TMEM184B[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 2544942	NM_012264.5(TMEM184B):c.1174G>A (p.Ala392Thr)	TMEM184B (A392T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227478	NM_012264.5(TMEM184B):c.1144G>A (p.Gly382Ser)	TMEM184B (G382S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212735	NM_012264.5(TMEM184B):c.1130G>A (p.Arg377His)	TMEM184B (R311H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609001	NM_012264.5(TMEM184B):c.1106C>A (p.Thr369Asn)	TMEM184B (T369N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240133	NM_012264.5(TMEM184B):c.1039C>T (p.His347Tyr)	TMEM184B (H347Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179044	NM_012264.5(TMEM184B):c.1037C>T (p.Pro346Leu)	TMEM184B (P346L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331836	NM_012264.5(TMEM184B):c.998T>C (p.Met333Thr)	TMEM184B (M333T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556658	NM_012264.5(TMEM184B):c.991G>T (p.Ala331Ser)	TMEM184B (A331S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326888	NM_012264.5(TMEM184B):c.731G>T (p.Ser244Ile)	TMEM184B (S178I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465798	NM_012264.5(TMEM184B):c.619G>A (p.Val207Ile)	TMEM184B (V141I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283374	NM_012264.5(TMEM184B):c.602G>A (p.Arg201Gln)	TMEM184B (R135Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561492	NM_012264.5(TMEM184B):c.274G>A (p.Ala92Thr)	TMEM184B (A92T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272772	NM_012264.5(TMEM184B):c.133G>T (p.Ala45Ser)	TMEM184B (A45S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459060	NM_012264.5(TMEM184B):c.70G>A (p.Val24Ile)	TMEM184B (V24I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179045	NM_012264.5(TMEM184B):c.38C>T (p.Ala13Val)	TMEM184B (A13V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3326887	NM_012264.5(TMEM184B):c.16G>A (p.Asp6Asn)	TMEM184B (D6N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509719	NM_012264.5(TMEM184B):c.11G>A (p.Arg4Lys)	TMEM184B (R4K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816564	GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	SH3BP1, CSNK1E +25 more	Copy number loss	not provided	GPathogenic
Select item 816479	GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1	NPTXR, FAM227A +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	ANKRD54, BAIAP2L2 +31 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395465	GRCh37/hg19 22q13.1(chr22:38322968-38965458)	BAIAP2L2, C22orf23 +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 41