7377[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 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 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 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	AGPAT5, ANGPT2 +256 more	Copy number loss	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 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	LOC129999826, LOC129999827 +253 more	Copy number loss	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 150028	GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1	AGPAT5, ANGPT2 +259 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 152872	GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1	C8orf74, CLDN23 +124 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 144626	GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	MTMR9, NEIL2 +160 more	Copy number loss	See cases	GPathogenic
Select item 153058	GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3	C8orf74, CRE3 +67 more	Copy number gain	See cases	GPathogenic
Select item 155447	GRCh38/hg38 8p23.1(chr8:9009853-10496260)x3	ERI1, LINC03022 +33 more	Copy number gain	See cases	GLikely benign
Select item 58399	GRCh38/hg38 8p23.1(chr8:9239988-10057038)x3	LOC105379230, LOC121268919 +18 more	Copy number gain	See cases	GUncertain significance
Select item 152960	GRCh38/hg38 8p23.1(chr8:9456230-11013618)x1	C8orf74, CRE3 +34 more	Copy number loss	See cases	GPathogenic
Select item 60348	GRCh38/hg38 8p23.1(chr8:9924272-11573632)x1	BLK, C8orf74 +86 more	Copy number loss	See cases	GPathogenic
Select item 154901	GRCh38/hg38 8p23.1(chr8:9949070-10171972)x1	LOC129999845, LOC129999846 +1 more	Copy number loss	See cases	GUncertain significance
Select item 58400	GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	LOC129999854, LOC129999855 +122 more	Copy number gain	See cases	GPathogenic
Select item 545372	NC_000008.11:g.(?_9998540)_(10117911_?)del	LOC129999845, LOC129999846 +1 more	Deletion	Autism	GLikely pathogenic
Select item 3212216	NM_012331.5(MSRA):c.4C>G (p.Leu2Val)	MSRA (L2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262628	NM_012331.5(MSRA):c.16C>T (p.Arg6Trp)	MSRA (R6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336606	NM_012331.5(MSRA):c.23C>T (p.Ala8Val)	MSRA (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552985	NM_012331.5(MSRA):c.31C>T (p.Leu11Phe)	MSRA (L11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485665	NM_012331.5(MSRA):c.40C>T (p.Leu14Phe)	MSRA (L14F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301979	NM_012331.5(MSRA):c.66G>C (p.Arg22Ser)	MSRA (R22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340681	NM_012331.5(MSRA):c.118C>G (p.Arg40Gly)	MSRA (R40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600948	NM_012331.5(MSRA):c.127C>G (p.Gln43Glu)	MSRA (Q43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58402	GRCh38/hg38 8p23.1(chr8:10094463-11518412)x3	BLK, C8orf74 +72 more	Copy number gain	See cases	GUncertain significance
Select item 151991	GRCh38/hg38 8p23.1(chr8:10095976-10148214)x1	MSRA	Copy number loss	See cases	GLikely benign
Select item 152000	GRCh38/hg38 8p23.1(chr8:10202015-10254861)x1	LOC129999847, MSRA	Copy number loss	See cases	GLikely benign
Select item 3038398	NM_012331.5(MSRA):c.143-6_143-5del	MSRA	Deletion (intron variant)	MSRA-related disorder	GLikely benign
Select item 3296457	NM_012331.5(MSRA):c.151C>T (p.His51Tyr)	MSRA (H8Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340020	NM_012331.5(MSRA):c.151C>G (p.His51Asp)	MSRA (H51D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212188	NM_012331.5(MSRA):c.184C>T (p.Pro62Ser)	MSRA (P19S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212191	NM_012331.5(MSRA):c.203C>A (p.Ala68Asp)	MSRA (A68D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212195	NM_012331.5(MSRA):c.241A>C (p.Lys81Gln)	MSRA (K15Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286110	NM_012331.5(MSRA):c.275A>C (p.Gln92Pro)	MSRA (Q26P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2635008	NM_012331.5(MSRA):c.276A>G (p.Gln92=)	MSRA	Single nucleotide variant (synonymous variant +1 more)	MSRA-related disorder	GUncertain significance
Select item 735436	NM_012331.5(MSRA):c.280G>A (p.Gly94Ser)	MSRA (G28S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2316094	NM_012331.5(MSRA):c.299C>G (p.Thr100Ser)	MSRA (T100S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 545352	NC_000008.11:g.(?_10252025)_(10336231_?)del	LOC129999848, LOC129999849 +1 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 2364113	NM_012331.5(MSRA):c.359G>A (p.Arg120Gln)	MSRA (R80Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212204	NM_012331.5(MSRA):c.372G>C (p.Gln124His)	MSRA (Q58H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406308	NM_012331.5(MSRA):c.423C>G (p.His141Gln)	MSRA (H141Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212212	NM_012331.5(MSRA):c.424G>C (p.Asp142His)	MSRA (D102H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342069	NM_012331.5(MSRA):c.442C>T (p.Arg148Cys)	MSRA (R105C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212213	NM_012331.5(MSRA):c.496G>A (p.Ala166Thr)	MSRA (A166T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150794	GRCh38/hg38 8p23.1(chr8:10379998-10970694)x3	C8orf74, CRE3 +18 more	Copy number gain	See cases	GUncertain significance
Select item 145864	GRCh38/hg38 8p23.1(chr8:10407815-10542130)x1	LINC03022, LOC129999850 +3 more	Copy number loss	See cases	GLikely benign
Select item 3033555	NM_012331.5(MSRA):c.558C>T (p.His186=)	MSRA	Single nucleotide variant (synonymous variant)	MSRA-related disorder	GLikely benign
Select item 2233696	NM_012331.5(MSRA):c.575C>G (p.Thr192Ser)	MSRA (T152S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212220	NM_012331.5(MSRA):c.580G>A (p.Asp194Asn)	MSRA (D128N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053794	NM_012331.5(MSRA):c.589G>A (p.Glu197Lys)	MSRA (E131K +3 more)	Single nucleotide variant (missense variant)	MSRA-related disorder	GBenign
Select item 2297995	NM_012331.5(MSRA):c.638G>T (p.Ser213Ile)	MSRA (S170I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362478	NM_012331.5(MSRA):c.650A>G (p.Asn217Ser)	MSRA (N177S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621133	NM_012331.5(MSRA):c.661G>A (p.Gly221Ser)	MSRA (G181S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543167	NM_012331.5(MSRA):c.671G>A (p.Gly224Asp)	MSRA (G181D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044214	NM_012331.5(MSRA):c.676G>A (p.Gly226Ser)	MSRA (G160S +3 more)	Single nucleotide variant (missense variant)	MSRA-related disorder	GLikely benign

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