TMEM253[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
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	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 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 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150080	GRCh38/hg38 14q11.2(chr14:21038933-21428431)x3	ARHGEF40, CHD8 +22 more	Copy number gain	See cases	GUncertain significance
Select item 58305	GRCh38/hg38 14q11.2(chr14:21058251-21384204)x3	ARHGEF40, HNRNPC +17 more	Copy number gain	See cases	GUncertain significance
Select item 2289097	NM_001395467.1(TMEM253):c.8A>G (p.Asp3Gly)	TMEM253, ZNF219 (D3G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2352252	NM_001395467.1(TMEM253):c.25G>C (p.Glu9Gln)	TMEM253, ZNF219 (E9Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2536788	NM_001395467.1(TMEM253):c.46C>T (p.Arg16Cys)	TMEM253, ZNF219 (R16C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2603178	NM_001395467.1(TMEM253):c.55A>G (p.Lys19Glu)	TMEM253, ZNF219 (K19E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2351667	NM_001395467.1(TMEM253):c.139G>A (p.Val47Met)	TMEM253, ZNF219 (V47M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3179298	NM_001395467.1(TMEM253):c.206G>T (p.Gly69Val)	TMEM253, ZNF219 (G69V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2223609	NM_001395467.1(TMEM253):c.238G>A (p.Val80Ile)	TMEM253, ZNF219 (V43I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3179299	NM_001395467.1(TMEM253):c.281G>A (p.Arg94Gln)	TMEM253, ZNF219 (R94Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2255727	NM_001395467.1(TMEM253):c.301A>T (p.Thr101Ser)	TMEM253, ZNF219 (T64S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373887	NM_001395467.1(TMEM253):c.318G>T (p.Leu106Phe)	TMEM253, ZNF219 (L106F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179300	NM_001395467.1(TMEM253):c.340G>A (p.Glu114Lys)	TMEM253, ZNF219 (E114K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266848	NM_001395467.1(TMEM253):c.373A>G (p.Thr125Ala)	TMEM253, ZNF219 (T88A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601468	NM_001395467.1(TMEM253):c.390T>A (p.His130Gln)	TMEM253, ZNF219 (H93Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179301	NM_001395467.1(TMEM253):c.430A>T (p.Thr144Ser)	TMEM253, ZNF219 (T107S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234712	NM_001395467.1(TMEM253):c.457C>T (p.His153Tyr)	TMEM253, ZNF219 (H116Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2548489	NM_001395467.1(TMEM253):c.484A>G (p.Lys162Glu)	TMEM253, ZNF219 (K125E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405442	NM_001395467.1(TMEM253):c.592A>C (p.Thr198Pro)	TMEM253, ZNF219 (T103P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179302	NM_001395467.1(TMEM253):c.604G>A (p.Glu202Lys)	TMEM253, ZNF219 (E165K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225547	NM_001395467.1(TMEM253):c.614G>A (p.Gly205Glu)	TMEM253, ZNF219 (G205E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516198	NM_001395467.1(TMEM253):c.616C>G (p.Gln206Glu)	TMEM253, ZNF219 (Q111E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3392143	GRCh37/hg19 14q11.2(chr14:21438504-22129883)x3	ARHGEF40, CHD8 +20 more	Copy number gain	not provided	GUncertain significance
Select item 3392142	GRCh37/hg19 14q11.2(chr14:20773391-21685066)x3	ANG, APEX1 +37 more	Copy number gain	not provided	GUncertain significance
Select item 3391854	GRCh37/hg19 14q11.2(chr14:20875269-23659582)x3	ABHD4, ACIN1 +64 more	Copy number gain	not provided	GPathogenic
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	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 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	METTL3, ANG +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 1809420	GRCh37/hg19 14q11.2(chr14:21496133-21962265)x3	ARHGEF40, CHD8 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1807993	GRCh37/hg19 14q11.2(chr14:21349608-21618292)x3	ARHGEF40, METTL17 +10 more	Copy number gain	not provided	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	AKAP6, CEBPE +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527802	GRCh37/hg19 14q11.2(chr14:21451544-21962317)	ARHGEF40, CHD8 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	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 815630	GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4	TOX4, ARHGEF40 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
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 689180	GRCh37/hg19 14q11.2(chr14:21490055-21962265)x3	ARHGEF40, CHD8 +13 more	Copy number gain	not provided	GUncertain significance
Select item 687290	GRCh37/hg19 14q11.2(chr14:21424506-21589630)x3	ARHGEF40, METTL17 +9 more	Copy number gain	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564121	GRCh37/hg19 14q11.2(chr14:21417035-21962317)x3	SUPT16H, TMEM253 +16 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +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 253921	GRCh37/hg19 14q11.2(chr14:21520503-21878421)x3	CHD8, ARHGEF40 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253894	GRCh37/hg19 14q11.2(chr14:20978713-21575128)x3	ANG, ARHGEF40 +25 more	Copy number gain	See cases	GUncertain significance
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 63