TMEM63B[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 152076	GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3	AARS2, CAPN11 +85 more	Copy number gain	See cases	GLikely benign
Select item 2579521	NM_018426.3(TMEM63B):c.130G>A (p.Val44Met)	TMEM63B (V44M)	Single nucleotide variant (missense variant)	TMEM63B-associated disorder +2 more	GPathogenic/Likely pathogenic
Select item 2269777	NM_018426.3(TMEM63B):c.226A>G (p.Thr76Ala)	TMEM63B (T76A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368176	NM_018426.3(TMEM63B):c.244C>T (p.Arg82Trp)	TMEM63B (R82W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579347	NM_018426.3(TMEM63B):c.259G>T (p.Asp87Tyr)	TMEM63B (D87Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3179590	NM_018426.3(TMEM63B):c.314G>A (p.Arg105Gln)	TMEM63B (R105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397504	NM_018426.3(TMEM63B):c.392C>T (p.Ala131Val)	TMEM63B (A131V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398410	NM_018426.3(TMEM63B):c.467G>A (p.Arg156Gln)	TMEM63B (R156Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3370189	NM_018426.3(TMEM63B):c.724C>G (p.Leu242Val)	TMEM63B (L242V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558930	NM_018426.3(TMEM63B):c.794C>T (p.Pro265Leu)	TMEM63B (P265L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401967	NM_018426.3(TMEM63B):c.817C>T (p.Arg273Cys)	TMEM63B (R273C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334015	NM_018426.3(TMEM63B):c.853G>A (p.Asp285Asn)	TMEM63B (D285N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579529	NM_018426.3(TMEM63B):c.874G>A (p.Glu292Lys)	TMEM63B (E292K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2371168	NM_018426.3(TMEM63B):c.944C>T (p.Pro315Leu)	TMEM63B (P315L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492721	NM_018426.3(TMEM63B):c.1035A>C (p.Glu345Asp)	TMEM63B (E345D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179585	NM_018426.3(TMEM63B):c.1045C>T (p.Arg349Trp)	TMEM63B (R349W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603619	NM_018426.3(TMEM63B):c.1198G>A (p.Glu400Lys)	TMEM63B (E400K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360275	NM_018426.3(TMEM63B):c.1217A>C (p.Asn406Thr)	TMEM63B (N406T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365005	NM_018426.3(TMEM63B):c.1277G>T (p.Arg426Leu)	TMEM63B (R426L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3179586	NM_018426.3(TMEM63B):c.1309A>G (p.Ile437Val)	TMEM63B (I437V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582110	NM_018426.3(TMEM63B):c.1358TCA[2] (p.Ile455del)	TMEM63B (I455del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2579531	NM_018426.3(TMEM63B):c.1377C>G (p.Asp459Glu)	TMEM63B (D459E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579579	NM_018426.3(TMEM63B):c.1387G>A (p.Val463Ile)	TMEM63B (V463I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2580897	NM_018426.3(TMEM63B):c.1429C>G (p.Gln477Glu)	TMEM63B (Q477E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3367518	NM_018426.3(TMEM63B):c.1442C>T (p.Thr481Ile)	TMEM63B (T481I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3327155	NM_018426.3(TMEM63B):c.1625G>A (p.Arg542His)	TMEM63B (R542H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1291125	NM_018426.3(TMEM63B):c.1767A>G (p.Pro589=)	LOC132089394, TMEM63B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2323058	NM_018426.3(TMEM63B):c.1778T>C (p.Met593Thr)	LOC132089394, TMEM63B (M593T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334226	NM_018426.3(TMEM63B):c.1904T>C (p.Met635Thr)	TMEM63B (M635T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579533	NM_018426.3(TMEM63B):c.1942G>A (p.Gly648Arg)	TMEM63B (G648R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751944	NM_018426.3(TMEM63B):c.1948A>C (p.Met650Leu)	TMEM63B (M650L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579536	NM_018426.3(TMEM63B):c.1975_1977delinsA (p.Asp659fs)	TMEM63B (D659fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 2284283	NM_018426.3(TMEM63B):c.1996G>A (p.Ala666Thr)	TMEM63B (A666T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579540	NM_018426.3(TMEM63B):c.2110G>A (p.Gly704Arg)	TMEM63B (G704R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3179587	NM_018426.3(TMEM63B):c.2131A>G (p.Met711Val)	TMEM63B (M711V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327154	NM_018426.3(TMEM63B):c.2237C>T (p.Thr746Met)	TMEM63B (T746M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623829	NM_018426.3(TMEM63B):c.2284G>A (p.Ala762Thr)	TMEM63B (A762T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482037	NM_018426.3(TMEM63B):c.2290G>T (p.Ala764Ser)	TMEM63B (A764S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1896577	NM_018426.3(TMEM63B):c.2360_2383dup (p.Asp794_Glu795insGlyAlaProGlySerSerGlyAsp)	TMEM63B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2553192	NM_018426.3(TMEM63B):c.2386C>A (p.Pro796Thr)	TMEM63B (P796T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3372676	NM_018426.3(TMEM63B):c.2416T>A (p.Leu806Met)	TMEM63B (L806M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679702	NM_018426.3(TMEM63B):c.2431G>A (p.Asp811Asn)	TMEM63B (D811N)	Single nucleotide variant (missense variant)	TMEM63B-related Neurodevelopmental disorder	GUncertain significance
Select item 3179588	NM_018426.3(TMEM63B):c.2441C>T (p.Thr814Met)	TMEM63B (T814M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596219	NM_018426.3(TMEM63B):c.2447C>T (p.Thr816Ile)	TMEM63B (T816I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179589	NM_018426.3(TMEM63B):c.2464G>A (p.Glu822Lys)	TMEM63B (E822K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 1809270	GRCh37/hg19 6p21.1(chr6:43571555-44154599)x3	CAPN11, GTPBP2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 3359496	NM_018426.3(TMEM63B):c.1187C>T (p.Ser396Leu)	TMEM63B (S396L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 57