ClinVar for Gene (Select 642987) - ClinVar

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Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326994	NM_001039763.4(TMEM232):c.1293G>T (p.Trp431Cys)	TMEM232 (W431C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326993	NM_001039763.4(TMEM232):c.635A>G (p.Tyr212Cys)	TMEM232 (Y212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326992	NM_001039763.4(TMEM232):c.663C>G (p.Phe221Leu)	TMEM232 (F221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326991	NM_001039763.4(TMEM232):c.328G>C (p.Gly110Arg)	TMEM232 (G110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179221	NM_001039763.4(TMEM232):c.982G>A (p.Val328Ile)	TMEM232 (V328I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179220	NM_001039763.4(TMEM232):c.865C>G (p.Leu289Val)	TMEM232 (L289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179219	NM_001039763.4(TMEM232):c.748G>A (p.Glu250Lys)	TMEM232 (E250K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179218	NM_001039763.4(TMEM232):c.697G>C (p.Glu233Gln)	TMEM232 (E233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179217	NM_001039763.4(TMEM232):c.551A>T (p.His184Leu)	TMEM232 (H184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179216	NM_001039763.4(TMEM232):c.41G>A (p.Cys14Tyr)	TMEM232 (C14Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179215	NM_001039763.4(TMEM232):c.286C>A (p.Pro96Thr)	TMEM232 (P96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179214	NM_001039763.4(TMEM232):c.266C>T (p.Ser89Phe)	TMEM232 (S89F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179213	NM_001039763.4(TMEM232):c.242A>C (p.Lys81Thr)	TMEM232 (K81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179212	NM_001039763.4(TMEM232):c.1960A>G (p.Lys654Glu)	TMEM232 (K654E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179211	NM_001039763.4(TMEM232):c.1830A>T (p.Glu610Asp)	TMEM232 (E610D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179210	NM_001039763.4(TMEM232):c.1627A>G (p.Ile543Val)	TMEM232 (I543V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179209	NM_001039763.4(TMEM232):c.1616A>C (p.Lys539Thr)	TMEM232 (K539T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179208	NM_001039763.4(TMEM232):c.1586C>A (p.Pro529His)	TMEM232 (P529H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179207	NM_001039763.4(TMEM232):c.1049A>G (p.Asp350Gly)	TMEM232 (D350G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2684425	GRCh37/hg19 5q22.1(chr5:110033493-110302047)x3	SLC25A46, TMEM232	Copy number gain	not provided	GUncertain significance
Select item 2671613	Single allele	CAMK4, EFNA5 +11 more	Deletion	not provided	GUncertain significance
Select item 2655629	NM_001039763.4(TMEM232):c.177A>G (p.Gln59=)	TMEM232	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593925	NM_001039763.4(TMEM232):c.885G>T (p.Gln295His)	TMEM232 (Q295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593924	NM_001039763.4(TMEM232):c.875A>G (p.His292Arg)	TMEM232 (H292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593840	NM_001039763.4(TMEM232):c.481G>A (p.Val161Ile)	TMEM232 (V161I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579710	NM_001039763.4(TMEM232):c.476A>G (p.Tyr159Cys)	TMEM232 (Y159C)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2548668	NM_001039763.4(TMEM232):c.724C>T (p.Pro242Ser)	TMEM232 (P242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518933	NM_001039763.4(TMEM232):c.677C>T (p.Ser226Leu)	TMEM232 (S226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499479	GRCh37/hg19 5q21.3-22.1(chr5:108634380-110629961)x3	CAMK4, MAN2A1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 2481247	NM_001039763.4(TMEM232):c.1541A>G (p.Tyr514Cys)	TMEM232 (Y514C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469255	NM_001039763.4(TMEM232):c.101G>A (p.Ser34Asn)	TMEM232 (S34N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469242	NM_001039763.4(TMEM232):c.1949T>A (p.Leu650His)	TMEM232 (L650H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340053	NM_001039763.4(TMEM232):c.145A>G (p.Lys49Glu)	TMEM232 (K49E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338122	NM_001039763.4(TMEM232):c.1735T>G (p.Phe579Val)	TMEM232 (F579V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323187	NM_001039763.4(TMEM232):c.737A>C (p.Lys246Thr)	TMEM232 (K246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303303	NM_001039763.4(TMEM232):c.407C>T (p.Ala136Val)	TMEM232 (A136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302969	NM_001039763.4(TMEM232):c.982G>T (p.Val328Leu)	TMEM232 (V328L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2285468	NM_001039763.4(TMEM232):c.165C>G (p.Phe55Leu)	TMEM232 (F55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284736	NM_001039763.4(TMEM232):c.506G>T (p.Gly169Val)	TMEM232 (G169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274479	NM_001039763.4(TMEM232):c.1496G>A (p.Ser499Asn)	TMEM232 (S499N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273785	NM_001039763.4(TMEM232):c.1103T>A (p.Ile368Asn)	TMEM232 (I368N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268085	NM_001039763.4(TMEM232):c.672A>C (p.Lys224Asn)	TMEM232 (K224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257079	NM_001039763.4(TMEM232):c.923T>C (p.Leu308Ser)	TMEM232 (L308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252377	NM_001039763.4(TMEM232):c.364G>A (p.Ala122Thr)	TMEM232 (A122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247512	NM_001039763.4(TMEM232):c.1450G>T (p.Ala484Ser)	TMEM232 (A484S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243132	NM_001039763.4(TMEM232):c.1420G>C (p.Asp474His)	TMEM232 (D474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213180	NM_001039763.4(TMEM232):c.1787T>C (p.Ile596Thr)	TMEM232 (I596T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809422	GRCh37/hg19 5q21.3-22.1(chr5:108523293-110365350)x1	FER, MAN2A1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1808412	GRCh37/hg19 5q21.3-22.1(chr5:108884219-110357965)x3	SLC25A46, MAN2A1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808130	GRCh37/hg19 5q22.1(chr5:109786744-110813071)x1	CAMK4, SLC25A46 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 1284497	NM_001303250.3(SLC25A46):c.10+2T>C	TMEM232, SLC25A46	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1219661	NM_001303250.3(SLC25A46):c.10+449T>C	SLC25A46, TMEM232	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187279	NM_001303250.3(SLC25A46):c.10+431T>C	SLC25A46, TMEM232	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 980175	GRCh37/hg19 5q22.1(chr5:109609489-109944867)x1	TMEM232	Copy number loss	not provided	GLikely benign
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442882	GRCh37/hg19 5q21.3-22.1(chr5:108604653-110636716)x4	CAMK4, MAN2A1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442744	GRCh37/hg19 5q21.3-22.1(chr5:109146807-111474789)x4	CAMK4, MAN2A1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 374891	NM_001303250.3(SLC25A46):c.10+526_11-1368delinsGGCCGGGCGCG	LOC129994343, LOC129994344 +2 more	Indel (intron variant)	Neuropathy, hereditary motor and sensory, type 6B	GPathogenic
Select item 253705	GRCh37/hg19 5q21.3-22.1(chr5:109438167-110644401)x3	WDR36, CAMK4 +3 more	Copy number gain	See cases	GUncertain significance
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 153994	GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1	EPB41L4A-DT, APC +134 more	Copy number loss	See cases	GPathogenic
Select item 153508	GRCh38/hg38 5q22.1(chr5:110469276-111738442)x1	CAMK4, LOC126807474 +32 more	Copy number loss	See cases	GUncertain significance
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 151648	GRCh38/hg38 5q22.1(chr5:110290955-110606153)x1	MIR548F3, TMEM232	Copy number loss	See cases	GBenign
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 149068	GRCh38/hg38 5q21.3-22.1(chr5:106547519-110687501)x3	EFNA5, FBXL17 +66 more	Copy number gain	See cases	GUncertain significance
Select item 148572	GRCh38/hg38 5q22.1(chr5:110273610-110606212)x1	MIR548F3, TMEM232	Copy number loss	See cases	GUncertain significance
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 59447	GRCh38/hg38 5q22.1(chr5:110564896-111731572)x3	CAMK4, LOC126807474 +31 more	Copy number gain	See cases	GUncertain significance
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 89