ClinVar for Gene (Select 83857) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3180038	NM_001193451.2(TMTC1):c.917G>A (p.Arg306Gln)	TMTC1 (R198Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180036	NM_001193451.2(TMTC1):c.765G>T (p.Gln255His)	TMTC1 (Q147H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180035	NM_001193451.2(TMTC1):c.466A>G (p.Ile156Val)	TMTC1 (I156V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3180034	NM_001193451.2(TMTC1):c.2185G>A (p.Val729Met)	TMTC1 (V621M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180032	NM_001193451.2(TMTC1):c.2085C>A (p.Asn695Lys)	TMTC1 (N587K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180031	NM_001193451.2(TMTC1):c.1768T>C (p.Ser590Pro)	TMTC1 (S652P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180030	NM_001193451.2(TMTC1):c.1543C>T (p.Arg515Cys)	TMTC1 (R577C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180029	NM_001193451.2(TMTC1):c.122A>T (p.Tyr41Phe)	TMTC1 (Y41F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180028	NM_001193451.2(TMTC1):c.1186C>G (p.Pro396Ala)	TMTC1 (P396A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180027	NM_001193451.2(TMTC1):c.1087G>A (p.Val363Met)	TMTC1 (V363M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642810	NM_001193451.2(TMTC1):c.75G>A (p.Ala25=)	TMTC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642809	NM_001193451.2(TMTC1):c.546G>A (p.Ser182=)	TMTC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623892	NM_001193451.2(TMTC1):c.2300A>G (p.His767Arg)	TMTC1 (H767R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620197	NM_001193451.2(TMTC1):c.1445A>G (p.Asn482Ser)	TMTC1 (N482S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602343	NM_001193451.2(TMTC1):c.1790G>A (p.Arg597Gln)	TMTC1 (R489Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592573	NM_001193451.2(TMTC1):c.16T>C (p.Ser6Pro)	TMTC1 (S6P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569572	NM_001193451.2(TMTC1):c.223A>T (p.Thr75Ser)	TMTC1 (T75S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565399	NM_001193451.2(TMTC1):c.508G>A (p.Val170Met)	TMTC1 (V62M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548572	NM_001193451.2(TMTC1):c.831G>T (p.Gln277His)	TMTC1 (Q277H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541171	NM_001193451.2(TMTC1):c.31G>A (p.Gly11Ser)	TMTC1 (G11S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534687	NM_001193451.2(TMTC1):c.43A>G (p.Thr15Ala)	TMTC1 (T15A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2531506	NM_001193451.2(TMTC1):c.2416G>A (p.Asp806Asn)	TMTC1 (D868N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514982	NM_001193451.2(TMTC1):c.147C>G (p.Phe49Leu)	TMTC1 (F49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486485	NM_001193451.2(TMTC1):c.931A>G (p.Met311Val)	TMTC1 (M311V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484279	NM_001193451.2(TMTC1):c.967T>A (p.Phe323Ile)	TMTC1 (F215I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482719	NM_001193451.2(TMTC1):c.390G>A (p.Met130Ile)	TMTC1 (M130I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479758	NM_001193451.2(TMTC1):c.101C>T (p.Ala34Val)	TMTC1 (A34V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467941	NM_001193451.2(TMTC1):c.2195A>G (p.Gln732Arg)	TMTC1 (Q732R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455129	NM_001193451.2(TMTC1):c.913C>T (p.Pro305Ser)	TMTC1 (P305S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2405948	NM_001193451.2(TMTC1):c.86C>T (p.Ala29Val)	TMTC1 (A29V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398252	NM_001193451.2(TMTC1):c.2159G>A (p.Arg720His)	TMTC1 (R612H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378825	NM_001193451.2(TMTC1):c.589C>G (p.Pro197Ala)	TMTC1 (P197A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375669	NM_001193451.2(TMTC1):c.1487A>G (p.Gln496Arg)	TMTC1 (Q496R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369942	NM_001193451.2(TMTC1):c.754C>T (p.Arg252Cys)	TMTC1 (R144C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363074	