23514[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +86 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 154202	GRCh38/hg38 8q11.1-11.21(chr8:46389911-47265481)x3	IGLV8OR8-1, LINC00293 +6 more	Copy number gain	See cases	GUncertain significance
Select item 146417	GRCh38/hg38 8q11.1-11.21(chr8:46709224-47276395)x3	IGLV8OR8-1, LINC00293 +6 more	Copy number gain	See cases	GUncertain significance
Select item 150289	GRCh38/hg38 8q11.1-11.21(chr8:47071019-47276395)x3	IGLV8OR8-1, LOC100287846 +2 more	Copy number gain	See cases	GLikely benign
Select item 144312	GRCh38/hg38 8q11.1-11.21(chr8:47142202-47673614)x3	IGLV8OR8-1, LOC100287846 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2351479	NM_001080394.4(SPIDR):c.7C>A (p.Arg3Ser)	LOC130000324, SPIDR (R3S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298265	NM_001080394.4(SPIDR):c.14G>A (p.Ser5Asn)	LOC130000324, SPIDR (S5N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 144952	GRCh38/hg38 8q11.21(chr8:47276396-47303590)x3	LOC130000325, SPIDR	Copy number gain	See cases	GBenign
Select item 2362024	NM_001080394.4(SPIDR):c.35G>A (p.Arg12Lys)	SPIDR (R12K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2562205	NM_001080394.4(SPIDR):c.97A>G (p.Arg33Gly)	SPIDR (R33G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2238466	NM_001080394.4(SPIDR):c.121G>T (p.Ala41Ser)	SPIDR (A41S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2462673	NM_001080394.4(SPIDR):c.131C>T (p.Ser44Phe)	SPIDR (S44F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2410202	NM_001080394.4(SPIDR):c.202G>A (p.Glu68Lys)	SPIDR (E68K +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2545106	NM_001080394.4(SPIDR):c.212C>T (p.Thr71Met)	SPIDR (T11M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2237922	NM_001080394.4(SPIDR):c.220G>C (p.Glu74Gln)	SPIDR (E14Q +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3026800	NM_001080394.4(SPIDR):c.256+7A>G	SPIDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2568734	NM_001080394.4(SPIDR):c.295A>G (p.Ile99Val)	SPIDR (I29V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532363	NM_001080394.4(SPIDR):c.305G>T (p.Ser102Ile)	SPIDR (S32I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2218561	NM_001080394.4(SPIDR):c.334G>C (p.Asp112His)	SPIDR (D52H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269386	NM_001080394.4(SPIDR):c.439G>A (p.Glu147Lys)	SPIDR (E147K +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 3052088	NM_001080394.4(SPIDR):c.526-1387G>A	SPIDR (E125K)	Single nucleotide variant (missense variant +2 more)	SPIDR-related disorder	GLikely benign
Select item 3026801	NM_001080394.4(SPIDR):c.526-8T>C	SPIDR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3169118	NM_001080394.4(SPIDR):c.559G>A (p.Asp187Asn)	SPIDR (D127N +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2342435	NM_001080394.4(SPIDR):c.563G>A (p.Ser188Asn)	SPIDR (S148N +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3322228	NM_001080394.4(SPIDR):c.617A>G (p.His206Arg)	SPIDR (H166R +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 740394	NM_001080394.4(SPIDR):c.639A>G (p.Ala213=)	SPIDR	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1255998	NM_001080394.4(SPIDR):c.776+1G>T	SPIDR	Single nucleotide variant (splice donor variant +1 more)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1328491	NM_001080394.4(SPIDR):c.814C>T (p.Arg272Ter)	SPIDR (R108* +5 more)	Single nucleotide variant (nonsense +3 more)	Ovarian dysgenesis 9	GPathogenic
Select item 1328490	NM_001080394.4(SPIDR):c.839G>A (p.Trp280Ter)	SPIDR (W116* +5 more)	Single nucleotide variant (nonsense +3 more)	Ovarian dysgenesis 9	GPathogenic
Select item 769340	NM_001080394.4(SPIDR):c.877+6G>A	SPIDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 144939	GRCh38/hg38 8q11.21(chr8:47414028-47609983)x1	LOC130000327, LOC130000328 +2 more	Copy number loss	See cases	GBenign/Likely benign
Select item 728390	NM_001080394.4(SPIDR):c.884A>C (p.Lys295Thr)	SPIDR (K131T +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 2228959	NM_001080394.4(SPIDR):c.890G>A (p.Gly297Asp)	SPIDR (G227D +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 788671	NM_001080394.4(SPIDR):c.947T>A (p.Met316Lys)	SPIDR (M276K +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2222945	NM_001080394.4(SPIDR):c.992G>A (p.Ser331Asn)	SPIDR (S271N +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169105	NM_001080394.4(SPIDR):c.1063C>T (p.Arg355Cys)	SPIDR (R183C +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 742252	NM_001080394.4(SPIDR):c.1078G>C (p.Val360Leu)	SPIDR (V110L +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 713793	NM_001080394.4(SPIDR):c.1083G>C (p.Arg361=)	SPIDR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2606195	NM_001080394.4(SPIDR):c.1085T>A (p.Ile362Asn)	SPIDR (I112N +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2320184	NM_001080394.4(SPIDR):c.1108A>G (p.Ile370Val)	SPIDR (I120V +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3322231	NM_001080394.4(SPIDR):c.1180T>G (p.Ser394Ala)	SPIDR (S175A +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2261559	NM_001080394.4(SPIDR):c.1180T>C (p.Ser394Pro)	SPIDR (S83P +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568985	NM_001080394.4(SPIDR):c.1238C>T (p.Ser413Phe)	