ClinVar for Gene (Select 374403) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324595	NM_001369496.1(TBC1D10C):c.673G>T (p.Val225Leu)	TBC1D10C (V124L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3324594	NM_001369496.1(TBC1D10C):c.1069G>A (p.Ala357Thr)	TBC1D10C (A365T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324593	NM_001369496.1(TBC1D10C):c.111C>T (p.Ala37=)	TBC1D10C	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3324592	NM_001369496.1(TBC1D10C):c.16G>A (p.Gly6Arg)	TBC1D10C (G6R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3324591	NM_001369496.1(TBC1D10C):c.691C>T (p.Arg231Trp)	TBC1D10C (R130W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3324590	NM_001369496.1(TBC1D10C):c.1087C>T (p.Arg363Trp)	TBC1D10C (P298L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174434	NM_001369496.1(TBC1D10C):c.856C>T (p.Arg286Cys)	TBC1D10C (P184L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174433	NM_001369496.1(TBC1D10C):c.717G>T (p.Lys239Asn)	TBC1D10C (K239N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174432	NM_001369496.1(TBC1D10C):c.650A>T (p.Glu217Val)	TBC1D10C (E225V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174431	NM_001369496.1(TBC1D10C):c.466G>A (p.Gly156Arg)	TBC1D10C (R56Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174430	NM_001369496.1(TBC1D10C):c.35C>T (p.Pro12Leu)	TBC1D10C (P12L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174428	NM_001369496.1(TBC1D10C):c.238C>T (p.Arg80Trp)	LOC130006193, TBC1D10C (R80W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174427	NM_001369496.1(TBC1D10C):c.215C>T (p.Ser72Leu)	LOC130006193, TBC1D10C (S72L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3174426	NM_001369496.1(TBC1D10C):c.1270C>T (p.Arg424Trp)	TBC1D10C (R424W +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3174425	NM_001369496.1(TBC1D10C):c.1217G>C (p.Arg406Pro)	TBC1D10C (R305P +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3174423	NM_001369496.1(TBC1D10C):c.1151G>A (p.Arg384Gln)	TBC1D10C (R283Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3174422	NM_001369496.1(TBC1D10C):c.1073C>T (p.Pro358Leu)	TBC1D10C (P257L +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3174421	NM_001369496.1(TBC1D10C):c.1070C>T (p.Ala357Val)	TBC1D10C (A365V +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3174420	NM_001369496.1(TBC1D10C):c.1063G>A (p.Asp355Asn)	TBC1D10C (R253Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174419	NM_001369496.1(TBC1D10C):c.1027C>A (p.Gln343Lys)	TBC1D10C (Q242K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642015	NM_001369496.1(TBC1D10C):c.708C>T (p.His236=)	TBC1D10C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2642014	NM_001369496.1(TBC1D10C):c.168T>C (p.Pro56=)	LOC130006193, TBC1D10C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2614096	NM_001369496.1(TBC1D10C):c.1163A>G (p.Lys388Arg)	TBC1D10C (K396R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2599152	NM_001369496.1(TBC1D10C):c.187C>T (p.Arg63Trp)	LOC130006193, TBC1D10C (R63W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598984	NM_001369496.1(TBC1D10C):c.281C>T (p.Pro94Leu)	TBC1D10C (P94L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535672	NM_001369496.1(TBC1D10C):c.268C>T (p.Arg90Trp)	TBC1D10C (R90W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518141	NM_001369496.1(TBC1D10C):c.725A>G (p.Gln242Arg)	TBC1D10C (Q141R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517947	NM_001369496.1(TBC1D10C):c.241C>T (p.Arg81Trp)	LOC130006193, TBC1D10C (R81W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2485369	NM_001369496.1(TBC1D10C):c.104G>A (p.Arg35His)	TBC1D10C (R35H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484703	NM_001369496.1(TBC1D10C):c.239G>A (p.Arg80Gln)	LOC130006193, TBC1D10C (R80Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463891	NM_001369496.1(TBC1D10C):c.1030C>T (p.Arg344Trp)	TBC1D10C (A279V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2403023	NM_001369496.1(TBC1D10C):c.785G>A (p.Arg262His)	TBC1D10C (R161H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389198	NM_001369496.1(TBC1D10C):c.1255C>T (p.Leu419Phe)	TBC1D10C (L318F +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2384778	NM_001369496.1(TBC1D10C):c.973G>A (p.Glu325Lys)	TBC1D10C (G260E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362570	NM_001369496.1(TBC1D10C):c.1031G>A (p.Arg344Gln)	TBC1D10C (R243Q +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2361706	NM_001369496.1(TBC1D10C):c.1108G>A (p.Gly370Arg)	TBC1D10C (G269R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321245	NM_001369496.1(TBC1D10C):c.1151G>C (p.Arg384Pro)	TBC1D10C (R392P +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2317938	NM_001369496.1(TBC1D10C):c.958C>T (p.Pro320Ser)	TBC1D10C (P328S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315037	NM_001369496.1(TBC1D10C):c.857G>A (p.Arg286His)	TBC1D10C (R185H +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2309667	NM_001369496.1(TBC1D10C):c.73G>A (p.Asp25Asn)	TBC1D10C (D25N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245152	NM_001369496.1(TBC1D10C):c.736G>A (p.Val246Ile)	TBC1D10C (V246I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224101	NM_001369496.1(TBC1D10C):c.73G>T (p.Asp25Tyr)	TBC1D10C (D25Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210312	NM_001369496.1(TBC1D10C):c.878G>A (p.Arg293His)	TBC1D10C (R293H +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 563826	GRCh37/hg19 11q13.2(chr11:67161003-67349899)x1	TBC1D10C, GPR152 +12 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 395118	GRCh37/hg19 11q13.2(chr11:67160949-67192950)x1	CARNS1, PPP1CA +2 more	Copy number loss	See cases	GLikely benign
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	LOC130006216, LOC130006217 +54 more	Copy number loss	See cases	GBenign
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 61