21460[HGNC] - ClinVar

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Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
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 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 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 154357	GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3	LOC108281111, LOC110120901 +19 more	Copy number gain	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 151241	GRCh38/hg38 14q13.3(chr14:36533448-37341419)x1	LOC108281111, LOC110120902 +10 more	Copy number loss	See cases	GPathogenic
Select item 154647	GRCh38/hg38 14q13.3(chr14:36785334-37228540)x1	LOC124995371, LOC126861919 +5 more	Copy number loss	See cases	GUncertain significance
Select item 57776	GRCh38/hg38 14q13.3-21.1(chr14:37121338-37866986)x1	FOXA1, LOC110120902 +10 more	Copy number loss	See cases	GPathogenic
Select item 154789	GRCh38/hg38 14q13.3-21.1(chr14:37138631-37533761)x3	LOC110120902, LOC111500315 +4 more	Copy number gain	See cases	GLikely benign
Select item 2514670	NM_001388067.1(MIPOL1):c.23T>A (p.Ile8Lys)	MIPOL1 (I8K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220002	NM_001388067.1(MIPOL1):c.26C>T (p.Thr9Ile)	MIPOL1 (T9I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471758	NM_001388067.1(MIPOL1):c.47A>G (p.Glu16Gly)	MIPOL1 (E16G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558017	NM_001388067.1(MIPOL1):c.92C>T (p.Thr31Ile)	MIPOL1 (T31I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126696	NM_001388067.1(MIPOL1):c.202A>T (p.Ser68Cys)	MIPOL1 (S68C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531311	NM_001388067.1(MIPOL1):c.253G>T (p.Val85Phe)	MIPOL1 (V85F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294937	NM_001388067.1(MIPOL1):c.276T>A (p.Asp92Glu)	MIPOL1 (D61E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368651	NM_001388067.1(MIPOL1):c.281A>G (p.His94Arg)	MIPOL1 (H63R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294932	NM_001388067.1(MIPOL1):c.298C>G (p.Pro100Ala)	MIPOL1 (P100A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041905	NM_001388067.1(MIPOL1):c.330G>A (p.Glu110=)	MIPOL1	Single nucleotide variant (synonymous variant)	MIPOL1-related disorder	GLikely benign
Select item 2386078	NM_001388067.1(MIPOL1):c.373A>G (p.Thr125Ala)	MIPOL1 (T125A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126697	NM_001388067.1(MIPOL1):c.412G>A (p.Asp138Asn)	MIPOL1 (D107N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294936	NM_001388067.1(MIPOL1):c.472A>G (p.Lys158Glu)	MIPOL1 (K158E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050985	NM_001388067.1(MIPOL1):c.477T>C (p.Ile159=)	MIPOL1	Single nucleotide variant (synonymous variant)	MIPOL1-related disorder	GLikely benign
Select item 3126698	NM_001388067.1(MIPOL1):c.620A>G (p.Lys207Arg)	MIPOL1 (K176R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206148	NM_001388067.1(MIPOL1):c.648A>C (p.Glu216Asp)	MIPOL1 (E216D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266633	NM_001388067.1(MIPOL1):c.662T>C (p.Leu221Ser)	MIPOL1 (L190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298062	NM_001388067.1(MIPOL1):c.692C>T (p.Ala231Val)	MIPOL1 (A200V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602266	NM_001388067.1(MIPOL1):c.717G>T (p.Lys239Asn)	MIPOL1 (K208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464965	NM_001388067.1(MIPOL1):c.809G>A (p.Arg270Gln)	MIPOL1 (R239Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308653	NM_001388067.1(MIPOL1):c.824C>T (p.Ser275Phe)	MIPOL1 (S275F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58180	GRCh38/hg38 14q13.3-21.1(chr14:37367874-37465541)x1	LOC126861921, MIPOL1	Copy number loss	See cases	GUncertain significance
Select item 3294935	NM_001388067.1(MIPOL1):c.859G>C (p.Val287Leu)	MIPOL1 (V256L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2334568	NM_001388067.1(MIPOL1):c.875A>G (p.Gln292Arg)	MIPOL1 (Q261R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294933	NM_001388067.1(MIPOL1):c.893T>C (p.Met298Thr)	MIPOL1 (M298T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3032434	NM_001388067.1(MIPOL1):c.936+8T>C	MIPOL1	Single nucleotide variant (intron variant)	MIPOL1-related disorder	GLikely benign
Select item 3126699	NM_001388067.1(MIPOL1):c.949T>C (p.Ser317Pro)	MIPOL1 (S250P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215888	NM_001388067.1(MIPOL1):c.952A>G (p.Met318Val)	MIPOL1 (M251V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2292506	NM_001388067.1(MIPOL1):c.1075T>C (p.Phe359Leu)	MIPOL1 (F323L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126695	NM_001388067.1(MIPOL1):c.1082A>C (p.Tyr361Ser)	MIPOL1 (Y330S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524465	NM_001388067.1(MIPOL1):c.1105G>A (p.Ala369Thr)	MIPOL1 (A369T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289688	NM_001388067.1(MIPOL1):c.1165A>G (p.Thr389Ala)	MIPOL1 (T358A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294938	NM_001388067.1(MIPOL1):c.1193G>A (p.Arg398Gln)	MIPOL1 (R331Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644183	NM_001388067.1(MIPOL1):c.1262+21051A>G	MIPOL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 149764	GRCh38/hg38 14q21.1(chr14:37533702-38648187)x1	CLEC14A, FOXA1 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 3063320	GRCh37/hg19 14q13.3-21.1(chr14:37558741-37901749)x1	MIPOL1, SLC25A21	Copy number loss	not specified	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 1807863	GRCh37/hg19 14q13.3(chr14:37689354-37751399)x1	MIPOL1	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 980484	GRCh37/hg19 14q21.1(chr14:37941046-38026869)x1	MIPOL1	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 815642	GRCh37/hg19 14q13.3-21.1(chr14:37575032-38026482)x3	MIPOL1, SLC25A21	Copy number gain	not provided	GUncertain significance
Select item 815641	GRCh37/hg19 14q13.3-21.1(chr14:37199295-37871646)x3	MIPOL1, SLC25A21	Copy number gain	not provided	GUncertain significance
Select item 815640	GRCh37/hg19 14q13.3(chr14:37142553-37674856)x1	MIPOL1, PAX9 +1 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 687263	GRCh37/hg19 14q21.1(chr14:37964229-37996852)x1	MIPOL1	Copy number loss	not provided	GUncertain significance
Select item 686521	GRCh37/hg19 14q13.3-21.1(chr14:37204095-37936218)x1	MIPOL1, SLC25A21	Copy number loss	not provided	GUncertain significance
Select item 685134	GRCh37/hg19 14q13.3(chr14:37634838-37707287)x1	MIPOL1, SLC25A21	Copy number loss	not provided	GUncertain significance
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 564111	GRCh37/hg19 14q13.3-21.1(chr14:37658136-37972188)x1	MIPOL1	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442025	GRCh37/hg19 14q21.1(chr14:38008667-38214720)x1	FOXA1, MIPOL1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 441721	GRCh37/hg19 14q13.3-21.1(chr14:37455098-37950971)x1	MIPOL1, SLC25A21	Copy number loss	See cases	GLikely benign
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 221496	GRCh37/hg19 14q13.3-21.1(chr14:37145530-38064142)x4	FOXA1, MIPOL1 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 8972	NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del	MBIP, MIPOL1 +6 more	Deletion	Benign hereditary chorea	GPathogenic

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Items: 82