ClinVar for Gene (Select 284274) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3392444	GRCh37/hg19 18q22.3-23(chr18:72381941-74284915)x1	PTGR3, SMIM21 +3 more	Copy number loss	not provided	GUncertain significance
Select item 3391862	GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3	ACAA2, ADNP2 +195 more	Copy number gain	not provided	GPathogenic
Select item 3391825	GRCh37/hg19 18q21.31-23(chr18:56102873-74360560)x3	C18orf63, CBLN2 +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 3320978	NM_001037331.3(SMIM21):c.205A>T (p.Ser69Cys)	SMIM21 (S69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148889	GRCh37/hg19 18q22.1-23(chr18:65549783-78013728)x3	ADNP2, ATP9B +34 more	Copy number gain	not provided	GPathogenic
Select item 3063551	GRCh37/hg19 18q22.3-23(chr18:72453821-78014123)x1	ADNP2, ATP9B +19 more	Copy number loss	not specified	GPathogenic
Select item 3063550	GRCh37/hg19 18q22.1-23(chr18:63427506-78014123)x1	ADNP2, ATP9B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063547	GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1	ADNP2, ATP9B +28 more	Copy number loss	not specified	GPathogenic
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 2685626	GRCh37/hg19 18q22.3-23(chr18:71401603-78014123)x1	ADNP2, ATP9B +26 more	Copy number loss	not provided	GPathogenic
Select item 2685624	GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	ADNP2, ATP9B +51 more	Copy number loss	not provided	GPathogenic
Select item 2578813	GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1	ATP9B, NFATC1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2574698	GRCh37/hg19 18q22.1-23(chr18:66057406-78014123)	ADNP2, ATP9B +34 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 2571020	GRCh37/hg19 18q22.3-23(chr18:71740696-78005231)x1	ADNP2, ATP9B +26 more	Copy number loss	not provided	GPathogenic
Select item 2551554	NM_001037331.3(SMIM21):c.163T>A (p.Leu55Met)	SMIM21 (L55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500799	GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1	CYB5A, PARD6G +33 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 2472988	NM_001037331.3(SMIM21):c.168G>T (p.Leu56Phe)	SMIM21 (L56F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403300	NM_001037331.3(SMIM21):c.32G>A (p.Arg11Gln)	SMIM21 (R11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289516	NM_001037331.3(SMIM21):c.52G>A (p.Gly18Arg)	SMIM21 (G18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246915	NM_001037331.3(SMIM21):c.229G>T (p.Asp77Tyr)	SMIM21 (D77Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207604	NM_001037331.3(SMIM21):c.249C>A (p.Ser83Arg)	SMIM21 (S83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808639	GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	ADNP2, ALPK2 +80 more	Copy number loss	not provided	GPathogenic
Select item 1807794	GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1	ADNP2, ATP9B +33 more	Copy number loss	not provided	GPathogenic
Select item 1807707	GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1	ADNP2, ATP9B +41 more	Copy number loss	not provided	GPathogenic
Select item 1712252	GRCh37/hg19 18q22.3-23(chr18:72669936-77889946)x1	HSBP1L1, ADNP2 +18 more	Copy number loss	See cases	GPathogenic
Select item 1703624	GRCh37/hg19 18q21.33-23(chr18:61289055-78014123)	ADNP2, ATP9B +45 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 1684631	Single allele	LINC01029, LINC01541 +279 more	Deletion	Gray matter heterotopia +10 more	GPathogenic
Select item 1526643	GRCh37/hg19 18q22.3-23(chr18:70333866-78014123)	LINC01879, MBP +27 more	Copy number loss	not specified	GPathogenic
Select item 1526633	GRCh37/hg19 18q22.1-23(chr18:64340599-77273893)	PTGR3, RTTN +27 more	Copy number loss	not specified	GPathogenic
Select item 1526630	GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)	FBXO15, SLC66A2 +57 more	Copy number loss	not specified	GPathogenic
Select item 1526628	GRCh37/hg19 18q21.32-23(chr18:58305972-78014123)	PHLPP1, PIGN +58 more	Copy number loss	not specified	GPathogenic
Select item 1526627	GRCh37/hg19 18q21.2-23(chr18:53309113-78014123)	SERPINB3, ZCCHC2 +81 more	Copy number loss	not specified	GPathogenic
Select item 1526624	GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526623	GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526622	GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526617	GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	MAPK4, MBD1 +101 more	Copy number loss	not specified	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340539	GRCh37/hg19 18q22.3-23(chr18:72981898-73372110)x3	SMIM21, TSHZ1	Copy number gain	not provided	GUncertain significance
Select item 1340168	GRCh37/hg19 18q22.2-23(chr18:68585785-74978794)x1	C18orf63, CBLN2 +17 more	Copy number loss	not provided	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 1176065	GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	CBLN2, HMSD +80 more	Copy number loss	not provided	GPathogenic
Select item 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	PARD6G, PHLPP1 +85 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980187	GRCh37/hg19 18q22.3-23(chr18:70835154-78014123)x1	PARD6G, PTGR3 +26 more	Copy number loss	not provided	GPathogenic
Select item 980184	GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3	PTGR3, SOCS6 +36 more	Copy number gain	not provided	GLikely pathogenic
Select item 816057	GRCh37/hg19 18q22.3-23(chr18:70383594-78014123)x1	FBXO15, LINC01879 +27 more	Copy number loss	not provided	GPathogenic
Select item 816056	GRCh37/hg19 18q22.3-23(chr18:70212733-78014123)x1	HSBP1L1, TXNL4A +27 more	Copy number loss	not provided	GPathogenic
