85015[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic
Select item 58440	GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1	ASCC3, CCNC +53 more	Copy number loss	See cases	GPathogenic
Select item 154571	GRCh38/hg38 6q16.1-16.2(chr6:98770647-99813111)x1	CCNC, COQ3 +38 more	Copy number loss	See cases	GUncertain significance
Select item 560106	Single allele	COQ3, FAXC +28 more	Deletion	not provided	GUncertain significance
Select item 2371969	NM_001346022.3(USP45):c.2437G>A (p.Val813Ile)	USP45 (V754I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2620812	NM_001346022.3(USP45):c.2427C>A (p.Phe809Leu)	USP45 (F750L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187695	NM_001346022.3(USP45):c.2380G>T (p.Val794Leu)	TSTD3, USP45 (V735L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1684198	NM_001346022.3(USP45):c.2333A>G (p.Asn778Ser)	TSTD3, USP45 (N418S +4 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 19	GBenign
Select item 3187694	NM_001346022.3(USP45):c.2311C>T (p.Pro771Ser)	TSTD3, USP45 (P713S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187693	NM_001346022.3(USP45):c.2282C>T (p.Ser761Leu)	TSTD3, USP45 (S703L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2491398	NM_001346022.3(USP45):c.2248T>C (p.Tyr750His)	USP45 (Y691H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3233434	NM_001346022.3(USP45):c.2222C>T (p.Ser741Leu)	USP45 (S381L +4 more)	Single nucleotide variant (missense variant +2 more)	Laterality defects, autosomal dominant	GUncertain significance
Select item 2209009	NM_001346022.3(USP45):c.2128G>A (p.Asp710Asn)	USP45 (D350N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1338134	NM_001346022.3(USP45):c.2098A>C (p.Asn700His)	TSTD3, USP45 (N340H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187692	NM_001346022.3(USP45):c.2090G>T (p.Arg697Leu)	TSTD3, USP45 (R639L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455696	NM_001346022.3(USP45):c.2039C>T (p.Ala680Val)	USP45 (A679V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 599555	NM_001346022.3(USP45):c.1990G>T (p.Gly664Ter)	TSTD3, USP45 (G664* +4 more)	Single nucleotide variant (nonsense +1 more)	Short stature	GPathogenic
Select item 2567017	NM_001346022.3(USP45):c.1964C>G (p.Thr655Ser)	USP45 (T295S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047932	NM_001346022.3(USP45):c.1950G>T (p.Lys650Asn)	USP45 (K290N +4 more)	Single nucleotide variant (missense variant +1 more)	USP45-related disorder	GLikely benign
Select item 2468985	NM_001346022.3(USP45):c.1933A>T (p.Thr645Ser)	USP45 (T586S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 742059	NM_001346022.3(USP45):c.1872C>T (p.Leu624=)	USP45	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2612999	NM_001346022.3(USP45):c.1823C>A (p.Ser608Tyr)	USP45 (S549Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790582	NM_001346022.3(USP45):c.1818C>T (p.Thr606=)	USP45	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1338670	NM_001346022.3(USP45):c.1794T>G (p.Tyr598Ter)	USP45 (Y238* +4 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3331592	NM_001346022.3(USP45):c.1769T>C (p.Leu590Ser)	TSTD3, USP45 (L589S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2288659	NM_001346022.3(USP45):c.1754A>G (p.Asn585Ser)	USP45 (N584S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274673	NM_001346022.3(USP45):c.1753A>G (p.Asn585Asp)	USP45 (N526D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1684199	NM_001346022.3(USP45):c.1710A>G (p.Gly570=)	TSTD3, USP45	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 19	GBenign
Select item 1338683	NM_001346022.3(USP45):c.1709_1710delinsAG (p.Gly570Glu)	TSTD3, USP45 (G210E +4 more)	Indel (missense variant +1 more)	not specified	GUncertain significance
