TMED10[gene] - ClinVar

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Items: 24

	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 148020	GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1	ACYP1, BATF +71 more	Copy number loss	See cases	GUncertain significance
Select item 3178348	NM_006827.6(TMED10):c.593T>C (p.Ile198Thr)	TMED10 (I198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495787	NM_006827.6(TMED10):c.569G>C (p.Ser190Thr)	TMED10 (S190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786251	NM_006827.6(TMED10):c.539-11dup	TMED10	Duplication (intron variant)	not provided	GBenign
Select item 1253710	NM_006827.6(TMED10):c.539-28T>C	TMED10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3178346	NM_006827.6(TMED10):c.481A>G (p.Ile161Val)	TMED10 (I161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234069	NM_006827.6(TMED10):c.349A>G (p.Ile117Val)	LOC125048444, TMED10 (I117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293318	NM_006827.6(TMED10):c.311T>C (p.Met104Thr)	TMED10 (M104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265893	NM_006827.6(TMED10):c.199G>A (p.Ala67Thr)	TMED10 (A67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	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 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
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 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: 24