8487[geneid] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 57775	GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1	CLEC14A, FBXO33 +62 more	Copy number loss	See cases	GPathogenic
Select item 57778	GRCh38/hg38 14q21.1(chr14:38817817-40894390)x1	FBXO33, GEMIN2 +28 more	Copy number loss	See cases	GPathogenic
Select item 155083	GRCh38/hg38 14q21.1(chr14:38828029-40664503)x1	FBXO33, GEMIN2 +28 more	Copy number loss	See cases	GUncertain significance
Select item 2338822	NM_003616.2(GEMIN2):c.11C>T (p.Ala4Val)	GEMIN2 (A4V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594630	NM_003616.3(GEMIN2):c.42G>T (p.Met14Ile)	GEMIN2 (M14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099334	NM_003616.3(GEMIN2):c.239C>A (p.Pro80His)	GEMIN2 (P80H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099335	NM_003616.3(GEMIN2):c.259C>G (p.Pro87Ala)	GEMIN2 (P87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099336	NM_003616.3(GEMIN2):c.262A>G (p.Thr88Ala)	GEMIN2 (T88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290718	NM_003616.3(GEMIN2):c.272G>C (p.Trp91Ser)	GEMIN2 (W91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281185	NM_003616.3(GEMIN2):c.464G>C (p.Ser155Thr)	GEMIN2 (S155T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099337	NM_003616.3(GEMIN2):c.547G>A (p.Val183Ile)	GEMIN2 (V168I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099338	NM_003616.3(GEMIN2):c.585C>G (p.Asp195Glu)	GEMIN2 (D195E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491196	NM_003616.3(GEMIN2):c.683G>A (p.Arg228Lys)	GEMIN2 (R213K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099339	NM_003616.3(GEMIN2):c.710T>A (p.Val237Glu)	GEMIN2 (V222E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099340	NM_003616.3(GEMIN2):c.791T>C (p.Leu264Ser)	GEMIN2 (L249S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2685484	GRCh37/hg19 14q21.1(chr14:39312661-40883686)x1	FBXO33, GEMIN2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684722	GRCh37/hg19 14q21.1(chr14:39316403-39743319)x3	GEMIN2, MIA2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1808082	GRCh37/hg19 14q13.3-21.1(chr14:37486532-39796638)x1	CLEC14A, FOXA1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527809	GRCh37/hg19 14q13.3-21.1(chr14:36862276-41597549)	CLEC14A, FBXO33 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527808	GRCh37/hg19 14q13.2-21.1(chr14:35850213-40138562)	BRMS1L, CLEC14A +20 more	Copy number loss	not specified	GPathogenic
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 980485	GRCh37/hg19 14q21.1(chr14:39533831-39597540)x1	SEC23A, GEMIN2	Copy number loss	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815645	GRCh37/hg19 14q21.1(chr14:39570335-39854035)x1	GEMIN2, TRAPPC6B +3 more	Copy number loss	not provided	GUncertain significance
Select item 815644	GRCh37/hg19 14q21.1(chr14:39444420-39903666)x1	TRAPPC6B, GEMIN2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 815639	GRCh37/hg19 14q13.3-21.1(chr14:36830396-42541277)x1	CLEC14A, FBXO33 +15 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 564135	GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1	BRMS1L, C14orf28 +29 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 45