ClinVar for Gene (Select 122042) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3157285	NM_130806.5(RXFP2):c.953C>T (p.Thr318Met)	RXFP2 (T294M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3157284	NM_130806.5(RXFP2):c.938C>G (p.Ser313Cys)	RXFP2 (S289C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157283	NM_130806.5(RXFP2):c.758G>A (p.Cys253Tyr)	RXFP2 (C253Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157282	NM_130806.5(RXFP2):c.59T>G (p.Phe20Cys)	RXFP2 (F20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157281	NM_130806.5(RXFP2):c.562C>A (p.Gln188Lys)	RXFP2 (Q188K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157279	NM_130806.5(RXFP2):c.2018C>T (p.Ser673Phe)	RXFP2 (S649F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157278	NM_130806.5(RXFP2):c.1990C>T (p.Arg664Trp)	RXFP2 (R640W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157277	NM_130806.5(RXFP2):c.1486C>T (p.Arg496Cys)	RXFP2 (R496C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157276	NM_130806.5(RXFP2):c.1477G>A (p.Val493Met)	RXFP2 (V493M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	ALOX5AP, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3024580	GRCh37/hg19 13q12.3-13.1(chr13:29933399-32792968)x3	ALOX5AP, B3GLCT +12 more	Copy number gain	not provided	GUncertain significance
Select item 2672536	NM_130806.5(RXFP2):c.779A>G (p.Asn260Ser)	RXFP2 (N260S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643720	NM_130806.5(RXFP2):c.1726C>T (p.Leu576Phe)	RXFP2 (L552F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643719	NM_130806.5(RXFP2):c.1622T>C (p.Ile541Thr)	RXFP2 (I517T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2637126	NM_130806.5(RXFP2):c.1190G>A (p.Arg397Gln)	RXFP2 (R373Q +1 more)	Single nucleotide variant (missense variant)	RXFP2-related disorder	GUncertain significance
Select item 2623816	NM_130806.5(RXFP2):c.110A>C (p.Gln37Pro)	RXFP2 (Q37P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540987	NM_130806.5(RXFP2):c.133T>C (p.Cys45Arg)	RXFP2 (C45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526833	NM_130806.5(RXFP2):c.227A>G (p.Asp76Gly)	RXFP2 (D76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494076	NM_130806.5(RXFP2):c.501T>A (p.Phe167Leu)	RXFP2 (F167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493964	NM_130806.5(RXFP2):c.1508T>C (p.Met503Thr)	RXFP2 (M503T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479840	NM_130806.5(RXFP2):c.869G>C (p.Arg290Thr)	RXFP2 (R290T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468799	NM_130806.5(RXFP2):c.589A>G (p.Ile197Val)	RXFP2 (I197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429750	NM_130806.5(RXFP2):c.1015A>G (p.Asn339Asp)	RXFP2 (N315D +1 more)	Single nucleotide variant (missense variant)	Bilateral cryptorchidism	GLikely pathogenic
Select item 2429749	NM_130806.5(RXFP2):c.1406del (p.Phe469fs)	RXFP2 (F445fs +1 more)	Deletion (frameshift variant)	Bilateral cryptorchidism	GPathogenic
Select item 2425229	NC_000013.10:g.(?_31033232)_(33638323_?)dup	ALOX5AP, B3GLCT +13 more	Duplication	not provided	GUncertain significance
Select item 2391533	NM_130806.5(RXFP2):c.1208C>T (p.Thr403Met)	RXFP2 (T379M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387433	NM_130806.5(RXFP2):c.841G>A (p.Asp281Asn)	RXFP2 (D281N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2385496	NM_130806.5(RXFP2):c.2075C>T (p.Thr692Ile)	RXFP2 (T692I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381466	NM_130806.5(RXFP2):c.260C>T (p.Ala87Val)	RXFP2 (A87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378925	NM_130806.5(RXFP2):c.1487G>A (p.Arg496His)	RXFP2 (R472H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374795	NM_130806.5(RXFP2):c.73A>G (p.Ile25Val)	RXFP2 (I25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368886	NM_130806.5(RXFP2):c.2091T>G (p.Phe697Leu)	RXFP2 (F697L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356304	NM_130806.5(RXFP2):c.1426A>G (p.Ile476Val)	RXFP2 (I452V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2333599	NM_130806.5(RXFP2):c.346G>A (p.Asp116Asn)	RXFP2 (D116N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309936	NM_130806.5(RXFP2):c.251G>A (p.Ser84Asn)	RXFP2 (S84N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282343	NM_130806.5(RXFP2):c.215G>A (p.Gly72Glu)	RXFP2 (G72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281690	NM_130806.5(RXFP2):c.627T>A (p.His209Gln)	RXFP2 (H209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280637	NM_130806.5(RXFP2):c.237C>G (p.Asn79Lys)	RXFP2 (N79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263279	NM_130806.5(RXFP2):c.416T>C (p.Val139Ala)	RXFP2 (V139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260685	NM_130806.5(RXFP2):c.494A>T (p.Lys165Met)	RXFP2 (K165M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259761	NM_130806.5(RXFP2):c.1090G>A (p.Glu364Lys)	RXFP2 (E340K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259542	NM_130806.5(RXFP2):c.1585A>G (p.Ser529Gly)	RXFP2 (S505G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259265	NM_130806.5(RXFP2):c.635C>A (p.Thr212Asn)	RXFP2 (T212N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251214	NM_130806.5(RXFP2):c.2257G>A (p.Val753Ile)	RXFP2 (V753I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233110	NM_130806.5(RXFP2):c.237C>A (p.Asn79Lys)	RXFP2 (N79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221905	NM_130806.5(RXFP2):c.220G>A (p.Gly74Arg)	RXFP2 (G74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810291	GRCh37/hg19 13q12.3-13.3(chr13:31841196-36667007)x3	KL, MAB21L1 +12 more	Copy number gain	not provided	Gnot provided
