ClinVar for Gene (Select 374882) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326940	NM_198536.3(TMEM205):c.521G>A (p.Ser174Asn)	TMEM205 (S174N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326939	NM_198536.3(TMEM205):c.39G>A (p.Met13Ile)	TMEM205 (M13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326938	NM_198536.3(TMEM205):c.310C>T (p.Arg104Cys)	TMEM205 (R104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326937	NM_198536.3(TMEM205):c.421C>T (p.Arg141Cys)	TMEM205 (R141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326936	NM_198536.3(TMEM205):c.7G>A (p.Glu3Lys)	TMEM205 (E3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179136	NM_198536.3(TMEM205):c.81G>A (p.Met27Ile)	TMEM205 (M27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179135	NM_198536.3(TMEM205):c.514G>T (p.Val172Phe)	TMEM205 (V172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179134	NM_198536.3(TMEM205):c.460C>T (p.Arg154Cys)	TMEM205 (R154C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179133	NM_198536.3(TMEM205):c.371G>A (p.Arg124Gln)	TMEM205 (R124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179132	NM_198536.3(TMEM205):c.203A>G (p.Asn68Ser)	TMEM205 (N68S)	Single nucleotide variant (missense variant)	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 2620278	NM_198536.3(TMEM205):c.128G>A (p.Arg43Gln)	TMEM205 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613647	NM_198536.3(TMEM205):c.26G>C (p.Gly9Ala)	TMEM205 (G9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597135	NM_198536.3(TMEM205):c.191G>C (p.Cys64Ser)	TMEM205 (C64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543949	NM_198536.3(TMEM205):c.160T>C (p.Phe54Leu)	TMEM205 (F54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456013	NM_198536.3(TMEM205):c.514G>A (p.Val172Ile)	TMEM205 (V172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	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 2372551	NM_198536.3(TMEM205):c.493T>C (p.Ser165Pro)	TMEM205 (S165P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323675	NM_198536.3(TMEM205):c.382G>A (p.Gly128Arg)	TMEM205 (G128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301665	NM_198536.3(TMEM205):c.382G>T (p.Gly128Trp)	TMEM205 (G128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294697	NM_198536.3(TMEM205):c.257C>A (p.Ala86Asp)	TMEM205 (A86D)	Single nucleotide variant (missense variant)	not specified	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 983187	GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1	ANGPTL8, C19orf38 +22 more	Copy number loss	See cases	GPathogenic
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816066	GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3	ELOF1, EPOR +23 more	Copy number gain	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 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
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 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
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: 35