CMTM5[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2527241	NM_001288746.2(CMTM5):c.23G>A (p.Arg8Gln)	CMTM5 (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228832	NM_001288746.2(CMTM5):c.70G>A (p.Ala24Thr)	CMTM5 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466404	NM_001288746.2(CMTM5):c.121G>A (p.Glu41Lys)	CMTM5 (E41K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788890	NM_001288746.2(CMTM5):c.129C>T (p.Ala43=)	CMTM5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2329456	NM_001288746.2(CMTM5):c.134C>A (p.Thr45Asn)	CMTM5 (T45N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624319	NM_001288746.2(CMTM5):c.142A>C (p.Ile48Leu)	CMTM5 (I48L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146266	NM_001288746.2(CMTM5):c.155T>C (p.Phe52Ser)	CMTM5 (F52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459000	NM_001288746.2(CMTM5):c.188C>T (p.Ala63Val)	CMTM5 (A63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146267	NM_001288746.2(CMTM5):c.221T>A (p.Leu74His)	CMTM5 (L74H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788891	NM_001288746.2(CMTM5):c.222C>G (p.Leu74=)	CMTM5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2248879	NM_001288746.2(CMTM5):c.250C>T (p.Arg84Cys)	CMTM5 (R84C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146268	NM_001288746.2(CMTM5):c.260G>A (p.Arg87Gln)	CMTM5 (R87Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146269	NM_001288746.2(CMTM5):c.485T>A (p.Phe162Tyr)	CMTM5 (F162Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146270	NM_001288746.2(CMTM5):c.490C>T (p.Arg164Cys)	CMTM5 (R164C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146271	NM_001288746.2(CMTM5):c.496G>A (p.Val166Ile)	CMTM5 (V166I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214174	NM_001288746.2(CMTM5):c.499A>T (p.Ser167Cys)	CMTM5 (S100C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146272	NM_001288746.2(CMTM5):c.508A>G (p.Ile170Val)	CMTM5 (I103V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146273	NM_001288746.2(CMTM5):c.511A>G (p.Ile171Val)	CMTM5 (I104V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372958	NM_001288746.2(CMTM5):c.547C>T (p.Arg183Trp)	CMTM5 (R65W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146274	NM_001288746.2(CMTM5):c.548G>A (p.Arg183Gln)	CMTM5 (R116Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318691	NM_001288746.2(CMTM5):c.649G>A (p.Ala217Thr)	CMTM5 (A68T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2424248	NC_000014.8:g.(?_23586696)_(23902941_?)del	BCL2L2, BCL2L2-PABPN1 +14 more	Deletion	Specific granule deficiency	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	NGDN, OR10G2 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564100	GRCh37/hg19 14q11.2(chr14:23840034-24057640)x1	AP1G2, CMTM5 +9 more	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 44