Select item 1713205	NC_000013.10:g.32308520_32940606del	BRCA2, FRY +2 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1294621	NM_130806.5(RXFP2):c.95-178G>A	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294600	NM_130806.5(RXFP2):c.425+103C>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291827	NM_130806.5(RXFP2):c.1002-4_1002-2dup	RXFP2	Duplication (splice acceptor variant)	not provided	GBenign
Select item 1287461	NM_130806.5(RXFP2):c.569+189A>G	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287165	NM_130806.5(RXFP2):c.2005+95T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286249	NM_130806.5(RXFP2):c.930-171C>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283483	NM_130806.5(RXFP2):c.241+120T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278229	NM_130806.5(RXFP2):c.569+159C>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277268	NM_130806.5(RXFP2):c.241+139T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275569	NM_130806.5(RXFP2):c.1810A>G (p.Ile604Val)	RXFP2 (I580V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1273620	NM_130806.5(RXFP2):c.786-222G>A	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268904	NM_130806.5(RXFP2):c.320-162G>A	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268067	NM_130806.5(RXFP2):c.242-21A>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265009	NM_130806.5(RXFP2):c.993A>G (p.Leu331=)	RXFP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1264404	NM_130806.5(RXFP2):c.1002-3_1002-2dup	RXFP2	Duplication (splice acceptor variant)	not provided	GBenign
Select item 1263119	NC_000013.11:g.31739293_31739295dup	RXFP2	Duplication	not provided	GBenign
Select item 1258695	NM_130806.5(RXFP2):c.425+186T>G	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257281	NM_130806.5(RXFP2):c.95-283T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252621	NM_130806.5(RXFP2):c.498-184T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250887	NM_130806.5(RXFP2):c.786-115_786-114insC	RXFP2	Insertion (intron variant)	not provided	GBenign
Select item 1249399	NM_130806.5(RXFP2):c.425+301del	RXFP2	Deletion (intron variant)	not provided	GBenign
Select item 1247150	NM_130806.5(RXFP2):c.1074-42T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245355	NM_130806.5(RXFP2):c.930-241T>G	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239917	NM_130806.5(RXFP2):c.320-328_320-325del	RXFP2	Deletion (intron variant)	not provided	GBenign
Select item 1239108	NM_130806.5(RXFP2):c.95-103C>G	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233360	NM_130806.5(RXFP2):c.261G>A (p.Ala87=)	RXFP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1231450	NM_130806.5(RXFP2):c.*176A>G	RXFP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1229857	NM_130806.5(RXFP2):c.425+282T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229412	NM_130806.5(RXFP2):c.929+199A>G	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229034	NM_130806.5(RXFP2):c.241+15C>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227314	NM_130806.5(RXFP2):c.569+31T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226064	NM_130806.5(RXFP2):c.319+102C>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222754	NM_130806.5(RXFP2):c.2006-284dup	RXFP2	Duplication (intron variant)	not provided	GBenign
Select item 1220918	NM_130806.5(RXFP2):c.957A>G (p.Glu319=)	RXFP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1199397	NM_130806.5(RXFP2):c.1904C>T (p.Ala635Val)	RXFP2 (A611V +1 more)	Single nucleotide variant (missense variant)	Disorder of sexual differentiation	GUncertain significance
Select item 1180526	GRCh37/hg19 13q12.3-13.2(chr13:28925153-34061696)x1	ALOX5AP, B3GLCT +22 more	Copy number loss	not provided	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 979364	GRCh37/hg19 13q13.1(chr13:32253026-32792913)x3	FRY, RXFP2	Copy number gain	not provided	GUncertain significance
Select item 778991	NM_130806.5(RXFP2):c.1858G>A (p.Ala620Thr)	RXFP2 (A596T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 776791	NM_130806.5(RXFP2):c.1145+8T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 685225	GRCh37/hg19 13q13.1(chr13:32255130-32347222)x1	RXFP2	Copy number loss	not provided	GUncertain significance
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 564034	GRCh37/hg19 13q12.3-13.1(chr13:32142634-32531624)x3	RXFP2	Copy number gain	not provided	GUncertain significance
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	PARP4, PCOTH +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic

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