001126128.2(PROK2):c.227A>G (p.Asn76Ser)	PROK2 (N76S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3041834	NM_001126128.2(PROK2):c.223-2A>G	PROK2	Single nucleotide variant (intron variant +1 more)	PROK2-related condition	GLikely pathogenic
Select item 1976075	NM_001126128.2(PROK2):c.223-19G>T	PROK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239048	NM_001126128.2(PROK2):c.223-205C>A	PROK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674239	NM_001126128.2(PROK2):c.222+277A>G	PROK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3030705	NM_001126128.2(PROK2):c.218G>A (p.Arg73His)	PROK2 (R73H)	Single nucleotide variant (missense variant)	PROK2-related condition	GUncertain significance
Select item 3604	NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys)	PROK2 (R73C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2469598	NM_001126128.2(PROK2):c.215C>T (p.Thr72Ile)	PROK2 (T72I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2977316	NM_001126128.2(PROK2):c.212T>C (p.Leu71Pro)	PROK2 (L71P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306831	NM_001126128.2(PROK2):c.205C>T (p.His69Tyr)	PROK2 (H69Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248655	NM_001126128.2(PROK2):c.185G>A (p.Gly62Asp)	PROK2 (G62D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1344741	NM_001126128.2(PROK2):c.181A>G (p.Met61Val)	PROK2 (M61V)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 3603	NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)	PROK2	Deletion (nonsense)	PROK2-related condition +3 more	GPathogenic
Select item 3044048	NM_001126128.2(PROK2):c.124G>C (p.Gly42Arg)	PROK2 (G42R)	Single nucleotide variant (missense variant)	PROK2-related condition	GUncertain significance
Select item 2690980	NM_001126128.2(PROK2):c.122G>A (p.Gly41Asp)	PROK2 (G41D)	Single nucleotide variant (missense variant)	Male infertility with spermatogenesis disorder	GLikely pathogenic
Select item 1074123	NM_001126128.2(PROK2):c.100_112del (p.Cys34fs)	PROK2 (C34fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 156561	NM_001126128.2(PROK2):c.101G>A (p.Cys34Tyr)	PROK2 (C34Y)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 4 with or without anosmia	GPathogenic
Select item 704985	NM_001126128.2(PROK2):c.99T>C (p.Ala33=)	PROK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2274358	NM_001126128.2(PROK2):c.97G>C (p.Ala33Pro)	PROK2 (A33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 703667	NM_001126128.2(PROK2):c.97-9A>G	PROK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202600	NM_001126128.2(PROK2):c.96+4A>G	PROK2	Single nucleotide variant (intron variant)	Disorder of sexual differentiation	GUncertain significance
Select item 3601	NM_001126128.2(PROK2):c.94G>C (p.Gly32Arg)	PROK2 (G32R)	Single nucleotide variant (missense variant)	PROK2-related condition	GUncertain significance
Select item 2846013	NM_001126128.2(PROK2):c.85G>A (p.Val29Met)	PROK2 (V29M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 378430	NM_001126128.2(PROK2):c.84C>G (p.Ala28=)	PROK2	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 4 with or without anosmia +2 more	GBenign/Likely benign
Select item 156560	NM_001126128.2(PROK2):c.70G>C (p.Ala24Pro)	PROK2 (A24P)	Single nucleotide variant (missense variant)	PROK2-related condition	GUncertain significance
Select item 1807454	NM_001126128.2(PROK2):c.57G>C (p.Leu19=)	PROK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3048189	NM_001126128.2(PROK2):c.33C>T (p.Leu11=)	PROK2	Single nucleotide variant (synonymous variant)	PROK2-related condition	GLikely benign
Select item 3058278	NM_001126128.2(PROK2):c.30G>T (p.Leu10=)	PROK2	Single nucleotide variant (synonymous variant)	PROK2-related condition	GLikely benign
Select item 2412041	NM_001126128.2(PROK2):c.8G>A (p.Ser3Asn)	PROK2 (S3N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1967266	NM_001126128.2(PROK2):c.7A>G (p.Ser3Gly)	PROK2 (S3G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691558	NM_001126128.2(PROK2):c.3G>A (p.Met1Ile)	PROK2 (M1I)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 1304884	NM_001126128.2(PROK2):c.-2C>A	PROK2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 801987	NM_001126128.2(PROK2):c.-4C>A	PROK2	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 4 with or without anosmia +2 more	GBenign/Likely benign
Select item 3044244	NM_001126128.2(PROK2):c.-5G>A	PROK2	Single nucleotide variant (5 prime UTR variant)	PROK2-related condition	GLikely benign
Select item 3045457	NM_001126128.2(PROK2):c.-8A>G	PROK2	Single nucleotide variant (5 prime UTR variant)	PROK2-related condition	GLikely benign
Select item 379292	NM_001126128.2(PROK2):c.-35A>G	PROK2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1254692	NC_000003.12:g.71785217C>G	PROK2	Single nucleotide variant	not provided	GLikely benign
Select item 674238	NM_001126128.1(PROK2):c.-253T>C	PROK2	Single nucleotide variant	not provided	GLikely benign
Select item 1250547	NC_000003.12:g.71785378C>G	PROK2	Single nucleotide variant	not provided	GBenign
Select item 3062672	GRCh37/hg19 3p13(chr3:70583776-72793789)x1	EIF4E3, FOXP1 +4 more	Copy number loss	not specified	GPathogenic
Select item 2685085	GRCh37/hg19 3p13(chr3:71707206-72157556)x1	EIF4E3, GPR27 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1064533	Single allele	EIF4E3, EOGT +12 more	Deletion	See cases	GPathogenic
Select item 980499	GRCh37/hg19 3p13-12.3(chr3:70938608-74660846)x3	CNTN3, EBLN2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 814454	GRCh37/hg19 3p13(chr3:71665558-72020026)x3	EIF4E3, PROK2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562782	GRCh37/hg19 3p13(chr3:70618611-72399570)x1	PROK2, GPR27 +3 more	Copy number loss	not provided	GPathogenic
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441945	GRCh37/hg19 3p13-12.3(chr3:70433832-77012164)x1	CNTN3, EBLN2 +13 more	Copy number loss	See cases	GPathogenic
Select item 394175	GRCh37/hg19 3p13-12.3(chr3:70127345-74508912)x3	CNTN3, EBLN2 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 77