TMEM59L[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 2364941	NM_012109.3(TMEM59L):c.28C>T (p.Pro10Ser)	TMEM59L (P10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596213	NM_012109.3(TMEM59L):c.113A>T (p.Asp38Val)	TMEM59L (D38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179549	NM_012109.3(TMEM59L):c.214G>C (p.Val72Leu)	TMEM59L (V72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602214	NM_012109.3(TMEM59L):c.266T>G (p.Phe89Cys)	TMEM59L (F89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179550	NM_012109.3(TMEM59L):c.290A>G (p.Asn97Ser)	TMEM59L (N97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312702	NM_012109.3(TMEM59L):c.308G>A (p.Cys103Tyr)	TMEM59L (C103Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610685	NM_012109.3(TMEM59L):c.344C>T (p.Ala115Val)	TMEM59L (A115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327135	NM_012109.3(TMEM59L):c.386C>T (p.Ala129Val)	TMEM59L (A129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463221	NM_012109.3(TMEM59L):c.424G>C (p.Ala142Pro)	TMEM59L (A142P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478350	NM_012109.3(TMEM59L):c.453C>A (p.Asp151Glu)	TMEM59L (D151E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786668	NM_012109.3(TMEM59L):c.510C>T (p.Ser170=)	TMEM59L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2617422	NM_012109.3(TMEM59L):c.595G>A (p.Gly199Arg)	TMEM59L (G199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179551	NM_012109.3(TMEM59L):c.716C>G (p.Thr239Ser)	TMEM59L (T239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539382	NM_012109.3(TMEM59L):c.794T>G (p.Leu265Arg)	TMEM59L (L265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567140	NM_012109.3(TMEM59L):c.832G>A (p.Val278Met)	TMEM59L (V278M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 23