TMEM63A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 152802	GRCh38/hg38 1q42.12(chr1:225730526-225894702)x1	LOC129932616, LOC129932617 +16 more	Copy number loss	See cases	GUncertain significance
Select item 151437	GRCh38/hg38 1q42.12(chr1:225751478-225894702)x3	EPHX1, LEFTY1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 3089713	NM_001136018.4(EPHX1):c.944A>G (p.Asn315Ser)	EPHX1, TMEM63A (N306S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467619	NM_001136018.4(EPHX1):c.982A>G (p.Lys328Glu)	EPHX1, TMEM63A (K319E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1679867	NM_001136018.4(EPHX1):c.1004C>T (p.Thr335Met)	EPHX1, TMEM63A (T146M +4 more)	Single nucleotide variant (missense variant +1 more)	Neutropenia +1 more	GBenign
Select item 1295073	NM_001136018.4(EPHX1):c.1041-181G>A	EPHX1, TMEM63A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179465	NM_001136018.4(EPHX1):c.1071C>T (p.Asn357=)	EPHX1, TMEM63A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3089705	NM_001136018.4(EPHX1):c.1072G>A (p.Val358Ile)	EPHX1, TMEM63A (V169I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2275421	NM_001136018.4(EPHX1):c.1091C>T (p.Thr364Ile)	EPHX1, TMEM63A (T288I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407262	NM_001136018.4(EPHX1):c.1115G>A (p.Arg372His)	EPHX1, TMEM63A (R356H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089706	NM_001136018.4(EPHX1):c.1147A>C (p.Met383Leu)	EPHX1, TMEM63A (M307L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267850	NM_001136018.4(EPHX1):c.1165C>T (p.Arg389Trp)	EPHX1, TMEM63A (R200W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1266897	NM_001136018.4(EPHX1):c.1166+205G>T	EPHX1, TMEM63A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264579	NM_001136018.4(EPHX1):c.1166+206C>A	EPHX1, TMEM63A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174166	NM_001136018.4(EPHX1):c.1167-170A>G	EPHX1, TMEM63A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780303	NM_001136018.4(EPHX1):c.1216T>C (p.Leu406=)	TMEM63A, EPHX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 746952	NM_001136018.4(EPHX1):c.1223C>T (p.Thr408Met)	EPHX1, TMEM63A (T408M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 771319	NM_001136018.4(EPHX1):c.1239G>A (p.Val413=)	EPHX1, TMEM63A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1223052	NM_001136018.4(EPHX1):c.1248G>A (p.Lys416=)	EPHX1, TMEM63A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780304	NM_001136018.4(EPHX1):c.1299G>A (p.Ala433=)	EPHX1, TMEM63A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2558064	NM_001136018.4(EPHX1):c.1305T>G (p.Phe435Leu)	EPHX1, TMEM63A (F246L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721093	NM_001136018.4(EPHX1):c.1314G>A (p.Pro438=)	EPHX1, TMEM63A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2375644	NM_001136018.4(EPHX1):c.1324G>A (p.Ala442Thr)	EPHX1, TMEM63A (A253T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089707	NM_001136018.4(EPHX1):c.1328A>T (p.Gln443Leu)	EPHX1, TMEM63A (Q254L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1275216	NM_001136018.4(EPHX1):c.1350G>C (p.Ser450=)	EPHX1, TMEM63A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1248948	NM_001136018.4(EPHX1):c.