TMEM223[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 3173563	NM_006473.4(TAF6L):c.101C>T (p.Ala34Val)	TAF6L, TMEM223 (A34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379929	NM_006473.4(TAF6L):c.257A>T (p.Gln86Leu)	TAF6L, TMEM223 (Q86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173571	NM_006473.4(TAF6L):c.289G>A (p.Gly97Ser)	TAF6L, TMEM223 (G97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243295	NM_006473.4(TAF6L):c.310G>C (p.Asp104His)	TAF6L, TMEM223 (D104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467785	NM_006473.4(TAF6L):c.490G>A (p.Val164Met)	TAF6L, TMEM223 (V164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392752	NM_006473.4(TAF6L):c.566T>C (p.Ile189Thr)	TAF6L, TMEM223 (I189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387716	NM_006473.4(TAF6L):c.572C>T (p.Ala191Val)	TAF6L, TMEM223 (A191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593373	NM_006473.4(TAF6L):c.577C>G (p.Leu193Val)	TAF6L, TMEM223 (L193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237462	NM_006473.4(TAF6L):c.674G>A (p.Arg225His)	TAF6L, TMEM223 (R225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324284	NM_006473.4(TAF6L):c.677A>C (p.Asn226Thr)	TAF6L, TMEM223 (N226T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173572	NM_006473.4(TAF6L):c.707G>A (p.Arg236His)	TAF6L, TMEM223 (R236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173573	NM_006473.4(TAF6L):c.764A>G (p.Asn255Ser)	TAF6L, TMEM223 (N255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546102	NM_006473.4(TAF6L):c.815G>A (p.Ser272Asn)	TAF6L, TMEM223 (S272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173574	NM_006473.4(TAF6L):c.848G>A (p.Ser283Asn)	TAF6L, TMEM223 (S283N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399213	NM_006473.4(TAF6L):c.859C>A (p.Gln287Lys)	TAF6L, TMEM223 (Q287K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173575	NM_006473.4(TAF6L):c.931G>A (p.Val311Met)	TAF6L, TMEM223 (V311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518721	NM_006473.4(TAF6L):c.1196G>A (p.Ser399Asn)	LOC130005860, TAF6L +1 more (S399N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220341	NM_006473.4(TAF6L):c.1196G>C (p.Ser399Thr)	LOC130005860, TAF6L +1 more (S399T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260567	NM_006473.4(TAF6L):c.1226G>A (p.Gly409Asp)	LOC130005860, TAF6L +1 more (G409D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324282	NM_006473.4(TAF6L):c.1295C>T (p.Ser432Phe)	TAF6L, TMEM223 (S432F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330479	NM_006473.4(TAF6L):c.1384G>T (p.Ala462Ser)	TAF6L, TMEM223 (A462S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341597	NM_006473.4(TAF6L):c.1402C>G (p.Pro468Ala)	TAF6L, TMEM223 (P468A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173564	NM_006473.4(TAF6L):c.1448G>A (p.Arg483Gln)	TAF6L, TMEM223 (R483Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173566	NM_006473.4(TAF6L):c.1495G>C (p.Asp499His)	TAF6L, TMEM223 (D499H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173565	NM_006473.4(TAF6L):c.1495G>A (p.Asp499Asn)	TAF6L, TMEM223 (D499N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379186	NM_006473.4(TAF6L):c.1507C>T (p.Arg503Trp)	LOC130005861, TAF6L +1 more (R503W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521230	NM_006473.4(TAF6L):c.1537G>T (p.Ala513Ser)	LOC130005861, TAF6L +1 more (A513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612255	NM_006473.4(TAF6L):c.1555T>C (p.Ser519Pro)	LOC130005861, TAF6L +1 more (S519P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173567	NM_006473.4(TAF6L):c.1611G>C (p.Gln537His)	TAF6L, TMEM223 (Q537H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212212	NM_006473.4(TAF6L):c.1676A>T (p.His559Leu)	TAF6L, TMEM223 (H559L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605278	NM_006473.4(TAF6L):c.1700G>A (p.Arg567Gln)	TAF6L, TMEM223 (R567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324283	NM_006473.4(TAF6L):c.1772C>T (p.Ala591Val)	TAF6L, TMEM223 (A591V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324285	NM_006473.4(TAF6L):c.1793T>C (p.Leu598Pro)	TAF6L, TMEM223 (L598P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173568	NM_006473.4(TAF6L):c.1813A>G (p.Ser605Gly)	TAF6L, TMEM223 (S605G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393800	NM_006473.4(TAF6L):c.1819C>T (p.Pro607Ser)	TAF6L, TMEM223 (P607S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219915	NM_006473.4(TAF6L):c.1822G>A (p.Ala608Thr)	TAF6L, TMEM223 (A608T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220552	NM_006473.4(TAF6L):c.1838T>G (p.Leu613Arg)	TAF6L, TMEM223 (L613R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173569	NM_006473.4(TAF6L):c.1847A>T (p.Tyr616Phe)	TAF6L, TMEM223 (Y616F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608530	NM_006473.4(TAF6L):c.1864C>G (p.Leu622Val)	TAF6L, TMEM223 (L622V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557157	NM_199337.3(TMEM179B):c.22C>A (p.Arg8Ser)	TMEM179B, TMEM223 (R8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387156	NM_199337.3(TMEM179B):c.31C>G (p.Leu11Val)	TMEM179B, TMEM223 (L11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179004	NM_199337.3(TMEM179B):c.34G>C (p.Ala12Pro)	TMEM179B, TMEM223 (A12P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334225	NM_199337.3(TMEM179B):c.37C>G (p.Leu13Val)	TMEM179B, TMEM223 (L13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326876	