TMCO5A[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 57878	GRCh38/hg38 15q14(chr15:34588015-39280404)x1	ACTC1, AQR +99 more	Copy number loss	See cases	GPathogenic
Select item 57226	GRCh38/hg38 15q14(chr15:34995451-39735062)x1	CDIN1, DPH6 +92 more	Copy number loss	See cases	GPathogenic
Select item 153984	GRCh38/hg38 15q14(chr15:36264417-38045964)x3	CDIN1, LINC02345 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2455362	NM_152453.4(TMCO5A):c.4G>A (p.Glu2Lys)	TMCO5A (E2K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509046	NM_152453.4(TMCO5A):c.166C>T (p.Arg56Trp)	TMCO5A (R70W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526579	NM_152453.4(TMCO5A):c.221G>T (p.Arg74Met)	TMCO5A (R88M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237528	NM_152453.4(TMCO5A):c.281C>T (p.Thr94Met)	TMCO5A (T94M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541732	NM_152453.4(TMCO5A):c.316C>A (p.Leu106Ile)	TMCO5A (L120I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295674	NM_152453.4(TMCO5A):c.400C>A (p.Gln134Lys)	TMCO5A (Q148K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304168	NM_152453.4(TMCO5A):c.409G>A (p.Ala137Thr)	TMCO5A (A151T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490823	NM_152453.4(TMCO5A):c.416A>C (p.Tyr139Ser)	TMCO5A (Y139S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178328	NM_152453.4(TMCO5A):c.466G>C (p.Val156Leu)	TMCO5A (V156L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178329	NM_152453.4(TMCO5A):c.467T>G (p.Val156Gly)	TMCO5A (V170G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383709	NM_152453.4(TMCO5A):c.518C>T (p.Thr173Met)	TMCO5A (T173M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335783	NM_152453.4(TMCO5A):c.547G>T (p.Ala183Ser)	TMCO5A (A197S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269674	NM_152453.4(TMCO5A):c.631A>T (p.Thr211Ser)	TMCO5A (T225S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178331	NM_152453.4(TMCO5A):c.637A>C (p.Thr213Pro)	TMCO5A (T227P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161814	NM_152453.4(TMCO5A):c.645G>C (p.Lys215Asn)	TMCO5A (K215N +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2257723	NM_152453.4(TMCO5A):c.790A>G (p.Arg264Gly)	TMCO5A (R278G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487625	NM_152453.4(TMCO5A):c.806A>G (p.Lys269Arg)	TMCO5A (K269R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546604	NM_152453.4(TMCO5A):c.821T>C (p.Phe274Ser)	TMCO5A (F288S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369498	NM_152453.4(TMCO5A):c.863A>G (p.His288Arg)	TMCO5A (H288R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063382	GRCh37/hg19 15q14(chr15:38113389-38563791)x3	SPRED1, TMCO5A	Copy number gain	not specified	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
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 3063372	GRCh37/hg19 15q14(chr15:34990168-39236311)x1	ACTC1, AQR +10 more	Copy number loss	not specified	GPathogenic
Select item 2684754	GRCh37/hg19 15q14(chr15:38088145-38570330)x3	SPRED1, TMCO5A	Copy number gain	not provided	GUncertain significance
Select item 1526443	GRCh37/hg19 15q14(chr15:37711704-38993669)	FAM98B, LINC02694 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	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 815702	GRCh37/hg19 15q14(chr15:34197488-38656254)x1	ACTC1, AQR +19 more	Copy number loss	not provided	GPathogenic
Select item 688522	GRCh37/hg19 15q14(chr15:37865227-38932551)x3	FAM98B, RASGRP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 564194	GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1	THBS1, EIF2AK4 +22 more	Copy number loss	not provided	GPathogenic
Select item 564193	GRCh37/hg19 15q14(chr15:38113557-38563791)x3	TMCO5A, SPRED1	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 395223	GRCh37/hg19 15q14(chr15:36905047-40037396)x4	CDIN1, FAM98B +8 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

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Items: 44