9228[Gene ID] - 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 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 3039242	NM_001346810.2(DLGAP2):c.7G>T (p.Ala3Ser)	DLGAP2 (A3S)	Single nucleotide variant (missense variant +1 more)	DLGAP2-related disorder	GBenign
Select item 148126	GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3	AGPAT5, ANGPT2 +161 more	Copy number gain	See cases	GBenign
Select item 150638	GRCh38/hg38 8p23.3(chr8:820001-1406350)x3	LOC126860270, LOC126860271 +12 more	Copy number gain	See cases	GLikely benign
Select item 3044500	NM_001346810.2(DLGAP2):c.34C>T (p.Leu12=)	DLGAP2	Single nucleotide variant (synonymous variant +1 more)	DLGAP2-related disorder	GLikely benign
Select item 153256	GRCh38/hg38 8p23.3(chr8:972534-1410990)x1	DLGAP2, LOC123987604 +10 more	Copy number loss	See cases	GUncertain significance
Select item 155052	GRCh38/hg38 8p23.3(chr8:989376-1681152)x3	DLGAP2, DLGAP2-AS1 +14 more	Copy number gain	See cases	GLikely benign
Select item 152350	GRCh38/hg38 8p23.3(chr8:1019342-1427444)x1	DLGAP2, LOC123987604 +7 more	Copy number loss	See cases	GUncertain significance
Select item 149432	GRCh38/hg38 8p23.3(chr8:1027114-1420499)x1	DLGAP2, LOC123987604 +7 more	Copy number loss	See cases	GLikely benign
Select item 152248	GRCh38/hg38 8p23.3(chr8:1027218-1680120)x3	DLGAP2, DLGAP2-AS1 +11 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 545353	NC_000008.11:g.(?_1050516)_(1327901_?)del	DLGAP2, LOC123987604 +6 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 2658290	NM_001346810.2(DLGAP2):c.87G>A (p.Thr29=)	DLGAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3044626	NM_001346810.2(DLGAP2):c.107-10G>C	DLGAP2	Single nucleotide variant (intron variant)	DLGAP2-related disorder	GLikely benign
Select item 2658291	NM_001346810.2(DLGAP2):c.174C>T (p.Asp58=)	DLGAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3353397	NM_001346810.2(DLGAP2):c.254C>G (p.Ser85Cys)	DLGAP2 (S85C)	Single nucleotide variant (missense variant)	DLGAP2-related disorder	GUncertain significance
Select item 3272272	NM_001346810.2(DLGAP2):c.271C>T (p.Pro91Ser)	DLGAP2 (P91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082829	NM_001346810.2(DLGAP2):c.346G>A (p.Ala116Thr)	DLGAP2 (A116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380888	NM_001346810.2(DLGAP2):c.407C>T (p.Ser136Leu)	DLGAP2 (S136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332115	NM_001346810.2(DLGAP2):c.421G>T (p.Val141Leu)	DLGAP2 (V141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557176	NM_001346810.2(DLGAP2):c.432G>T (p.Glu144Asp)	DLGAP2 (E144D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082841	NM_001346810.2(DLGAP2):c.461A>C (p.Asp154Ala)	DLGAP2 (D154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082848	NM_001346810.2(DLGAP2):c.509A>G (p.Tyr170Cys)	DLGAP2 (Y170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684978	NM_001346810.2(DLGAP2):c.511G>A (p.Asp171Asn)	DLGAP2 (D171N)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2246580	NM_001346810.2(DLGAP2):c.520G>A (p.Asp174Asn)	DLGAP2 (D174N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082849	NM_001346810.2(DLGAP2):c.521A>G (p.Asp174Gly)	DLGAP2 (D174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523169	NM_001346810.2(DLGAP2):c.526T>C (p.Cys176Arg)	DLGAP2 (C176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509827	NM_001346810.2(DLGAP2):c.527G>T (p.Cys176Phe)	DLGAP2 (C176F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341057	NM_001346810.2(DLGAP2):c.539A>C (p.His180Pro)	DLGAP2 (H180P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046504	NM_001346810.2(DLGAP2):c.574C>G (p.Leu192Val)	DLGAP2 (L192V)	Single nucleotide variant (missense variant)	DLGAP2-related disorder	GUncertain significance
Select item 3272281	NM_001346810.2(DLGAP2):c.583C>A (p.Gln195Lys)	DLGAP2 (Q195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050378	NM_001346810.2(DLGAP2):c.641G>A (p.Arg214Lys)	DLGAP2 (R214K)	Single nucleotide variant (missense variant)	DLGAP2-related disorder	GBenign
Select item 2619234	NM_001346810.2(DLGAP2):c.734C>T (p.Ser245Leu)	DLGAP2 (S245L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315163	NM_001346810.2(DLGAP2):c.736C>G (p.Leu246Val)	DLGAP2 (L246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686633	NM_001346810.2(DLGAP2):c.779A>C (p.Asp260Ala)	DLGAP2 (D260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232495	NM_001346810.2(DLGAP2):c.805G>A (p.Ala269Thr)	DLGAP2 (A269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034880	NM_001346810.2(DLGAP2):c.819G>A (p.Lys273=)	DLGAP2	Single nucleotide variant (synonymous variant)	DLGAP2-related disorder	GLikely benign
Select item 2297436	NM_001346810.2(DLGAP2):c.922A>C (p.Thr308Pro)	DLGAP2 (T308P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612738	NM_001346810.2(DLGAP2):c.926A>G (p.Tyr309Cys)	DLGAP2 (Y309C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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