SPIDR (S171F +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623734	NM_001080394.4(SPIDR):c.1258A>G (p.Ile420Val)	SPIDR (I201V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169106	NM_001080394.4(SPIDR):c.1312G>C (p.Ala438Pro)	LOC130000329, SPIDR (A196P +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169107	NM_001080394.4(SPIDR):c.1315A>G (p.Thr439Ala)	LOC130000329, SPIDR (T189A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275336	NM_001080394.4(SPIDR):c.1361G>A (p.Arg454His)	LOC130000329, SPIDR (R204H +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2384866	NM_001080394.4(SPIDR):c.1388A>T (p.Asp463Val)	SPIDR (D213V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2226058	NM_001080394.4(SPIDR):c.1391C>A (p.Ser464Tyr)	SPIDR (S245Y +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398249	NM_001080394.4(SPIDR):c.1405G>T (p.Val469Leu)	SPIDR (V219L +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224952	NM_001080394.4(SPIDR):c.1448G>A (p.Arg483Gln)	SPIDR (R172Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169109	NM_001080394.4(SPIDR):c.1537G>A (p.Gly513Arg)	SPIDR (G263R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2337355	NM_001080394.4(SPIDR):c.1550G>C (p.Cys517Ser)	SPIDR (C267S +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169110	NM_001080394.4(SPIDR):c.1565A>G (p.Asp522Gly)	SPIDR (D27G +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570085	NM_001080394.4(SPIDR):c.1592A>T (p.His531Leu)	SPIDR (H461L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596712	NM_001080394.4(SPIDR):c.1610C>T (p.Ser537Leu)	SPIDR (S318L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2324302	NM_001080394.4(SPIDR):c.1639T>C (p.Cys547Arg)	SPIDR (C131R +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1176555	NM_001080394.4(SPIDR):c.1648G>C (p.Val550Leu)	SPIDR (V134L +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2295528	NM_001080394.4(SPIDR):c.1696A>T (p.Ile566Phe)	SPIDR (I150F +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209376	NM_001080394.4(SPIDR):c.1754G>A (p.Arg585His)	SPIDR (R169H +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 781780	NM_001080394.4(SPIDR):c.1773+9G>A	SPIDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151956	GRCh38/hg38 8q11.21(chr8:47701537-47918282)x3	CEBPD, LOC121740717 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2467250	NM_001080394.4(SPIDR):c.1855G>A (p.Glu619Lys)	SPIDR (E124K +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594088	NM_001080394.4(SPIDR):c.1894C>T (p.Arg632Cys)	SPIDR (R216C +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279530	NM_001080394.4(SPIDR):c.1933A>C (p.Thr645Pro)	SPIDR (T120P +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786121	NM_001080394.4(SPIDR):c.1954A>G (p.Thr652Ala)	SPIDR (T488A +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 725596	NM_001080394.4(SPIDR):c.1977+25_1977+32del	SPIDR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 731973	NM_001080394.4(SPIDR):c.1978-10C>T	SPIDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 722294	NM_001080394.4(SPIDR):c.1978-8A>C	SPIDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2386547	NM_001080394.4(SPIDR):c.1986T>A (p.Ser662Arg)	SPIDR (S137R +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322229	NM_001080394.4(SPIDR):c.1997T>C (p.Leu666Pro)	SPIDR (L141P +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278521	NM_001080394.4(SPIDR):c.2029G>A (p.Asp677Asn)	SPIDR (D152N +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169112	NM_001080394.4(SPIDR):c.2068C>T (p.Leu690Phe)	SPIDR (L165F +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291835	NM_001080394.4(SPIDR):c.2098C>T (p.Pro700Ser)	SPIDR (P284S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2353668	NM_001080394.4(SPIDR):c.2130G>T (p.Glu710Asp)	SPIDR (E710D +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1176556	NM_001080394.4(SPIDR):c.2192G>A (p.Arg731Gln)	SPIDR (R206Q +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2266584	NM_001080394.4(SPIDR):c.2200T>G (p.Cys734Gly)	SPIDR (C209G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1255999	NM_001080394.4(SPIDR):c.2265del (p.Cys756fs)	SPIDR (C261fs +12 more)	Deletion (frameshift variant +1 more)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 747410	NM_001080394.4(SPIDR):c.2270A>G (p.Glu757Gly)	SPIDR (E446G +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2466669	NM_001080394.4(SPIDR):c.2293G>A (p.Asp765Asn)	SPIDR (D601N +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483620	NM_001080394.4(SPIDR):c.2321A>T (p.Asn774Ile)	SPIDR (N249I +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658589	NM_001080394.4(SPIDR):c.2410A>C (p.Arg804=)	SPIDR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 726504	NM_001080394.4(SPIDR):c.2426C>T (p.Pro809Leu)	SPIDR (P284L +12 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2327989	NM_001080394.4(SPIDR):c.2428G>A (p.Glu810Lys)	SPIDR (E750K +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169114	NM_001080394.4(SPIDR):c.2455G>A (p.Asp819Asn)	SPIDR (D324N +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224029	NM_001080394.4(SPIDR):c.2542A>G (p.Lys848Glu)	SPIDR (K353E +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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