*35A>C	EPHX1, TMEM63A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3179580	NM_014698.3(TMEM63A):c.2390C>T (p.Thr797Met)	TMEM63A (T797M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2529987	NM_014698.3(TMEM63A):c.2386G>A (p.Ala796Thr)	TMEM63A (A796T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1298454	NM_014698.3(TMEM63A):c.2369A>G (p.Gln790Arg)	TMEM63A (Q790R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2524912	NM_014698.3(TMEM63A):c.2353G>A (p.Gly785Arg)	TMEM63A (G785R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3179579	NM_014698.3(TMEM63A):c.2340C>G (p.Ile780Met)	TMEM63A (I780M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358463	NM_014698.3(TMEM63A):c.2318A>G (p.Gln773Arg)	TMEM63A (Q773R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701126	NM_014698.3(TMEM63A):c.2286G>A (p.Ser762=)	TMEM63A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2206422	NM_014698.3(TMEM63A):c.2285C>T (p.Ser762Leu)	TMEM63A (S762L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234941	NM_014698.3(TMEM63A):c.2257G>A (p.Val753Met)	TMEM63A (V753M)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 19, transient infantile	GUncertain significance
Select item 2310363	NM_014698.3(TMEM63A):c.2257G>C (p.Val753Leu)	TMEM63A (V753L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570753	NM_014698.3(TMEM63A):c.2251-6T>C	TMEM63A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2297572	NM_014698.3(TMEM63A):c.2243C>T (p.Pro748Leu)	TMEM63A (P748L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179577	NM_014698.3(TMEM63A):c.2237C>G (p.Pro746Arg)	TMEM63A (P746R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591972	NM_014698.3(TMEM63A):c.2228C>T (p.Ala743Val)	TMEM63A (A743V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179576	NM_014698.3(TMEM63A):c.2198C>T (p.Pro733Leu)	TMEM63A (P733L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248615	NM_014698.3(TMEM63A):c.2147G>A (p.Cys716Tyr)	TMEM63A (C716Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290882	NM_014698.3(TMEM63A):c.2120C>T (p.Thr707Ile)	TMEM63A (T707I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250821	NM_014698.3(TMEM63A):c.2085C>T (p.Pro695=)	TMEM63A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064780	NM_014698.3(TMEM63A):c.2072G>A (p.Gly691Asp)	TMEM63A (G691D)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 19, transient infantile	GUncertain significance
Select item 2335314	NM_014698.3(TMEM63A):c.2051T>A (p.Phe684Tyr)	TMEM63A (F684Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490271	NM_014698.3(TMEM63A):c.2033G>T (p.Cys678Phe)	TMEM63A (C678F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699410	NM_014698.3(TMEM63A):c.2009A>G (p.Gln670Arg)	TMEM63A (Q670R)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 19, transient infantile	GUncertain significance
Select item 3058199	NM_014698.3(TMEM63A):c.1999G>A (p.Ala667Thr)	TMEM63A (A667T)	Single nucleotide variant (missense variant)	TMEM63A-related disorder	GLikely benign
Select item 3063697	NM_014698.3(TMEM63A):c.1973A>G (p.Lys658Arg)	TMEM63A (K658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217452	NM_014698.3(TMEM63A):c.1957G>A (p.Val653Ile)	TMEM63A (V653I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228497	NM_014698.3(TMEM63A):c.1915A>G (p.Ile639Val)	TMEM63A (I639V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672384	NM_014698.3(TMEM63A):c.1906C>G (p.Leu636Val)	TMEM63A (L636V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2639963	NM_014698.3(TMEM63A):c.1895C>T (p.Ala632Val)	TMEM63A (A632V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2606686	NM_014698.3(TMEM63A):c.1861A>T (p.Ile621Phe)	TMEM63A (I621F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3041317	NM_014698.3(TMEM63A):c.1750C>T (p.Arg584Cys)	TMEM63A (R584C)	Single nucleotide variant (missense variant)	TMEM63A-related disorder	GLikely benign
Select item 3067495	NM_014698.3(TMEM63A):c.1721G>A (p.Arg574Gln)	TMEM63A (R574Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 689461	NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser)	TMEM63A (G567S)	Single nucleotide variant (missense variant)	Leukodystrophy	GPathogenic