Select item 2361978	NM_001346022.3(USP45):c.1709G>A (p.Gly570Glu)	USP45 (G511E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464812	NM_001346022.3(USP45):c.1687C>T (p.Arg563Cys)	USP45 (R505C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 638073	NM_001346022.3(USP45):c.1636A>T (p.Lys546Ter)	TSTD3, USP45 (K546* +4 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 19	GUncertain significance
Select item 599554	NM_001346022.3(USP45):c.1567A>G (p.Ser523Gly)	TSTD3, USP45 (S523G +4 more)	Single nucleotide variant (missense variant +1 more)	Short stature	GLikely pathogenic
Select item 1684200	NM_001346022.3(USP45):c.1562G>C (p.Arg521Thr)	TSTD3, USP45 (R161T +4 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 19	GBenign
Select item 2443297	NM_001346022.3(USP45):c.1548G>T (p.Gln516His)	TSTD3, USP45 (Q156H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187691	NM_001346022.3(USP45):c.1504G>C (p.Asp502His)	TSTD3, USP45 (D142H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368300	NM_001346022.3(USP45):c.1499A>G (p.Asn500Ser)	USP45 (N140S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2598912	NM_001346022.3(USP45):c.1468A>G (p.Ser490Gly)	USP45 (S432G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613028	NM_001346022.3(USP45):c.1465G>A (p.Asp489Asn)	USP45 (D430N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490206	NM_001346022.3(USP45):c.1441C>T (p.Arg481Cys)	USP45 (R121C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443296	NM_001346022.3(USP45):c.1327C>T (p.Arg443Ter)	TSTD3, USP45 (R384* +4 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 1684201	NM_001346022.3(USP45):c.1309-26_1309-22del	USP45, TSTD3	Microsatellite (intron variant)	Leber congenital amaurosis 19	GBenign
Select item 3187690	NM_001346022.3(USP45):c.1268A>C (p.Gln423Pro)	TSTD3, USP45 (Q422P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336025	NM_001346022.3(USP45):c.1253T>C (p.Ile418Thr)	USP45 (I359T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2237179	NM_001346022.3(USP45):c.1244A>G (p.Asn415Ser)	USP45 (N357S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262996	NM_001346022.3(USP45):c.1237A>G (p.Ser413Gly)	USP45 (S354G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336026	NM_001346022.3(USP45):c.1196A>G (p.Asn399Ser)	TSTD3, USP45 (N340S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776142	NM_001346022.3(USP45):c.1194G>A (p.Met398Ile)	USP45 (M38I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3331594	NM_001346022.3(USP45):c.1172A>G (p.Lys391Arg)	TSTD3, USP45 (K31R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399726	NM_001346022.3(USP45):c.1148C>T (p.Pro383Leu)	USP45 (P325L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250100	NM_001346022.3(USP45):c.1082C>T (p.Thr361Met)	USP45 (T360M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243967	NM_001346022.3(USP45):c.1067G>A (p.Gly356Asp)	USP45 (G355D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 792044	NM_001346022.3(USP45):c.1046T>G (p.Phe349Cys)	USP45 (F348C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3187689	NM_001346022.3(USP45):c.1024A>G (p.Lys342Glu)	TSTD3, USP45 (K341E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 441010	NM_001346022.3(USP45):c.1008del (p.Val337fs)	USP45 (K7fs +2 more)	Deletion (frameshift variant +2 more)	not specified	GLikely benign
Select item 3187697	NM_001346022.3(USP45):c.983C>T (p.Thr328Ile)	TSTD3, USP45 (T328I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 638072	NM_001346022.3(USP45):c.935G>A (p.Arg312Gln)	TSTD3, USP45 (R312Q +1 more)	Single nucleotide variant (missense variant +3 more)	Leber congenital amaurosis 19	GPathogenic
