PROKR2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 194

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 148627	GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1	BMP2, CASC20 +101 more	Copy number loss	See cases	GPathogenic
Select item 150823	GRCh38/hg38 20p13-12.3(chr20:4926195-5543771)x3	CDS2, LINC00654 +34 more	Copy number gain	See cases	GUncertain significance
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 148787	GRCh38/hg38 20p13-12.3(chr20:5039774-5645855)x3	CDS2, GPCPD1 +30 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 2506104	NM_144773.4(PROKR2):c.1155A>T (p.Ter385Cys)	PROKR2	Single nucleotide variant (stop lost)	not specified	GUncertain significance
Select item 2764349	NM_144773.4(PROKR2):c.1129G>A (p.Glu377Lys)	PROKR2 (E377K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1907206	NM_144773.4(PROKR2):c.1120A>G (p.Thr374Ala)	PROKR2 (T374A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430101	NM_144773.4(PROKR2):c.1113G>T (p.Gly371=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2886691	NM_144773.4(PROKR2):c.1069C>T (p.Arg357Trp)	PROKR2 (R357W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2886479	NM_144773.4(PROKR2):c.1056G>A (p.Trp352Ter)	PROKR2 (W352*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 895678	NM_144773.4(PROKR2):c.1052A>C (p.His351Pro)	PROKR2 (H351P)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 715326	NM_144773.4(PROKR2):c.1050G>A (p.Leu350=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1050416	NM_144773.4(PROKR2):c.1042A>C (p.Met348Leu)	PROKR2 (M348L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 1184526	NM_144773.4(PROKR2):c.1019C>G (p.Thr340Ser)	PROKR2 (T340S)	Single nucleotide variant (missense variant)	Amenorrhea +1 more	GConflicting classifications of pathogenicity
Select item 338853	NM_144773.4(PROKR2):c.1005G>A (p.Thr335=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1954618	NM_144773.4(PROKR2):c.1004C>T (p.Thr335Met)	PROKR2 (T335M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357487	NM_144773.4(PROKR2):c.1000G>C (p.Val334Leu)	PROKR2 (V334L)	Single nucleotide variant (missense variant)	PROKR2-related disorder	GUncertain significance
Select item 3342196	NM_144773.4(PROKR2):c.1000G>T (p.Val334Leu)	PROKR2 (V334L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1874771	NM_144773.4(PROKR2):c.1000G>A (p.Val334Met)	PROKR2 (V334M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 3453	NM_144773.4(PROKR2):c.969G>A (p.Met323Ile)	PROKR2 (M323I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GPathogenic
Select item 699964	NM_144773.4(PROKR2):c.963C>T (p.Ile321=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 338855	NM_144773.4(PROKR2):c.955G>A (p.Glu319Lys)	PROKR2 (E319K)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GUncertain significance
Select item 2579639	NM_144773.4(PROKR2):c.948C>G (p.Tyr316Ter)	PROKR2 (Y316*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 3 with or without anosmia	GLikely pathogenic
Select item 2414564	NM_144773.4(PROKR2):c.948C>T (p.Tyr316=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637063	NM_144773.4(PROKR2):c.946T>C (p.Tyr316His)	PROKR2 (Y316H)	Single nucleotide variant (missense variant)	PROKR2-related disorder	GUncertain significance
Select item 2435259	NM_144773.4(PROKR2):c.937A>G (p.Thr313Ala)	PROKR2 (T313A)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 1896000	NM_144773.4(PROKR2):c.936C>T (p.Leu312=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 338856	NM_144773.4(PROKR2):c.930C>G (p.His310Gln)	PROKR2 (H310Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 2910459	NM_144773.4(PROKR2):c.904C>T (p.Pro302Ser)	PROKR2 (P302S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 803597	NM_144773.4(PROKR2):c.889G>A (p.Val297Ile)	PROKR2 (V297I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 638189	NM_144773.4(PROKR2):c.889G>T (p.Val297Phe)	PROKR2 (V297F)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 727606	NM_144773.4(PROKR2):c.870C>A (p.Pro290=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2058853	NM_144773.4(PROKR2):c.819G>T (p.Thr273=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 338857	NM_144773.4(PROKR2):c.819G>A (p.Thr273=)	PROKR2	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 1299255	NM_144773.4(PROKR2):c.818C>A (p.Thr273Lys)	PROKR2 (T273K)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 897087	NM_144773.4(PROKR2):c.809G>A (p.Arg270His)	PROKR2 (R270H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 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 897562	NM_144773.4(PROKR2):c.797G>T (p.Arg266Leu)	PROKR2 (R266L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
