27234[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 60328	GRCh38/hg38 8p23.3(chr8:202100-2017223)x1	LOC126860273, LOC126860274 +49 more	Copy number loss	See cases	GPathogenic
Select item 155691	GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GPathogenic
Select item 155587	GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1	ARHGEF10, CLN8 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 155445	GRCh38/hg38 8p23.3(chr8:208048-1576545)x3	DLGAP2, DLGAP2-AS1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 155440	GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 155311	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GUncertain significance
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 151750	GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 151132	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60330	GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60329	GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1	ARHGEF10, CLN8 +68 more	Copy number loss	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 155178	GRCh38/hg38 8p23.3(chr8:226452-1670285)x1	LOC105377777, DLGAP2 +32 more	Copy number loss	See cases	GUncertain significance
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 154744	GRCh38/hg38 8p23.3-23.2(chr8:226452-4316172)x1	ARHGEF10, CLN8 +69 more	Copy number loss	See cases	GUncertain significance
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 152253	GRCh38/hg38 8p23.3(chr8:226452-2017223)x1	ARHGEF10, CLN8 +48 more	Copy number loss	See cases	GPathogenic
Select item 150616	GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150497	GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1	LOC126860267, LOC126860268 +126 more	Copy number loss	See cases	GPathogenic
Select item 150139	GRCh38/hg38 8p23.3-23.2(chr8:226452-2767932)x1	ARHGEF10, CLN8 +59 more	Copy number loss	See cases	GUncertain significance
Select item 149175	GRCh38/hg38 8p23.3(chr8:226452-1073572)x1	DLGAP2, ERICH1 +20 more	Copy number loss	See cases	GUncertain significance
Select item 149174	GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3	AGPAT5, ANGPT2 +172 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 148183	GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GLikely pathogenic
Select item 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161036	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3	AGPAT5, ANGPT2 +166 more	Copy number gain	See cases	GPathogenic
Select item 160883	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	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 147663	GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 147569	GRCh38/hg38 8p23.3-23.2(chr8:241530-3331813)x1	ARHGEF10, CLN8 +64 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 146114	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3	DEFA6, DEFB1 +123 more	Copy number gain	See cases	GPathogenic
Select item 145578	GRCh38/hg38 8p23.3-23.2(chr8:241530-3212774)x1	ARHGEF10, CLN8 +64 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 60342	GRCh38/hg38 8p23.3-23.2(chr8:241530-3701826)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GPathogenic
Select item 60341	GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1	AGPAT5, ANGPT2 +124 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 57311	GRCh38/hg38 8p23.3(chr8:241530-1371695)x1	DLGAP2, ERICH1 +26 more	Copy number loss	See cases	GPathogenic
Select item 57012	GRCh38/hg38 8p23.3(chr8:241530-764384)x1	DLGAP2, ERICH1 +13 more	Copy number loss	See cases	GPathogenic
Select item 34125	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 32742	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	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 146751	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 146750	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3	LOC132089596, LOC132089598 +123 more	Copy number gain	See cases	GPathogenic
Select item 161035	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 32497	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 145967	GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1	AGPAT5, ANGPT2 +135 more	Copy number loss	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 153617	GRCh38/hg38 8p23.3(chr8:491797-1433054)x3	DLGAP2, ERICH1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 148202	GRCh38/hg38 8p23.3(chr8:543981-655843)x1	ERICH1, LOC126860266 +1 more	Copy number loss	See cases	GLikely benign
Select item 153589	GRCh38/hg38 8p23.3(chr8:555348-1166649)x3	DLGAP2, ERICH1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 150790	GRCh38/hg38 8p23.3(chr8:597183-820092)x3	DLGAP2, ERICH1 +4 more	Copy number gain	See cases	GLikely benign
