TMEM184C[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 153740	GRCh38/hg38 4q31.22-31.23(chr4:147172571-147792924)x3	ARHGAP10, EDNRA +19 more	Copy number gain	See cases	GUncertain significance
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146056	GRCh38/hg38 4q31.22-31.23(chr4:147396786-147788662)x3	ARHGAP10, EDNRA +17 more	Copy number gain	See cases	GUncertain significance
Select item 1707449	Single allele	ARHGAP10, EDNRA +21 more	Duplication	not specified	GUncertain significance
Select item 145601	GRCh38/hg38 4q31.23(chr4:147598674-147996432)x3	ARHGAP10, LOC126807184 +15 more	Copy number gain	See cases	GLikely benign
Select item 3179046	NM_018241.3(TMEM184C):c.34C>G (p.Gln12Glu)	TMEM184C (Q12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247250	NM_018241.3(TMEM184C):c.89T>C (p.Val30Ala)	TMEM184C (V30A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326889	NM_018241.3(TMEM184C):c.217C>A (p.His73Asn)	TMEM184C (H73N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479638	NM_018241.3(TMEM184C):c.290G>A (p.Ser97Asn)	TMEM184C (S97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228211	NM_018241.3(TMEM184C):c.313G>A (p.Gly105Arg)	TMEM184C (G105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516407	NM_018241.3(TMEM184C):c.407G>A (p.Arg136Gln)	TMEM184C (R136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233732	NM_018241.3(TMEM184C):c.421G>A (p.Val141Ile)	TMEM184C (V141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239489	NM_018241.3(TMEM184C):c.460C>T (p.Pro154Ser)	TMEM184C (P154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286407	NM_018241.3(TMEM184C):c.491T>C (p.Met164Thr)	TMEM184C (M164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252765	NM_018241.3(TMEM184C):c.565G>A (p.Val189Ile)	TMEM184C (V189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459088	NM_018241.3(TMEM184C):c.833A>G (p.His278Arg)	TMEM184C (H278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288059	NM_018241.3(TMEM184C):c.860C>G (p.Ala287Gly)	TMEM184C (A287G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515509	NM_018241.3(TMEM184C):c.1174C>T (p.Pro392Ser)	TMEM184C (P392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383657	NM_018241.3(TMEM184C):c.1243A>G (p.Lys415Glu)	TMEM184C (K415E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062798	GRCh37/hg19 4q31.22-31.23(chr4:148012359-149767130)x3	ARHGAP10, EDNRA +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685993	GRCh37/hg19 4q31.22-31.23(chr4:148093724-148665652)x3	ARHGAP10, EDNRA +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1704233	NC_000004.11:g.148550590_148578202dup	TMEM184C, PRMT9	Duplication	Neurodevelopmental abnormality	GUncertain significance
Select item 1527129	GRCh37/hg19 4q31.22-31.23(chr4:148378902-148750802)	ARHGAP10, EDNRA +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527128	GRCh37/hg19 4q31.22-31.23(chr4:148011767-148800454)	ARHGAP10, EDNRA +2 more	Copy number gain	not specified	GUncertain significance
Select item 1455428	NC_000004.11:g.(?_146560292)_(149358012_?)del	ARHGAP10, C4orf51 +10 more	Deletion	Methylmalonic aciduria, cblA type	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980696	GRCh37/hg19 4q31.22-31.23(chr4:147148581-149042791)x3	EDNRA, PRMT9 +6 more	Copy number gain	not provided	GUncertain significance
Select item 813886	GRCh37/hg19 4q31.22-31.23(chr4:148317938-148933250)x3	ARHGAP10, EDNRA +2 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687334	GRCh37/hg19 4q31.21-31.23(chr4:146118793-150492144)x1	ARHGAP10, C4orf51 +11 more	Copy number loss	not provided	GPathogenic
Select item 562973	GRCh37/hg19 4q31.22-31.23(chr4:148313009-148950412)x3	PRMT9, ARHGAP10 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 52