17318[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	LINC00426, LINC00427 +118 more	Copy number loss	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	B3GLCT, BRCA2 +79 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 150405	GRCh38/hg38 13q13.1(chr13:31697065-31773113)x1	RXFP2	Copy number loss	See cases	GLikely benign
Select item 1263119	NC_000013.11:g.31739293_31739295dup	RXFP2	Duplication	not provided	GBenign
Select item 3315838	NM_130806.5(RXFP2):c.27T>A (p.His9Gln)	RXFP2 (H9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315840	NM_130806.5(RXFP2):c.41G>C (p.Arg14Thr)	RXFP2 (R14T)	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 2374795	NM_130806.5(RXFP2):c.73A>G (p.Ile25Val)	RXFP2 (I25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257281	NM_130806.5(RXFP2):c.95-283T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294621	NM_130806.5(RXFP2):c.95-178G>A	RXFP2	Single nucleotide variant (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 3315839	NM_130806.5(RXFP2):c.104T>C (p.Leu35Pro)	RXFP2 (L35P)	Single nucleotide variant (missense variant)	not specified	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 3315844	NM_130806.5(RXFP2):c.125C>T (p.Thr42Ile)	RXFP2 (T42I)	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 2282343	NM_130806.5(RXFP2):c.215G>A (p.Gly72Glu)	RXFP2 (G72E)	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 2526833	NM_130806.5(RXFP2):c.227A>G (p.Asp76Gly)	RXFP2 (D76G)	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 2233110	NM_130806.5(RXFP2):c.237C>A (p.Asn79Lys)	RXFP2 (N79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1229034	NM_130806.5(RXFP2):c.241+15C>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 1277268	NM_130806.5(RXFP2):c.241+139T>C	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 2309936	NM_130806.5(RXFP2):c.251G>A (p.Ser84Asn)	RXFP2 (S84N)	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 1233360	NM_130806.5(RXFP2):c.261G>A (p.Ala87=)	RXFP2	Single nucleotide variant (synonymous 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 1239917	NM_130806.5(RXFP2):c.320-328_320-325del	RXFP2	Deletion (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 2333599	NM_130806.5(RXFP2):c.346G>A (p.Asp116Asn)	RXFP2 (D116N)	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 1294600	NM_130806.5(RXFP2):c.425+103C>T	RXFP2	Single nucleotide variant (intron variant)	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 1229857	NM_130806.5(RXFP2):c.425+282T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249399	NM_130806.5(RXFP2):c.425+301del	RXFP2	Deletion (intron variant)	not provided	GBenign
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 1252621	NM_130806.5(RXFP2):c.498-184T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
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 3315837	NM_130806.5(RXFP2):c.553T>C (p.Cys185Arg)	RXFP2 (C185R)	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 1227314	NM_130806.5(RXFP2):c.569+31T>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 1287461	NM_130806.5(RXFP2):c.569+189A>G	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2281690	NM_130806.5(RXFP2):c.627T>A (p.His209Gln)	RXFP2 (H209Q)	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 4159	NM_130806.5(RXFP2):c.664A>C (p.Thr222Pro)	RXFP2 (T222P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 2672536	NM_130806.5(RXFP2):c.779A>G (p.Asn260Ser)	RXFP2 (N260S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1273620	NM_130806.5(RXFP2):c.786-222G>A	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 3250503	NM_130806.5(RXFP2):c.792G>A (p.Leu264=)	RXFP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3315843	NM_130806.5(RXFP2):c.803G>A (p.Arg268Lys)	RXFP2 (R268K)	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 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 1229412	NM_130806.5(RXFP2):c.929+199A>G	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 1286249	NM_130806.5(RXFP2):c.930-171C>T	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1220918	NM_130806.5(RXFP2):c.957A>G (p.Glu319=)	RXFP2	Single nucleotide variant (synonymous 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 1291827	NM_130806.5(RXFP2):c.1002-4_1002-2dup	RXFP2	Duplication (splice acceptor 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 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 1247150	NM_130806.5(RXFP2):c.1074-42T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
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 3315836	NM_130806.5(RXFP2):c.1112G>A (p.Arg371Gln)	RXFP2 (R347Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776791	NM_130806.5(RXFP2):c.1145+8T>C	RXFP2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2429749	NM_130806.5(RXFP2):c.1406del (p.Phe469fs)	RXFP2 (F445fs +1 more)	Deletion (frameshift variant)	Bilateral cryptorchidism	GPathogenic
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 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 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 2378925	NM_130806.5(RXFP2):c.1487G>A (p.Arg496His)	RXFP2 (R472H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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