ClinVar for Gene (Select 11018) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326601	NM_006858.4(TMED1):c.488C>T (p.Thr163Ile)	TMED1 (T163I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326599	NM_006858.4(TMED1):c.485G>A (p.Arg162Gln)	TMED1 (R162Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326598	NM_006858.4(TMED1):c.484C>T (p.Arg162Trp)	TMED1 (R162W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248377	NC_000019.9:g.(?_10828919)_(11222335_?)del	C19orf38, CARM1 +7 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3178345	NM_006858.4(TMED1):c.37T>G (p.Trp13Gly)	TMED1 (W13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178344	NM_006858.4(TMED1):c.277C>T (p.His93Tyr)	TMED1 (H93Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178343	NM_006858.4(TMED1):c.250A>G (p.Ser84Gly)	TMED1 (S84G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684884	GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3	AP1M2, ATG4D +18 more	Copy number gain	not provided	GUncertain significance
Select item 2621629	NM_006858.4(TMED1):c.322G>A (p.Asp108Asn)	TMED1 (D108N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590192	NM_006858.4(TMED1):c.98A>C (p.Glu33Ala)	TMED1 (E33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498798	GRCh37/hg19 19p13.2(chr19:10624491-10969019)x3	ILF3, AP1M2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2460394	NM_006858.4(TMED1):c.550A>C (p.Asn184His)	TMED1 (N184H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 2380131	NM_006858.4(TMED1):c.221T>A (p.Leu74Gln)	TMED1 (L74Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366138	NM_006858.4(TMED1):c.74G>A (p.Gly25Glu)	TMED1 (G25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808277	GRCh37/hg19 19p13.2(chr19:10871121-11012295)x1	C19orf38, CARM1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 1041299	NC_000019.9:g.(?_10912954)_(11200309_?)dup	C19orf38, CARM1 +7 more	Duplication	Familial hypercholesterolemia	GUncertain significance
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816065	GRCh37/hg19 19p13.2(chr19:10632623-11135294)x3	AP1M2, QTRT1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 688450	GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1	CDKN2D, DNM2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
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
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 34