"GeneDx"[submitter] AND "PROKR2"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58966	GRCh38/hg38 20p13-12.3(chr20:5030412-5435054)x3	CDS2, LINC00658 +20 more	Copy number gain	See cases	GUncertain significance
Select item 1250628	NM_144773.4(PROKR2):c.*128G>A	PROKR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1232229	NM_144773.4(PROKR2):c.*127T>C	PROKR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1240794	NM_144773.4(PROKR2):c.*86A>G	PROKR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1291545	NM_144773.4(PROKR2):c.*67T>A	PROKR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 338851	NM_144773.4(PROKR2):c.1122C>A (p.Thr374=)	PROKR2	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +2 more	GBenign
Select item 895677	NM_144773.4(PROKR2):c.1111G>A (p.Gly371Arg)	PROKR2 (G371R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 895676	NM_144773.4(PROKR2):c.1111G>C (p.Gly371Arg)	PROKR2 (G371R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 338852	NM_144773.4(PROKR2):c.1110C>T (p.Asn370=)	PROKR2	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +2 more	GBenign
Select item 1012475	NM_144773.4(PROKR2):c.1058G>A (p.Arg353His)	PROKR2 (R353H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338854	NM_144773.4(PROKR2):c.991G>A (p.Val331Met)	PROKR2 (V331M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 897086	NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser)	PROKR2 (P290S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 1306109	NM_144773.4(PROKR2):c.803G>A (p.Arg268His)	PROKR2 (R268H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GUncertain significance
Select item 282345	NM_144773.4(PROKR2):c.802C>T (p.Arg268Cys)	PROKR2 (R268C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1303090	NM_144773.4(PROKR2):c.779C>T (p.Thr260Met)	PROKR2 (T260M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707720	NM_144773.4(PROKR2):c.613A>C (p.Lys205Gln)	PROKR2 (K205Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 338858	NM_144773.4(PROKR2):c.585G>C (p.Thr195=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1306542	NM_144773.4(PROKR2):c.537G>A (p.Met179Ile)	PROKR2 (M179I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 156564	NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser)	PROKR2 (W178S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 138812	NM_144773.4(PROKR2):c.525C>G (p.Ala175=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3449	NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)	PROKR2 (L173R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 338859	NM_144773.4(PROKR2):c.465C>T (p.Leu155=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1220753	NM_144773.4(PROKR2):c.459-252T>C	PROKR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219306	NM_144773.4(PROKR2):c.459-264G>A	PROKR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276919	NM_144773.4(PROKR2):c.458+261C>T	PROKR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247804	NM_144773.4(PROKR2):c.458+235G>A	PROKR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262872	NM_144773.4(PROKR2):c.458+143A>T	PROKR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225972	NM_144773.4(PROKR2):c.458+126T>C	PROKR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241014	NM_144773.4(PROKR2):c.458+97C>T	PROKR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237865	NM_144773.4(PROKR2):c.458+62G>A	PROKR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 279994	NM_144773.4(PROKR2):c.458+1G>A	PROKR2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 818210	NM_144773.4(PROKR2):c.403C>T (p.Arg135Cys)	PROKR2 (R135C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 695243	NM_144773.4(PROKR2):c.375C>T (p.His125=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3451	NM_144773.4(PROKR2):c.254G>A (p.Arg85His)	PROKR2 (R85H)	Single nucleotide variant (missense variant)	PROKR2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 338864	NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly)	PROKR2 (R85G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 156562	NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys)	PROKR2 (R85C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3452	NM_144773.4(PROKR2):c.58del (p.His20fs)	PROKR2 (H20fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GConflicting classifications of pathogenicity
Select item 1250395	NM_144773.4(PROKR2):c.-8-40C>T	PROKR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378431	NM_144773.4(PROKR2):c.-8-41C>A	PROKR2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

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Items: 41