2527[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
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 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 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 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 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 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 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 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	DEFB103B, DEFB104A +256 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	LOC129999906, LOC129999907 +258 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, C8orf74 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	LOC129999824, LOC129999825 +255 more	Copy number gain	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +232 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	BLK, C8orf74 +199 more	Copy number gain	See cases	GLikely pathogenic
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	FAM85B, FAM86B1 +205 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, C8orf74 +196 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	BLK, C8orf74 +195 more	Copy number loss	See cases	GPathogenic
Select item 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, C8orf74 +193 more	Copy number loss	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, C8orf74 +189 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	BLK, C8orf74 +189 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	PPP1R3B, PPP1R3B-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	BLK, C8orf74 +188 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, C8orf74 +187 more	Copy number gain	See cases	GPathogenic
Select item 58400	GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	LOC129999854, LOC129999855 +122 more	Copy number gain	See cases	GPathogenic
Select item 152255	GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	BLK, C8orf74 +116 more	Copy number gain	See cases	GUncertain significance
Select item 57156	GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3	LOC129999890, LOC129999891 +88 more	Copy number gain	See cases	GUncertain significance
Select item 152873	GRCh38/hg38 8p23.1(chr8:11440972-11984333)x3	BLK, CTSB +67 more	Copy number gain	See cases	GPathogenic
Select item 151753	GRCh38/hg38 8p23.1(chr8:11794524-12041471)x1	CTSB, DEFB134 +21 more	Copy number loss	See cases	GUncertain significance
Select item 599353	NC_000008.10:g.11667760_11787743del119984	CTSB, FDFT1 +10 more	Deletion	Squalene synthase deficiency	GLikely pathogenic
Select item 1911979	NM_001908.5(CTSB):c.1015A>G (p.Ile339Val)	CTSB (I339V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728614	NM_001908.5(CTSB):c.1001A>C (p.Gln334Pro)	CTSB (Q334P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2303596	NM_001908.5(CTSB):c.1000C>G (p.Gln334Glu)	CTSB (Q334E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1444071	NM_001908.5(CTSB):c.997G>A (p.Asp333Asn)	CTSB (D333N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417576	NM_001908.5(CTSB):c.997G>T (p.Asp333Tyr)	CTSB (D209Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558874	NM_001908.5(CTSB):c.996C>T (p.Thr332=)	CTSB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462394	NM_001908.5(CTSB):c.994A>G (p.Thr332Ala)	CTSB (T208A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387841	NM_001908.5(CTSB):c.992G>C (p.Arg331Pro)	CTSB (R207P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992227	NM_001908.5(CTSB):c.991C>T (p.Arg331Cys)	CTSB (R207C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251251	NM_001908.5(CTSB):c.967T>G (p.Ser323Ala)	CTSB (S199A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1669854	NM_001908.5(CTSB):c.963C>T (p.Ile321=)	CTSB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1932079	NM_001908.5(CTSB):c.954C>G (p.His318Gln)	CTSB (H318Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1559085	NM_001908.5(CTSB):c.949G>A (p.Asp317Asn)	CTSB (D193N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1566615	NM_001908.5(CTSB):c.923-9T>A	CTSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572692	NM_001908.5(CTSB):c.922+16C>G	CTSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625062	NM_001908.5(CTSB):c.922+14C>G	CTSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1611533	NM_001908.5(CTSB):c.922+13C>T	CTSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1650265	NM_001908.5(CTSB):c.922+12C>T	CTSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2526754	NM_001908.5(CTSB):c.905C>G (p.Thr302Ser)	CTSB (T302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2190371	NM_001908.5(CTSB):c.865A>C (p.Asn289His)	CTSB (N289H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710600	NM_001908.5(CTSB):c.849G>A (p.Leu283=)	CTSB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3270204	NM_001908.5(CTSB):c.846C>G (p.Ile282Met)	CTSB (I158M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2145615	NM_001908.5(CTSB):c.841C>T (p.Arg281Cys)	CTSB (R157C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1582993	NM_001908.5(CTSB):c.820A>T (p.Met274Leu)	CTSB (M150L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1470863	NM_001908.5(CTSB):c.814G>A (p.Gly272Arg)	CTSB (G148R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666659	NM_001908.5(CTSB):c.812C>G (p.Thr271Ser)	CTSB (T147S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1623285	NM_001908.5(CTSB):c.794-16G>A	CTSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1391849	NM_001908.5(CTSB):c.781C>T (p.Leu261Phe)	CTSB (L137F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1641457	NM_001908.5(CTSB):c.777C>T (p.Phe259=)	CTSB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662079	NM_001908.5(CTSB):c.771G>A (p.Ser257=)	CTSB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078750	NM_001908.5(CTSB):c.770C>T (p.Ser257Leu)	CTSB (S257L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1521513	NM_001908.5(CTSB):c.770C>G (p.Ser257Trp)	CTSB (S133W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1664508	NM_001908.5(CTSB):c.768T>C (p.Tyr256=)	CTSB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2489426	NM_001908.5(CTSB):c.767A>G (p.Tyr256Cys)	CTSB (Y132C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300152	NM_001908.5(CTSB):c.761C>A (p.Ser254Tyr)	CTSB (S254Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1541052	NM_001908.5(CTSB):c.761C>G (p.Ser254Cys)	CTSB (S130C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1368976	NM_001908.5(CTSB):c.745G>T (p.Val249Leu)	CTSB (V249L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3078749	NM_001908.5(CTSB):c.739G>A (p.Gly247Ser)	CTSB (G123S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779342	NM_001908.5(CTSB):c.737A>C (p.Asn246Thr)	CTSB (N122T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3078748	NM_001908.5(CTSB):c.736A>C (p.Asn246His)	CTSB (N122H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1532631	NM_001908.5(CTSB):c.735A>C (p.Lys245Asn)	CTSB (K121N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1357658	NM_001908.5(CTSB):c.729C>G (p.Ile243Met)	CTSB (I119M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674087	NM_001908.5(CTSB):c.723C>T (p.Ala241=)	CTSB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496764	NM_001908.5(CTSB):c.722C>T (p.Ala241Val)	CTSB (A117V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3078747	NM_001908.5(CTSB):c.720G>A (p.Met240Ile)	CTSB (M116I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1608563	NM_001908.5(CTSB):c.709A>G (p.Lys237Glu)	CTSB (K113E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1167517	NM_001908.5(CTSB):c.704G>A (p.Ser235Asn)	CTSB (S111N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1497483	NM_001908.5(CTSB):c.701A>C (p.Asn234Thr)	CTSB (N234T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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