Select item 153102	GRCh38/hg38 8p23.3(chr8:611175-1371695)x3	DLGAP2, ERICH1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 150618	GRCh38/hg38 8p23.3(chr8:655784-1736828)x1	DLGAP2, DLGAP2-AS1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 2247677	NM_207332.3(ERICH1):c.1253C>G (p.Pro418Arg)	ERICH1 (P418R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206503	NM_207332.3(ERICH1):c.1247C>T (p.Thr416Met)	ERICH1 (T416M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545789	NM_207332.3(ERICH1):c.1230G>A (p.Met410Ile)	ERICH1 (M410I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245115	NM_207332.3(ERICH1):c.1230G>T (p.Met410Ile)	ERICH1 (M410I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359191	NM_207332.3(ERICH1):c.1181C>T (p.Thr394Met)	ERICH1 (T394M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090193	NM_207332.3(ERICH1):c.1129G>A (p.Ala377Thr)	ERICH1 (A377T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300799	NM_207332.3(ERICH1):c.1124G>A (p.Arg375His)	ERICH1 (R375H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3090192	NM_207332.3(ERICH1):c.1103C>T (p.Ala368Val)	ERICH1 (A368V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548095	NM_207332.3(ERICH1):c.1078G>C (p.Ala360Pro)	ERICH1 (A360P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294153	NM_207332.3(ERICH1):c.1058A>G (p.Tyr353Cys)	ERICH1 (Y353C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232231	NM_207332.3(ERICH1):c.1004A>G (p.Glu335Gly)	ERICH1 (E335G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228755	NM_207332.3(ERICH1):c.952G>A (p.Gly318Arg)	ERICH1 (G318R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264396	NM_207332.3(ERICH1):c.941G>T (p.Gly314Val)	ERICH1 (G314V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276348	NM_207332.3(ERICH1):c.932A>G (p.Glu311Gly)	ERICH1 (E311G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278495	NM_207332.3(ERICH1):c.905G>T (p.Ser302Ile)	ERICH1 (S302I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213002	NM_207332.3(ERICH1):c.896C>T (p.Ala299Val)	ERICH1 (A299V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468761	NM_207332.3(ERICH1):c.890A>G (p.Asp297Gly)	ERICH1 (D297G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396951	NM_207332.3(ERICH1):c.878C>T (p.Thr293Ile)	ERICH1 (T293I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455605	NM_207332.3(ERICH1):c.820G>A (p.Gly274Ser)	ERICH1 (G274S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538118	NM_207332.3(ERICH1):c.805G>C (p.Ala269Pro)	ERICH1 (A269P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276349	NM_207332.3(ERICH1):c.752C>T (p.Ala251Val)	ERICH1 (A251V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2300026	NM_207332.3(ERICH1):c.748G>T (p.Gly250Cys)	ERICH1 (G250C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090202	NM_207332.3(ERICH1):c.730C>T (p.Arg244Trp)	ERICH1 (R244W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526534	NM_207332.3(ERICH1):c.723C>G (p.Asp241Glu)	ERICH1 (D241E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229572	NM_207332.3(ERICH1):c.692A>C (p.Glu231Ala)	ERICH1 (E231A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482270	NM_207332.3(ERICH1):c.689G>C (p.Arg230Thr)	ERICH1 (R230T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316573	NM_207332.3(ERICH1):c.629G>A (p.Gly210Asp)	ERICH1 (G210D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608481	NM_207332.3(ERICH1):c.607G>A (p.Gly203Arg)	ERICH1 (G203R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090200	NM_207332.3(ERICH1):c.580G>A (p.Asp194Asn)	ERICH1 (D194N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329187	NM_207332.3(ERICH1):c.567G>T (p.Met189Ile)	ERICH1 (M189I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520565	NM_207332.3(ERICH1):c.565A>T (p.Met189Leu)	ERICH1 (M189L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090199	NM_207332.3(ERICH1):c.532G>A (p.Gly178Ser)	ERICH1 (G178S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090198	NM_207332.3(ERICH1):c.527C>A (p.Ala176Glu)	ERICH1 (A176E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090197	NM_207332.3(ERICH1):c.488G>A (p.Arg163Lys)	ERICH1 (R163K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090196	NM_207332.3(ERICH1):c.458A>G (p.Asp153Gly)	ERICH1 (D153G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385773	NM_207332.3(ERICH1):c.392T>C (p.Ile131Thr)	ERICH1 (I131T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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