57156[geneid] - ClinVar

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Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 3179600	NM_020431.4(TMEM63C):c.7G>C (p.Ala3Pro)	TMEM63C (A3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547570	NM_020431.4(TMEM63C):c.16G>C (p.Asp6His)	TMEM63C (D6H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179601	NM_020431.4(TMEM63C):c.85G>A (p.Val29Ile)	TMEM63C (V29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179593	NM_020431.4(TMEM63C):c.139G>A (p.Ala47Thr)	TMEM63C (A47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327159	NM_020431.4(TMEM63C):c.202C>T (p.Arg68Cys)	TMEM63C (R68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621788	NM_020431.4(TMEM63C):c.203G>T (p.Arg68Leu)	TMEM63C (R68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179597	NM_020431.4(TMEM63C):c.229A>G (p.Ser77Gly)	TMEM63C (S77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257820	NM_020431.4(TMEM63C):c.286T>C (p.Ser96Pro)	TMEM63C (S96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 1686353	NM_020431.4(TMEM63C):c.343A>G (p.Thr115Ala)	TMEM63C (T115A)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2596931	NM_020431.4(TMEM63C):c.385G>A (p.Ala129Thr)	TMEM63C (A129T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511964	NM_020431.4(TMEM63C):c.389G>A (p.Arg130His)	TMEM63C (R130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179598	NM_020431.4(TMEM63C):c.397A>G (p.Ile133Val)	TMEM63C (I133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411712	NM_020431.4(TMEM63C):c.515G>A (p.Arg172Gln)	TMEM63C (R172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343048	NM_020431.4(TMEM63C):c.523A>G (p.Ile175Val)	TMEM63C (I175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698438	NM_020431.4(TMEM63C):c.585C>G (p.Tyr195Ter)	TMEM63C (Y195*)	Single nucleotide variant (nonsense)	Spastic paraplegia 87, autosomal recessive	GPathogenic
Select item 3327156	NM_020431.4(TMEM63C):c.644G>A (p.Ser215Asn)	TMEM63C (S215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179599	NM_020431.4(TMEM63C):c.655A>T (p.Thr219Ser)	TMEM63C (T219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644425	NM_020431.4(TMEM63C):c.735T>C (p.Tyr245=)	TMEM63C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2403088	NM_020431.4(TMEM63C):c.752C>G (p.Thr251Arg)	TMEM63C (T251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212690	NM_020431.4(TMEM63C):c.811C>T (p.His271Tyr)	TMEM63C (H271Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341915	NM_020431.4(TMEM63C):c.893G>A (p.Arg298His)	TMEM63C (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327161	NM_020431.4(TMEM63C):c.994C>T (p.Leu332Phe)	TMEM63C (L332F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179591	NM_020431.4(TMEM63C):c.1132G>A (p.Val378Ile)	TMEM63C (V378I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245837	NM_020431.4(TMEM63C):c.1204C>T (p.Arg402Cys)	TMEM63C (R402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390030	NM_020431.4(TMEM63C):c.1208G>A (p.Arg403His)	TMEM63C (R403H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698437	NM_020431.4(TMEM63C):c.1216del (p.Trp406fs)	TMEM63C (W406fs)	Deletion (frameshift variant)	Spastic paraplegia 87, autosomal recessive	GPathogenic
Select item 3327157	NM_020431.4(TMEM63C):c.1321C>T (p.Arg441Cys)	TMEM63C (R441C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179592	NM_020431.4(TMEM63C):c.1322G>A (p.Arg441His)	TMEM63C (R441H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241506	NM_020431.4(TMEM63C):c.1393G>C (p.Val465Leu)	TMEM63C (V465L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299811	NM_020431.4(TMEM63C):c.1398A>G (p.Ile466Met)	TMEM63C (I466M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292775	NM_020431.4(TMEM63C):c.1406T>A (p.Leu469Gln)	TMEM63C (L469Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327160	NM_020431.4(TMEM63C):c.1431C>T (p.Leu477=)	TMEM63C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3179594	NM_020431.4(TMEM63C):c.1540G>C (p.Asp514His)	TMEM63C (D514H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698439	NM_020431.4(TMEM63C):c.1572dup (p.Tyr525fs)	TMEM63C (Y525fs)	Duplication (frameshift variant)	Spastic paraplegia 87, autosomal recessive	GPathogenic
Select item 1698436	NM_020431.4(TMEM63C):c.1641_1656delinsGGC (p.Asn547fs)	TMEM63C (N547fs)	Indel (frameshift variant)	Spastic paraplegia 87, autosomal recessive	GPathogenic
Select item 2221936	NM_020431.4(TMEM63C):c.1718G>A (p.Arg573His)	TMEM63C (R573H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603161	NM_020431.4(TMEM63C):c.1748G>A (p.Arg583Lys)	TMEM63C (R583K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179595	NM_020431.4(TMEM63C):c.1754A>G (p.Asn585Ser)	TMEM63C (N585S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312563	NM_020431.4(TMEM63C):c.1788T>G (p.Phe596Leu)	TMEM63C (F596L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179596	NM_020431.4(TMEM63C):c.1917G>T (p.Met639Ile)	TMEM63C (M639I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598241	NM_020431.4(TMEM63C):c.2032C>T (p.Arg678Trp)	TMEM63C (R678W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363439	NM_020431.4(TMEM63C):c.2128C>T (p.Arg710Trp)	TMEM63C (R710W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214506	NM_020431.4(TMEM63C):c.2269G>A (p.Ala757Thr)	TMEM63C (A757T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228671	NM_020431.4(TMEM63C):c.2361G>T (p.Glu787Asp)	TMEM63C (E787D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410956	NM_020431.4(TMEM63C):c.2386G>A (p.Gly796Arg)	TMEM63C (G796R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
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 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 685506	GRCh37/hg19 14q24.3(chr14:77587406-77698358)x3	TMEM63C, ZDHHC22	Copy number gain	not provided	GUncertain significance
Select item 564094	GRCh37/hg19 14q24.3(chr14:77692709-77801431)x1	TMEM63C, NGB +2 more	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 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441709	GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1	ADCK1, AHSA1 +27 more	Copy number loss	See cases	GUncertain significance
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 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic

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Items: 65