Select item 1698712	NM_014698.3(TMEM63A):c.1675T>C (p.Tyr559His)	TMEM63A (Y559H)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 19, transient infantile	GPathogenic
Select item 2575216	NM_014698.3(TMEM63A):c.1657G>T (p.Gly553Cys)	TMEM63A (G553C)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 19, transient infantile	GUncertain significance
Select item 2634313	NM_014698.3(TMEM63A):c.1635-2A>C	TMEM63A	Single nucleotide variant (splice acceptor variant)	TMEM63A-related disorder	GUncertain significance
Select item 2463595	NM_014698.3(TMEM63A):c.1599T>G (p.Phe533Leu)	TMEM63A (F533L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2639964	NM_014698.3(TMEM63A):c.1583dup (p.Phe529fs)	TMEM63A (F529fs)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 3065543	NM_014698.3(TMEM63A):c.1571+3A>G	TMEM63A	Single nucleotide variant (intron variant)	Leukodystrophy, hypomyelinating, 19, transient infantile	GUncertain significance
Select item 1879113	NM_014698.3(TMEM63A):c.1533C>T (p.Ile511=)	TMEM63A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2352131	NM_014698.3(TMEM63A):c.1505T>C (p.Met502Thr)	TMEM63A (M502T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2608622	NM_014698.3(TMEM63A):c.1497C>G (p.Asn499Lys)	TMEM63A (N499K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289812	NM_014698.3(TMEM63A):c.1496A>G (p.Asn499Ser)	TMEM63A (N499S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231413	NM_014698.3(TMEM63A):c.1495A>C (p.Asn499His)	TMEM63A (N499H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231412	NM_014698.3(TMEM63A):c.1494A>C (p.Glu498Asp)	TMEM63A (E498D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231411	NM_014698.3(TMEM63A):c.1493A>C (p.Glu498Ala)	TMEM63A (E498A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224071	NM_014698.3(TMEM63A):c.1421C>A (p.Ser474Tyr)	TMEM63A (S474Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 689460	NM_014698.3(TMEM63A):c.1385T>A (p.Ile462Asn)	TMEM63A (I462N)	Single nucleotide variant (missense variant)	Leukodystrophy	GPathogenic
Select item 3179575	NM_014698.3(TMEM63A):c.1379A>C (p.Asn460Thr)	TMEM63A (N460T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342228	NM_014698.3(TMEM63A):c.1378-49C>T	TMEM63A	Single nucleotide variant (intron variant)	Leukodystrophy, hypomyelinating, 19, transient infantile	GBenign
Select item 2337966	NM_014698.3(TMEM63A):c.1370C>T (p.Ala457Val)	TMEM63A (A457V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711241	NM_014698.3(TMEM63A):c.1309A>G (p.Thr437Ala)	TMEM63A (T437A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2203852	NM_014698.3(TMEM63A):c.1249C>T (p.Arg417Cys)	TMEM63A (R417C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179574	NM_014698.3(TMEM63A):c.1235C>G (p.Ser412Cys)	TMEM63A (S412C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273694	NM_014698.3(TMEM63A):c.1220G>T (p.Cys407Phe)	TMEM63A (C407F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179573	NM_014698.3(TMEM63A):c.1115G>C (p.Cys372Ser)	TMEM63A (C372S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302342	NM_014698.3(TMEM63A):c.1105G>A (p.Ala369Thr)	TMEM63A (A369T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342229	NM_014698.3(TMEM63A):c.1086-48del	TMEM63A	Deletion (intron variant)	Leukodystrophy, hypomyelinating, 19, transient infantile	GBenign
Select item 1802267	NM_014698.3(TMEM63A):c.1049C>A (p.Ala350Asp)	TMEM63A (A350D)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 19, transient infantile	GUncertain significance
Select item 3026113	NM_014698.3(TMEM63A):c.1020C>G (p.Arg340=)	TMEM63A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1690631	NM_014698.3(TMEM63A):c.952-9T>G	TMEM63A	Single nucleotide variant (intron variant)	See cases	GUncertain significance

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