Select item 2443295	NM_001346022.3(USP45):c.904C>T (p.Leu302=)	USP45	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3331593	NM_001346022.3(USP45):c.863A>G (p.Asp288Gly)	TSTD3, USP45 (D288G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2284904	NM_001346022.3(USP45):c.853C>G (p.Arg285Gly)	USP45 (R284G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 770177	NM_001346022.3(USP45):c.845+2T>C	USP45 (W283R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 599556	NM_001346022.3(USP45):c.727G>A (p.Val243Met)	TSTD3, USP45 (V243M +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 2487787	NM_001346022.3(USP45):c.703G>C (p.Asp235His)	USP45 (D234H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239958	NM_001346022.3(USP45):c.703G>A (p.Asp235Asn)	USP45 (D234N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2656781	NM_001346022.3(USP45):c.627A>G (p.Ala209=)	USP45	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1336779	NM_001346022.3(USP45):c.625G>A (p.Ala209Thr)	TSTD3, USP45 (A208T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2274766	NM_001346022.3(USP45):c.613A>G (p.Met205Val)	USP45 (M205V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1338662	NM_001346022.3(USP45):c.570_571del (p.Gly191fs)	TSTD3, USP45 (G190fs +1 more)	Microsatellite (frameshift variant +2 more)	not specified	GUncertain significance
Select item 1338205	NM_001346022.3(USP45):c.562T>G (p.Ser188Ala)	TSTD3, USP45 (S187A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3331595	NM_001346022.3(USP45):c.496A>T (p.Met166Leu)	TSTD3, USP45 (M165L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337926	NM_001346022.3(USP45):c.496A>G (p.Met166Val)	USP45 (M165V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553390	NM_001346022.3(USP45):c.439G>A (p.Val147Ile)	USP45 (V146I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187696	NM_001346022.3(USP45):c.424G>A (p.Val142Ile)	TSTD3, USP45 (V142I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224632	NM_001346022.3(USP45):c.403T>A (p.Ser135Thr)	USP45 (S135T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476402	NM_001346022.3(USP45):c.391G>A (p.Asp131Asn)	USP45 (D130N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 792045	NM_001346022.3(USP45):c.390T>C (p.Cys130=)	USP45	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1684202	NM_001346022.3(USP45):c.378-9C>T	TSTD3, USP45	Single nucleotide variant (intron variant)	Leber congenital amaurosis 19	GBenign
Select item 2438495	NM_001346022.3(USP45):c.377+5G>A	TSTD3, USP45	Single nucleotide variant (intron variant)	Leber congenital amaurosis 19	GUncertain significance
Select item 1684203	NM_001346022.3(USP45):c.199A>G (p.Lys67Glu)	TSTD3, USP45 (K66E +1 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 19	GBenign
Select item 599557	NM_001346022.3(USP45):c.178T>G (p.Ser60Ala)	TSTD3, USP45 (S60A +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 2363085	NM_001346022.3(USP45):c.92A>G (p.Asp31Gly)	USP45 (D31G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378365	NM_001346022.3(USP45):c.61A>G (p.Thr21Ala)	USP45 (T21A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3035194	NM_001346022.3(USP45):c.40G>A (p.Ala14Thr)	USP45 (A14T)	Single nucleotide variant (missense variant +2 more)	USP45-related disorder	GLikely benign
Select item 2465831	NM_001346022.3(USP45):c.20C>T (p.Thr7Ile)	USP45 (T7I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1807771	GRCh37/hg19 6q16.1-16.2(chr6:97904220-99964434)x1	COQ3, FAXC +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 814851	GRCh37/hg19 6q16.1-16.2(chr6:98870687-100270433)x1	CCNC, COQ3 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 685975	GRCh37/hg19 6q16.1-16.2(chr6:99158119-100269911)x1	FAXC, FBXL4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 563210	GRCh37/hg19 6q16.2(chr6:99651077-100126178)x3	COQ3, FAXC +5 more	Copy number gain	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic

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