TMEM87A[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151339	GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3	CAPN3, EHD4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 57437	GRCh38/hg38 15q15.1(chr15:41865122-42329484)x3	EHD4, EHD4-AS1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2244723	NM_015497.5(TMEM87A):c.1662G>A (p.Met554Ile)	TMEM87A, VPS39-DT (M554I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179681	NM_015497.5(TMEM87A):c.1636A>T (p.Ile546Phe)	TMEM87A, VPS39-DT (I546F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327200	NM_015497.5(TMEM87A):c.1565A>G (p.Glu522Gly)	TMEM87A, VPS39-DT (E461G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179680	NM_015497.5(TMEM87A):c.1514A>G (p.Asn505Ser)	TMEM87A, VPS39-DT (N505S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618595	NM_015497.5(TMEM87A):c.1469A>C (p.Glu490Ala)	TMEM87A, VPS39-DT (E429A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179679	NM_015497.5(TMEM87A):c.1337G>A (p.Arg446His)	TMEM87A, VPS39-DT (R385H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568728	NM_015497.5(TMEM87A):c.1007C>T (p.Ala336Val)	TMEM87A (A336V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540716	NM_015497.5(TMEM87A):c.998T>C (p.Val333Ala)	TMEM87A (V272A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320304	NM_015497.5(TMEM87A):c.985A>G (p.Thr329Ala)	TMEM87A (T268A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179690	NM_015497.5(TMEM87A):c.857A>G (p.Lys286Arg)	TMEM87A (K225R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179689	NM_015497.5(TMEM87A):c.853T>C (p.Tyr285His)	TMEM87A (Y285H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359611	NM_015497.5(TMEM87A):c.833C>T (p.Ala278Val)	TMEM87A (A217V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179688	NM_015497.5(TMEM87A):c.777G>C (p.Gln259His)	TMEM87A (Q198H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179687	NM_015497.5(TMEM87A):c.770G>T (p.Arg257Ile)	TMEM87A (R257I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179685	NM_015497.5(TMEM87A):c.611A>G (p.Asn204Ser)	TMEM87A (N204S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179683	NM_015497.5(TMEM87A):c.508A>G (p.Met170Val)	TMEM87A (M170V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206037	NM_015497.5(TMEM87A):c.413C>T (p.Ser138Phe)	TMEM87A (S77F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327201	NM_015497.5(TMEM87A):c.301G>A (p.Val101Ile)	TMEM87A (V101I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179682	NM_015497.5(TMEM87A):c.299A>T (p.Glu100Val)	TMEM87A (E39V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552398	NM_015497.5(TMEM87A):c.193A>G (p.Ile65Val)	TMEM87A (I65V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613855	NM_015497.5(TMEM87A):c.101T>C (p.Val34Ala)	GANC, LOC130056919 +1 more (V34A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3327202	NM_015497.5(TMEM87A):c.97A>G (p.Thr33Ala)	GANC, LOC130056919 +1 more (T33A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3327198	NM_015497.5(TMEM87A):c.67C>T (p.Pro23Ser)	GANC, LOC130056919 +1 more (P23S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3327199	NM_015497.5(TMEM87A):c.62C>T (p.Pro21Leu)	GANC, LOC130056919 +1 more (P21L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3179684	NM_015497.5(TMEM87A):c.58C>T (p.His20Tyr)	GANC, LOC130056919 +1 more (H20Y)	Single nucleotide variant (5 prime UTR variant +2 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 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	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

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Items: 36