Select item 816055	GRCh37/hg19 18q22.2-23(chr18:67551299-78014123)x1	CD226, CNDP1 +31 more	Copy number loss	not provided	GPathogenic
Select item 816054	GRCh37/hg19 18q22.1-23(chr18:63247046-78014123)x1	MBP, NETO1 +37 more	Copy number loss	not provided	GPathogenic
Select item 816053	GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1	BCL2, C18orf63 +53 more	Copy number loss	not provided	GPathogenic
Select item 816052	GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1	ADNP2, CNDP1 +66 more	Copy number loss	not provided	GPathogenic
Select item 816051	GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1	PHLPP1, MC4R +72 more	Copy number loss	not provided	GPathogenic
Select item 816050	GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	BOD1L2, SALL3 +90 more	Copy number loss	not provided	GPathogenic
Select item 816044	GRCh37/hg19 18q22.1-23(chr18:61994711-74293556)x1	ZNF516, DIPK1C +21 more	Copy number loss	not provided	GPathogenic
Select item 816043	GRCh37/hg19 18q22.1-23(chr18:66620343-74065460)x1	SMIM21, PTGR3 +16 more	Copy number loss	not provided	GPathogenic
Select item 816042	GRCh37/hg19 18q22.3-23(chr18:72401103-73284023)x3	ZNF407, SMIM21 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816041	GRCh37/hg19 18q22.3-23(chr18:72933453-73215883)x3	SMIM21, TSHZ1	Copy number gain	not provided	GUncertain significance
Select item 686550	GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1	ADNP2, ATP9B +28 more	Copy number loss	not provided	GPathogenic
Select item 686547	GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1	ADNP2, ATP9B +28 more	Copy number loss	not provided	GPathogenic
Select item 635891	Single allele	ADNP2, ATP9B +37 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626290	Single allele	ADNP2, ATP9B +59 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 564571	GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	ACAA2, ADNP2 +107 more	Copy number loss	not provided	GPathogenic
Select item 564570	GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1	PMAIP1, GALR1 +72 more	Copy number loss	not provided	GPathogenic
Select item 564569	GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1	DIPK1C, SLC66A2 +64 more	Copy number loss	not provided	GPathogenic
Select item 564566	GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1	ZNF236, TIMM21 +52 more	Copy number loss	not provided	GPathogenic
Select item 564561	GRCh37/hg19 18q22.1-23(chr18:64610595-78014123)x1	ADNP2, ATP9B +35 more	Copy number loss	not provided	GPathogenic
Select item 564560	GRCh37/hg19 18q22.1-23(chr18:64764747-78014123)x1	CNDP1, CNDP2 +35 more	Copy number loss	not provided	GPathogenic
Select item 564558	GRCh37/hg19 18q22.2-23(chr18:67082104-78014123)x1	ZNF516, FBXO15 +32 more	Copy number loss	not provided	GPathogenic
Select item 564556	GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1	ATP9B, CBLN2 +28 more	Copy number loss	not provided	GPathogenic
Select item 559585	Single allele	SLC66A2, SALL3 +35 more	Deletion	Intestinal malrotation	GPathogenic
Select item 446333	GRCh37/hg19 18q22.1-23(chr18:61802304-78015180)x1	CD226, CDH19 +37 more	Copy number loss	See cases	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443765	GRCh37/hg19 18q22.2-23(chr18:67431406-78014123)x1	ADNP2, ATP9B +32 more	Copy number loss	See cases	GPathogenic
Select item 443664	GRCh37/hg19 18q22.3-23(chr18:70340543-78014123)x1	ADNP2, ATP9B +27 more	Copy number loss	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443563	GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 443274	GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	LINC01879, LMAN1 +101 more	Copy number gain	See cases	GPathogenic
Select item 443197	GRCh37/hg19 18q22.1-23(chr18:66625843-78014123)x1	ADNP2, ATP9B +33 more	Copy number loss	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	TMX3, TNFRSF11A +128 more	Copy number gain	See cases	GPathogenic
Select item 443044	GRCh37/hg19 18q22.1-23(chr18:61673145-78014123)x1	ADNP2, ATP9B +37 more	Copy number loss	See cases	GPathogenic
Select item 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 more	Copy number gain	See cases	GPathogenic
Select item 442460	GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1	ADNP2, ALPK2 +79 more	Copy number loss	See cases	GPathogenic
Select item 442435	GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1	ADNP2, ATP9B +56 more	Copy number loss	See cases	GPathogenic
Select item 442385	GRCh37/hg19 18q22.1-23(chr18:64524888-78014123)x1	ADNP2, ATP9B +35 more	Copy number loss	See cases	GPathogenic
Select item 442227	GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1	ADNP2, ATP9B +55 more	Copy number loss	See cases	GPathogenic
Select item 441859	GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1	ADNP2, ATP9B +58 more	Copy number loss	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 441661	GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	WDR7, ZCCHC2 +109 more	Copy number loss	See cases	GPathogenic
Select item 441581	GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1	ADNP2, ATP9B +33 more	Copy number loss	See cases	GPathogenic
Select item 395519	GRCh37/hg19 18q22.1-23(chr18:65648458-78005185)x1	ADNP2, ATP9B +34 more	Copy number loss	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 369836	GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1	ADNP2, ATP9B +57 more	Copy number loss	not provided	GLikely pathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253575	GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3	SOCS6, SERPINB10 +58 more	Copy number gain	See cases	GPathogenic
Select item 253427	GRCh37/hg19 18q22.3-23(chr18:71078132-78005236)x3	RBFA, ADNP2 +26 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic

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