TMED3[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 2614337	NM_007364.4(TMED3):c.14T>C (p.Val5Ala)	LOC130057714, TMED3 (V5A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2387551	NM_007364.4(TMED3):c.17C>T (p.Pro6Leu)	LOC130057714, TMED3 (P6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178349	NM_007364.4(TMED3):c.103G>C (p.Asp35His)	TMED3 (D35H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178350	NM_007364.4(TMED3):c.113A>T (p.Lys38Met)	TMED3 (K38M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645626	NM_007364.4(TMED3):c.168+1G>A	TMED3	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 3178351	NM_007364.4(TMED3):c.224A>T (p.Asn75Ile)	TMED3 (N75I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178352	NM_007364.4(TMED3):c.229A>G (p.Ile77Val)	TMED3 (I77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409526	NM_007364.4(TMED3):c.233A>G (p.Tyr78Cys)	TMED3 (Y78C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458066	NM_007364.4(TMED3):c.242C>T (p.Thr81Met)	TMED3 (T81M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033337	NM_007364.4(TMED3):c.272G>A (p.Arg91Gln)	TMED3 (R91Q)	Single nucleotide variant (missense variant +1 more)	TMED3-related disorder	GBenign
Select item 3052488	NM_007364.4(TMED3):c.333C>T (p.His111=)	TMED3	Single nucleotide variant (synonymous variant +1 more)	TMED3-related disorder	GLikely benign
Select item 3178353	NM_007364.4(TMED3):c.340G>A (p.Val114Ile)	TMED3 (V114I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304310	NM_007364.4(TMED3):c.359T>C (p.Val120Ala)	TMED3 (V120A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178354	NM_007364.4(TMED3):c.416A>G (p.Gln139Arg)	TMED3 (Q139R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287346	NM_007364.4(TMED3):c.427G>A (p.Ala143Thr)	TMED3 (A143T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618816	NM_007364.4(TMED3):c.434T>C (p.Val145Ala)	TMED3 (V145A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358149	NM_007364.4(TMED3):c.506G>T (p.Arg169Leu)	TMED3 (R169L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543695	NM_007364.4(TMED3):c.533G>T (p.Arg178Leu)	TMED3 (R178L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512284	NM_007364.4(TMED3):c.539C>T (p.Ser180Phe)	TMED3 (S180F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3326604	NM_007364.4(TMED3):c.560C>T (p.Thr187Met)	TMED3 (T187M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3054648	NM_007364.4(TMED3):c.*5G>A	TMED3	Single nucleotide variant (3 prime UTR variant +2 more)	TMED3-related disorder	GLikely benign
Select item 3052086	NM_001330376.2(TMED3):c.459C>T (p.Val153=)	MINAR1, TMED3	Single nucleotide variant (synonymous variant)	TMED3-related disorder	GLikely benign
Select item 3031394	NM_001330376.2(TMED3):c.492C>A (p.Thr164=)	MINAR1, TMED3	Single nucleotide variant (synonymous variant)	TMED3-related disorder	GLikely benign
Select item 3053767	NC_000015.10:g.79411508A>G	MINAR1, TMED3	Single nucleotide variant (3 prime UTR variant)	TMED3-related disorder	GLikely benign
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	ABHD17C, ADAMTS7 +19 more	Duplication	not provided	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	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 686584	GRCh37/hg19 15q25.1(chr15:79239511-79874885)x3	ANKRD34C, MINAR1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	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 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 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 44