NM_001193451.2(TMTC1):c.1226C>T (p.Ala409Val)	TMTC1 (A301V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350006	NM_001193451.2(TMTC1):c.1027A>G (p.Ile343Val)	TMTC1 (I343V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341927	NM_001193451.2(TMTC1):c.2035G>A (p.Val679Met)	TMTC1 (V679M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336891	NM_001193451.2(TMTC1):c.2299C>T (p.His767Tyr)	TMTC1 (H829Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335907	NM_001193451.2(TMTC1):c.1492C>T (p.Arg498Trp)	TMTC1 (R390W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330710	NM_001193451.2(TMTC1):c.1067C>G (p.Ala356Gly)	TMTC1 (A418G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328186	NM_001193451.2(TMTC1):c.877C>A (p.Pro293Thr)	TMTC1 (P185T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322072	NM_001193451.2(TMTC1):c.2530G>A (p.Ala844Thr)	TMTC1 (A736T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316290	NM_001193451.2(TMTC1):c.2023C>T (p.Arg675Cys)	TMTC1 (R675C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303905	NM_001193451.2(TMTC1):c.2120A>G (p.Gln707Arg)	TMTC1 (Q599R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301048	NM_001193451.2(TMTC1):c.745C>T (p.Leu249Phe)	TMTC1 (L141F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283623	NM_001193451.2(TMTC1):c.319A>G (p.Thr107Ala)	TMTC1 (T107A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277332	NM_001193451.2(TMTC1):c.893G>A (p.Ser298Asn)	TMTC1 (S190N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275687	NM_001193451.2(TMTC1):c.2227A>T (p.Ile743Phe)	TMTC1 (I743F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272506	NM_001193451.2(TMTC1):c.2348A>G (p.Lys783Arg)	TMTC1 (K675R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264577	NM_001193451.2(TMTC1):c.85G>C (p.Ala29Pro)	TMTC1 (A29P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261141	NM_001193451.2(TMTC1):c.662C>T (p.Thr221Ile)	TMTC1 (T221I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258525	NM_001193451.2(TMTC1):c.2263C>T (p.Arg755Cys)	TMTC1 (R647C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209760	NM_001193451.2(TMTC1):c.1505C>T (p.Ala502Val)	TMTC1 (A394V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207851	NM_001193451.2(TMTC1):c.256A>C (p.Asn86His)	TMTC1 (N86H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 979338	GRCh37/hg19 12p11.22(chr12:29808668-30069269)x1	TMTC1	Copy number loss	not provided	GUncertain significance
Select item 815517	GRCh37/hg19 12p11.22(chr12:29898898-30095144)x1	TMTC1	Copy number loss	not provided	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 785397	NM_001193451.2(TMTC1):c.1418+9A>G	TMTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 782547	NM_001193451.2(TMTC1):c.366C>T (p.His122=)	TMTC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730041	NM_001193451.2(TMTC1):c.1146G>A (p.Glu382=)	TMTC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563950	GRCh37/hg19 12p11.22(chr12:29496129-30000274)x1	OVCH1, ERGIC2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563895	GRCh37/hg19 12p11.22(chr12:29773141-29840353)x1	TMTC1	Copy number loss	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 443854	GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3	ALG10, AMN1 +17 more	Copy number gain	See cases	GLikely pathogenic
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 442144	GRCh37/hg19 12p11.22-11.21(chr12:29532369-30711970)x3	ERGIC2, OVCH1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 394401	GRCh37/hg19 12p11.22(chr12:29829853-30013033)x3	TMTC1	Copy number gain	See cases	GLikely benign
Select item 393838	GRCh37/hg19 12p11.22(chr12:29056626-29766989)x0	FAR2, ERGIC2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 152935	GRCh38/hg38 12p11.22(chr12:29676920-29800305)x1	LOC126861492, TMTC1	Copy number loss	See cases	GUncertain significance
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 57098	GRCh38/hg38 12p11.22(chr12:29539481-30093276)x3	LOC126861492, LOC132090100 +1 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 94