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 2630400	NM_144773.4(PROKR2):c.770G>T (p.Gly257Val)	PROKR2 (G257V)	Single nucleotide variant (missense variant)	PROKR2-related disorder	GUncertain significance
Select item 1989826	NM_144773.4(PROKR2):c.770G>A (p.Gly257Glu)	PROKR2 (G257E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339711	NM_144773.4(PROKR2):c.767del (p.Pro256fs)	PROKR2 (P256fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 156565	NM_144773.4(PROKR2):c.743G>A (p.Arg248Gln)	PROKR2 (R248Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 100889	NM_144773.4(PROKR2):c.742C>T (p.Arg248Trp)	PROKR2 (R248W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 818211	NM_144773.4(PROKR2):c.728A>G (p.Tyr243Cys)	PROKR2 (Y243C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 897563	NM_144773.4(PROKR2):c.725G>A (p.Cys242Tyr)	PROKR2 (C242Y)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GUncertain significance
Select item 1678458	NM_144773.4(PROKR2):c.719C>T (p.Thr240Ile)	PROKR2 (T240I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1324963	NM_144773.4(PROKR2):c.691G>A (p.Glu231Lys)	PROKR2 (E231K)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GLikely pathogenic
Select item 696415	NM_144773.4(PROKR2):c.690C>T (p.Val230=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3310297	NM_144773.4(PROKR2):c.686G>T (p.Gly229Val)	PROKR2 (G229V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 816917	NM_144773.4(PROKR2):c.685G>C (p.Gly229Arg)	PROKR2 (G229R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GLikely pathogenic
Select item 750010	NM_144773.4(PROKR2):c.663G>A (p.Lys221=)	PROKR2	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GLikely benign
Select item 2987661	NM_144773.4(PROKR2):c.661A>C (p.Lys221Gln)	PROKR2 (K221Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 700962	NM_144773.4(PROKR2):c.654C>G (p.Leu218=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3450	NM_144773.4(PROKR2):c.629A>G (p.Gln210Arg)	PROKR2 (Q210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2832155	NM_144773.4(PROKR2):c.618C>A (p.Ile206=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2775885	NM_144773.4(PROKR2):c.604A>G (p.Ser202Gly)	PROKR2 (S202G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3310294	NM_144773.4(PROKR2):c.602A>C (p.Lys201Thr)	PROKR2 (K201T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1401673	NM_144773.4(PROKR2):c.585_586delinsCA (p.Val196Ile)	PROKR2 (V196I)	Indel (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 1432215	NM_144773.4(PROKR2):c.565G>T (p.Ala189Ser)	PROKR2 (A189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977635	NM_144773.4(PROKR2):c.564G>A (p.Ser188=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 180158	NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)	PROKR2 (S188L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 2863266	NM_144773.4(PROKR2):c.561A>G (p.Pro187=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 897564	NM_144773.4(PROKR2):c.538G>A (p.Val180Met)	PROKR2 (V180M)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GLikely benign
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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2884089	NM_144773.4(PROKR2):c.528G>C (p.Leu176Phe)	PROKR2 (L176F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697957	NM_144773.4(PROKR2):c.525C>A (p.Ala175=)	PROKR2	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 3 with or without anosmia +1 more	GLikely benign
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 436423	NM_144773.4(PROKR2):c.522C>T (p.Ile174=)	PROKR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 2553928	NM_144773.4(PROKR2):c.509C>T (p.Ala170Val)	PROKR2 (A170V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 697733	NM_144773.4(PROKR2):c.507G>A (p.Thr169=)	PROKR2	Single nucleotide variant (synonymous variant)	not provided	GBenign

<< First< Prev

Page of 2