TMC5[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 2232149	NM_001261841.2(TMC5):c.423C>A (p.Ser141Arg)	TMC5 (S141R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298602	NM_001261841.2(TMC5):c.668C>T (p.Pro223Leu)	TMC5 (P223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310362	NM_001261841.2(TMC5):c.1080G>A (p.Met360Ile)	TMC5 (M114I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236559	NM_001261841.2(TMC5):c.1124C>T (p.Thr375Ile)	TMC5 (T129I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470070	NM_001261841.2(TMC5):c.1126A>G (p.Met376Val)	TMC5 (M376V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646275	NM_001261841.2(TMC5):c.1139G>A (p.Arg380Lys)	TMC5 (R134K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2310765	NM_001261841.2(TMC5):c.1293G>T (p.Trp431Cys)	TMC5 (W185C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305587	NM_001261841.2(TMC5):c.1301C>T (p.Thr434Met)	TMC5 (T434M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346875	NM_001261841.2(TMC5):c.1313T>C (p.Ile438Thr)	TMC5 (I192T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178240	NM_001261841.2(TMC5):c.1336G>A (p.Val446Ile)	TMC5 (V200I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515020	NM_001261841.2(TMC5):c.1432G>A (p.Val478Met)	TMC5 (V232M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278295	NM_001261841.2(TMC5):c.1443G>C (p.Lys481Asn)	TMC5 (K235N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540581	NM_001261841.2(TMC5):c.1505T>C (p.Val502Ala)	TMC5 (V502A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404175	NM_001261841.2(TMC5):c.1555G>A (p.Gly519Arg)	TMC5 (G519R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544346	NM_001261841.2(TMC5):c.1559C>T (p.Ala520Val)	TMC5 (A520V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178241	NM_001261841.2(TMC5):c.1597G>A (p.Gly533Arg)	TMC5 (G533R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250324	NM_001261841.2(TMC5):c.1641G>A (p.Met547Ile)	TMC5 (M301I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330521	NM_001261841.2(TMC5):c.1687G>A (p.Gly563Arg)	TMC5 (G563R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474775	NM_001261841.2(TMC5):c.1828A>G (p.Asn610Asp)	TMC5 (N364D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371925	NM_001261841.2(TMC5):c.1843C>T (p.Arg615Cys)	TMC5 (R369C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214424	NM_001261841.2(TMC5):c.1858A>G (p.Met620Val)	TMC5 (M620V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2509293	NM_001261841.2(TMC5):c.1865C>T (p.Ala622Val)	TMC5 (A376V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254065	NM_001261841.2(TMC5):c.1888G>T (p.Ala630Ser)	TMC5 (A384S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178242	NM_001261841.2(TMC5):c.1949C>A (p.Thr650Lys)	TMC5 (T650K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178243	NM_001261841.2(TMC5):c.1973T>C (p.Leu658Pro)	TMC5 (L412P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369941	NM_001261841.2(TMC5):c.2053G>A (p.Glu685Lys)	TMC5 (E633K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325023	NM_001261841.2(TMC5):c.2077G>C (p.Val693Leu)	TMC5 (V447L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265003	NM_001261841.2(TMC5):c.2117T>C (p.Ile706Thr)	TMC5 (I460T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178244	NM_001261841.2(TMC5):c.2149G>A (p.Val717Met)	TMC5 (V717M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280985	NM_001261841.2(TMC5):c.2215A>C (p.Met739Leu)	TMC5 (M687L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308711	NM_001261841.2(TMC5):c.2257T>C (p.Phe753Leu)	TMC5 (F507L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178245	NM_001261841.2(TMC5):c.2291C>G (p.Thr764Arg)	TMC5 (T518R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411711	NM_001261841.2(TMC5):c.2329G>A (p.Val777Ile)	TMC5 (V777I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589145	NM_001261841.2(TMC5):c.2449A>G (p.Met817Val)	TMC5 (M817V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178246	NM_001261841.2(TMC5):c.2465C>T (p.Pro822Leu)	TMC5 (P822L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269673	NM_001261841.2(TMC5):c.2483G>A (p.Arg828Gln)	TMC5 (R582Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482683	NM_001261841.2(TMC5):c.2531C>T (p.Ser844Phe)	TMC5 (S844F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178247	NM_001261841.2(TMC5):c.2555T>C (p.Leu852Pro)	TMC5 (L800P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225466	NM_001261841.2(TMC5):c.2561T>C (p.Ile854Thr)	TMC5 (I802T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178248	NM_001261841.2(TMC5):c.2564C>T (p.Thr855Ile)	TMC5 (T803I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328064	NM_001261841.2(TMC5):c.2609G>A (p.Gly870Asp)	TMC5 (G624D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459810	NM_001261841.2(TMC5):c.2695C>T (p.Arg899Trp)	TMC5 (R847W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520911	NM_001261841.2(TMC5):c.2705T>C (p.Ile902Thr)	TMC5 (I902T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355423	NM_001261841.2(TMC5):c.2764T>C (p.Tyr922His)	TMC5 (Y870H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178249	NM_001261841.2(TMC5):c.2838T>A (p.Asp946Glu)	TMC5 (D700E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495291	NM_001261841.2(TMC5):c.2868G>C (p.Lys956Asn)	TMC5 (K710N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684798	GRCh37/hg19 16p12.3(chr16:19046826-19831178)x3	CCP110, CLEC19A +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221512	GRCh37/hg19 16p12.3(chr16:19083339-19586433)x4	CCP110, CLEC19A +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 64