ClinVar for Gene (Select 2587) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2684881	GRCh37/hg19 18q23(chr18:74812802-75036956)x3	GALR1, MBP	Copy number gain	not provided	GUncertain significance
Select item 2684880	GRCh37/hg19 18q23(chr18:74259955-75082456)x3	GALR1, LINC00683 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2648819	NM_001480.4(GALR1):c.841T>G (p.Ser281Ala)	GALR1 (S281A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648818	NM_001480.4(GALR1):c.426C>T (p.Arg142=)	GALR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609860	NM_001480.4(GALR1):c.238G>T (p.Ala80Ser)	GALR1 (A80S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594396	NM_001480.4(GALR1):c.4G>C (p.Glu2Gln)	GALR1 (E2Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578813	GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1	ADNP2, ATP9B +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 2568908	NM_001480.4(GALR1):c.52C>T (p.Pro18Ser)	GALR1 (P18S)	Single nucleotide variant (missense variant)	GALR1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2554512	NM_001480.4(GALR1):c.161T>C (p.Val54Ala)	GALR1 (V54A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2489127	NM_001480.4(GALR1):c.16G>T (p.Gly6Trp)	GALR1 (G6W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456104	NM_001480.4(GALR1):c.203G>C (p.Ser68Thr)	GALR1 (S68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398504	NM_001480.4(GALR1):c.659A>G (p.Tyr220Cys)	GALR1 (Y220C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374997	NM_001480.4(GALR1):c.454G>A (p.Ala152Thr)	GALR1 (A152T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328577	NM_001480.4(GALR1):c.22C>T (p.Leu8Phe)	GALR1 (L8F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310246	NM_001480.4(GALR1):c.812A>C (p.Glu271Ala)	GALR1 (E271A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306294	NM_001480.4(GALR1):c.476T>A (p.Ile159Asn)	GALR1 (I159N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294117	NM_001480.4(GALR1):c.115G>A (p.Val39Met)	GALR1 (V39M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268641	NM_001480.4(GALR1):c.448C>G (p.Arg150Gly)	GALR1 (R150G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251633	NM_001480.4(GALR1):c.1044T>A (p.His348Gln)	GALR1 (H348Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242788	NM_001480.4(GALR1):c.8T>G (p.Leu3Arg)	GALR1 (L3R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231056	NM_001480.4(GALR1):c.31G>A (p.Gly11Ser)	GALR1 (G11S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229732	NM_001480.4(GALR1):c.16G>A (p.Gly6Arg)	GALR1 (G6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808842	GRCh37/hg19 18q23(chr18:74756818-75644995)x4	GALR1, MBP	Copy number gain	not provided	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	LINC01544, LINC01879 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 1684631	Single allele	LINC01922, LINC01927 +279 more	Deletion	Nystagmus +10 more	GPathogenic
Select item 1526645	GRCh37/hg19 18q23(chr18:74807008-75634258)	GALR1, MBP	Copy number gain	not specified	GUncertain significance
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 1341088	GRCh37/hg19 18q23(chr18:74754089-75625247)x3	GALR1, MBP	Copy number gain	not provided	GLikely benign
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	LINC-ROR, LINC00683 +80 more	Copy number loss	not provided	GPathogenic
Select item 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	LINC01415, LINC01879 +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 816493	GRCh37/hg19 18q23(chr18:73158604-78015180)x1	PARD6G, ADNP2 +15 more	Copy number loss	See cases	GPathogenic
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	PTGR3, DIPK1C +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	TXNL4A, CYB5A +53 more	Copy number loss	not provided	GPathogenic
Select item 816052	GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1	ZNF236, CYB5A +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 816045	GRCh37/hg19 18q23(chr18:74967867-75672989)x4	GALR1	Copy number gain	not provided	GLikely benign
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 686290	GRCh37/hg19 18q23(chr18:74755953-75641227)x4	GALR1, MBP	Copy number gain	not provided	GUncertain significance
Select item 686168	GRCh37/hg19 18q23(chr18:74755953-75630702)x4	GALR1, MBP	Copy number gain	not provided	GUncertain significance
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 624476	GRCh37/hg19 18q23(chr18:74285842-78010032)x1	RBFA, SALL3 +14 more	Copy number loss	not provided	GUncertain significance
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	ADNP2, ATP9B +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 564553	GRCh37/hg19 18q23(chr18:73214538-78014123)x1	GALR1, ADNP2 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 564550	GRCh37/hg19 18q23(chr18:74472294-78014123)x3	HSBP1L1, SLC66A2 +12 more	Copy number gain	not provided	GPathogenic
Select item 564500	GRCh37/hg19 18q23(chr18:74696807-74967869)x3	MBP, GALR1	Copy number gain	not provided	GLikely benign
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	ADNP2, ALPK2 +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	ACAA2, ADNP2 +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

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