NM_199337.3(TMEM179B):c.56T>C (p.Leu19Pro)	TMEM179B, TMEM223 (L19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326874	NM_199337.3(TMEM179B):c.70G>A (p.Ala24Thr)	TMEM179B, TMEM223 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308981	NM_199337.3(TMEM179B):c.169C>T (p.Pro57Ser)	TMEM179B, TMEM223 (P57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179003	NM_199337.3(TMEM179B):c.269T>C (p.Ile90Thr)	TMEM179B, TMEM223 (I90T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326873	NM_199337.3(TMEM179B):c.271G>A (p.Glu91Lys)	TMEM223, TMEM179B (E91K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361688	NM_199337.3(TMEM179B):c.286G>C (p.Gly96Arg)	TMEM179B, TMEM223 (G41R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278218	NM_199337.3(TMEM179B):c.304A>G (p.Ile102Val)	TMEM179B, TMEM223 (I102V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326875	NM_199337.3(TMEM179B):c.332T>C (p.Val111Ala)	TMEM223, TMEM179B (V111A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279650	NM_199337.3(TMEM179B):c.452C>T (p.Pro151Leu)	TMEM179B, TMEM223 (P137L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315572	NM_199337.3(TMEM179B):c.461C>G (p.Thr154Ser)	TMEM179B, TMEM223 (T140S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611467	NM_199337.3(TMEM179B):c.481A>G (p.Asn161Asp)	TMEM179B, TMEM223 (N106D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179005	NM_199337.3(TMEM179B):c.509G>C (p.Trp170Ser)	TMEM179B, TMEM223 (W156S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459428	NM_199337.3(TMEM179B):c.517T>A (p.Leu173Met)	TMEM179B, TMEM223 (L118M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2485426	NM_199337.3(TMEM179B):c.549G>C (p.Gln183His)	TMEM179B, TMEM223 (Q128H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2407541	NM_199337.3(TMEM179B):c.644G>A (p.Arg215His)	TMEM179B, TMEM223 (R160H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2408653	NM_001080501.3(TMEM223):c.599G>T (p.Arg200Leu)	TMEM223 (R200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518820	NM_001080501.3(TMEM223):c.590G>A (p.Gly197Asp)	TMEM223 (G197D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596716	NM_001080501.3(TMEM223):c.566C>T (p.Thr189Ile)	TMEM223 (T189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257726	NM_001080501.3(TMEM223):c.562A>C (p.Asn188His)	TMEM223 (N188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249976	NM_001080501.3(TMEM223):c.540G>C (p.Leu180Phe)	TMEM223 (L180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355555	NM_001080501.3(TMEM223):c.521G>A (p.Arg174Gln)	TMEM223 (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326972	NM_001080501.3(TMEM223):c.511G>A (p.Val171Ile)	TMEM223 (V171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326975	NM_001080501.3(TMEM223):c.490C>T (p.Pro164Ser)	TMEM223 (P164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215382	NM_001080501.3(TMEM223):c.478C>T (p.Arg160Trp)	TMEM223 (R160W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326974	NM_001080501.3(TMEM223):c.469A>G (p.Met157Val)	TMEM223 (M157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326973	NM_001080501.3(TMEM223):c.433G>T (p.Ala145Ser)	TMEM223 (A145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323319	NM_001080501.3(TMEM223):c.365G>A (p.Arg122His)	TMEM223 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480743	NM_001080501.3(TMEM223):c.364C>T (p.Arg122Cys)	TMEM223 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404051	NM_001080501.3(TMEM223):c.356G>A (p.Arg119Gln)	TMEM223 (R119Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491515	NM_001080501.3(TMEM223):c.346T>C (p.Phe116Leu)	TMEM223 (F116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332283	NM_001080501.3(TMEM223):c.331G>T (p.Gly111Cys)	TMEM223 (G111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282788	NM_001080501.3(TMEM223):c.320C>T (p.Ala107Val)	TMEM223 (A107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326971	NM_001080501.3(TMEM223):c.248A>G (p.Asn83Ser)	LOC130005862, TMEM223 (N83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179188	NM_001080501.3(TMEM223):c.212C>T (p.Pro71Leu)	LOC130005862, TMEM223 (P71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179187	NM_001080501.3(TMEM223):c.208C>T (p.Pro70Ser)	LOC130005862, TMEM223 (P70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398583	NM_001080501.3(TMEM223):c.191T>C (p.Val64Ala)	LOC130005862, TMEM223 (V64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553238	NM_001080501.3(TMEM223):c.121C>T (p.Arg41Trp)	LOC130005862, TMEM223 (R41W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382524	NM_001080501.3(TMEM223):c.58C>G (p.Leu20Val)	TMEM223 (L20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349442	NM_001080501.3(TMEM223):c.32G>T (p.Gly11Val)	TMEM223 (G11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236207	NM_001080501.3(TMEM223):c.26C>T (p.Pro9Leu)	TMEM223 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179186	NM_001080501.3(TMEM223):c.17G>A (p.Arg6Lys)	TMEM223 (R6K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235627	NM_001080501.3(TMEM223):c.7G>C (p.Ala3Pro)	LOC130005863, TMEM223 (A3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685584	GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3	CHRM1, HNRNPUL2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic

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Items: 100