ClinVar for Gene (Select 80021) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327143	NM_024956.4(TMEM62):c.4G>C (p.Ala2Pro)	LOC130056938, TMEM62 (A2P)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3327142	NM_024956.4(TMEM62):c.1136C>G (p.Pro379Arg)	TMEM62 (P160R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327141	NM_024956.4(TMEM62):c.937G>C (p.Val313Leu)	TMEM62 (V181L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327140	NM_024956.4(TMEM62):c.1889T>C (p.Phe630Ser)	TMEM62 (F387S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327139	NM_024956.4(TMEM62):c.1817C>G (p.Pro606Arg)	TMEM62 (P401R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179572	NM_024956.4(TMEM62):c.69G>C (p.Leu23Phe)	LOC130056938, TMEM62 (L23F)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3179571	NM_024956.4(TMEM62):c.367G>A (p.Gly123Ser)	TMEM62 (G123S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3179570	NM_024956.4(TMEM62):c.23G>A (p.Arg8Lys)	LOC130056938, TMEM62 (R8K)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3179569	NM_024956.4(TMEM62):c.211G>C (p.Asp71His)	TMEM62 (D71H)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3179568	NM_024956.4(TMEM62):c.1832T>C (p.Leu611Ser)	TMEM62 (L357S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179567	NM_024956.4(TMEM62):c.1792G>T (p.Gly598Cys)	TMEM62 (G393C +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179566	NM_024956.4(TMEM62):c.1663T>A (p.Cys555Ser)	TMEM62 (C350S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179565	NM_024956.4(TMEM62):c.1588A>G (p.Ile530Val)	TMEM62 (I441V +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3179564	NM_024956.4(TMEM62):c.1487G>T (p.Gly496Val)	TMEM62 (G291V +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179563	NM_024956.4(TMEM62):c.1236T>G (p.Asn412Lys)	TMEM62 (N280K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179562	NM_024956.4(TMEM62):c.1202A>T (p.Lys401Met)	TMEM62 (K193M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2685511	GRCh37/hg19 15q15.2(chr15:43420602-43573814)x1	CCNDBP1, EPB42 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2609617	NM_024956.4(TMEM62):c.688C>G (p.His230Asp)	TMEM62 (H25D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560963	NM_024956.4(TMEM62):c.771T>A (p.His257Gln)	TMEM62 (H125Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546289	NM_024956.4(TMEM62):c.1888T>A (p.Phe630Ile)	TMEM62 (F465I +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541031	NM_024956.4(TMEM62):c.1183G>A (p.Asp395Asn)	TMEM62 (D187N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523511	NM_024956.4(TMEM62):c.1289A>G (p.Tyr430Cys)	TMEM62 (Y225C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2493280	NM_024956.4(TMEM62):c.1579A>T (p.Ile527Leu)	TMEM62 (I284L +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2466926	NM_024956.4(TMEM62):c.784G>A (p.Gly262Ser)	TMEM62 (G57S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409643	NM_024956.4(TMEM62):c.1337C>T (p.Thr446Ile)	TMEM62 (T446I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400723	NM_024956.4(TMEM62):c.275C>T (p.Ala92Val)	TMEM62 (A92V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2400050	NM_024956.4(TMEM62):c.1375C>T (p.Leu459Phe)	TMEM62 (L251F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394862	NM_024956.4(TMEM62):c.682T>C (p.Phe228Leu)	TMEM62 (F98L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379109	NM_024956.4(TMEM62):c.148C>T (p.Pro50Ser)	LOC130056938, TMEM62 (P50S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2378686	NM_024956.4(TMEM62):c.1361G>A (p.Arg454Gln)	TMEM62 (R235Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369554	NM_024956.4(TMEM62):c.1001T>C (p.Leu334Pro)	TMEM62 (L129P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353037	NM_024956.4(TMEM62):c.566C>T (p.Thr189Ile)	TMEM62 (T189I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345540	NM_024956.4(TMEM62):c.1208T>C (p.Val403Ala)	TMEM62 (V198A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2343719	NM_024956.4(TMEM62):c.464A>G (p.Lys155Arg)	TMEM62 (K25R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2315349	NM_024956.4(TMEM62):c.1864G>A (p.Val622Met)	TMEM62 (V368M +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251412	NM_024956.4(TMEM62):c.1306C>T (p.Leu436Phe)	TMEM62 (L228F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247251	NM_024956.4(TMEM62):c.104T>C (p.Leu35Pro)	LOC130056938, TMEM62 (L35P)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 1526448	GRCh37/hg19 15q15.2-15.3(chr15:43268878-43744411)	ADAL, CCNDBP1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980033	GRCh37/hg19 15q15.2-15.3(chr15:43135272-43744542)x1	TGM7, TP53BP1 +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 815709	GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3	TGM5, PDIA3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 815707	GRCh37/hg19 15q15.2-15.3(chr15:43017718-43685171)x3	EPB42, TGM5 +10 more	Copy number gain	not provided	GUncertain significance
Select item 688815	GRCh37/hg19 15q15.2-15.3(chr15:43062580-43744411)x1	ADAL, CCNDBP1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 687806	GRCh37/hg19 15q15.2-15.3(chr15:43062580-43737484)x1	ADAL, CCNDBP1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 687568	GRCh37/hg19 15q15.2-15.3(chr15:43277078-43634358)x3	ADAL, CCNDBP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687483	GRCh37/hg19 15q15.2-15.3(chr15:43118272-43668969)x3	ADAL, CCNDBP1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 154069	GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1	ADAL, CCNDBP1 +18 more	Copy number loss	See cases	GPathogenic
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 58