TBX10[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
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 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	LOC130006216, LOC130006217 +54 more	Copy number loss	See cases	GBenign
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 144730	GRCh38/hg38 11q13.2(chr11:67590733-67806931)x3	ACY3, ALDH3B2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 57210	GRCh38/hg38 11q13.2(chr11:67590733-67698250)x3	ACY3, ALDH3B2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 157206	NC_000011.10:g.67606198_67820541dup	LOC130006221, LOC130006222 +21 more	Duplication	Normal pregnancy	Gnot provided
Select item 3056990	NM_005995.5(TBX10):c.1152C>A (p.Ser384=)	TBX10	Single nucleotide variant (synonymous variant)	TBX10-related disorder	GLikely benign
Select item 3050470	NM_005995.5(TBX10):c.1143C>T (p.Gly381=)	TBX10	Single nucleotide variant (synonymous variant)	TBX10-related disorder	GLikely benign
Select item 3035799	NM_005995.5(TBX10):c.1102C>T (p.Leu368=)	TBX10	Single nucleotide variant (synonymous variant)	TBX10-related disorder	GLikely benign
Select item 3049649	NM_005995.5(TBX10):c.1055A>C (p.Asn352Thr)	TBX10 (N352T)	Single nucleotide variant (missense variant)	TBX10-related disorder	GBenign
Select item 3324845	NM_005995.5(TBX10):c.1039C>A (p.Pro347Thr)	TBX10 (P347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405729	NM_005995.5(TBX10):c.1025G>A (p.Arg342Lys)	TBX10 (R342K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598636	NM_005995.5(TBX10):c.938C>G (p.Pro313Arg)	TBX10 (P313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604694	NM_005995.5(TBX10):c.887C>T (p.Ala296Val)	TBX10 (A296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042490	NM_005995.5(TBX10):c.869-7C>T	TBX10	Single nucleotide variant (intron variant)	TBX10-related disorder	GLikely benign
Select item 2386613	NM_005995.5(TBX10):c.862G>A (p.Glu288Lys)	TBX10 (E288K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3040657	NM_005995.5(TBX10):c.858C>T (p.Asp286=)	TBX10	Single nucleotide variant (synonymous variant)	TBX10-related disorder	GLikely benign
Select item 3174929	NM_005995.5(TBX10):c.847G>T (p.Gly283Cys)	TBX10 (G283C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174928	NM_005995.5(TBX10):c.812G>A (p.Arg271Gln)	TBX10 (R271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330926	NM_005995.5(TBX10):c.746G>T (p.Gly249Val)	TBX10 (G249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486112	NM_005995.5(TBX10):c.732C>A (p.Asn244Lys)	TBX10 (N244K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355275	NM_005995.5(TBX10):c.724G>A (p.Ala242Thr)	TBX10 (A242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629934	NM_005995.5(TBX10):c.706-2A>G	TBX10	Single nucleotide variant (splice acceptor variant)	TBX10-related disorder	GUncertain significance
Select item 3324842	NM_005995.5(TBX10):c.649T>A (p.Ser217Thr)	TBX10 (S217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048037	NM_005995.5(TBX10):c.611G>A (p.Arg204His)	TBX10 (R204H)	Single nucleotide variant (missense variant)	TBX10-related disorder	GLikely benign
Select item 2210645	NM_005995.5(TBX10):c.584G>A (p.Arg195His)	TBX10 (R195H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174927	NM_005995.5(TBX10):c.572G>A (p.Arg191His)	TBX10 (R191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041436	NM_005995.5(TBX10):c.561C>T (p.Asn187=)	TBX10	Single nucleotide variant (synonymous variant)	TBX10-related disorder	GLikely benign
Select item 3357990	NM_005995.5(TBX10):c.549+9G>A	TBX10	Single nucleotide variant (intron variant)	TBX10-related disorder	GLikely benign
Select item 3058174	NM_005995.5(TBX10):c.549C>T (p.His183=)	TBX10	Single nucleotide variant (synonymous variant)	TBX10-related disorder	GLikely benign
Select item 2311206	NM_005995.5(TBX10):c.540C>G (p.Asp180Glu)	TBX10 (D180E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401594	NM_005995.5(TBX10):c.488G>A (p.Arg163His)	TBX10 (R163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036353	NM_005995.5(TBX10):c.487C>T (p.Arg163Cys)	TBX10 (R163C)	Single nucleotide variant (missense variant)	TBX10-related disorder	GLikely benign
Select item 2469364	NM_005995.5(TBX10):c.457G>A (p.Asp153Asn)	TBX10 (D153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622595	NM_005995.5(TBX10):c.442G>A (p.Val148Met)	TBX10 (V148M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596212	NM_005995.5(TBX10):c.334G>A (p.Ala112Thr)	TBX10 (A112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572977	NM_005995.5(TBX10):c.331T>A (p.Tyr111Asn)	TBX10 (Y111N)	Single nucleotide variant (missense variant)	Mendelian syndromes with cleft lip/palate +1 more	GConflicting classifications of pathogenicity
Select item 3324843	NM_005995.5(TBX10):c.328G>A (p.Asp110Asn)	TBX10 (D110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174926	NM_005995.5(TBX10):c.290C>T (p.Pro97Leu)	TBX10 (P97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524077	NM_005995.5(TBX10):c.289C>A (p.Pro97Thr)	TBX10 (P97T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389478	NM_005995.5(TBX10):c.283T>C (p.Phe95Leu)	TBX10 (F95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174925	NM_005995.5(TBX10):c.282G>T (p.Met94Ile)	TBX10 (M94I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357681	NM_005995.5(TBX10):c.269C>T (p.Ala90Val)	TBX10 (A90V)	Single nucleotide variant (missense variant)	TBX10-related disorder	GUncertain significance
Select item 2620617	NM_005995.5(TBX10):c.212T>C (p.Met71Thr)	TBX10 (M71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174923	NM_005995.5(TBX10):c.182G>A (p.Arg61His)	TBX10 (R61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517179	NM_005995.5(TBX10):c.181C>A (p.Arg61Ser)	TBX10 (R61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324844	NM_005995.5(TBX10):c.177C>A (p.Asn59Lys)	TBX10 (N59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313569	NM_005995.5(TBX10):c.139C>G (p.Gln47Glu)	TBX10 (Q47E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174922	NM_005995.5(TBX10):c.126C>G (p.Ser42Arg)	TBX10 (S42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484790	NM_005995.5(TBX10):c.101C>T (p.Pro34Leu)	TBX10 (P34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243814	NM_005995.5(TBX10):c.55C>G (p.Pro19Ala)	TBX10 (P19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059412	NM_005995.5(TBX10):c.8-10C>T	TBX10	Single nucleotide variant (intron variant)	TBX10-related disorder	GBenign
Select item 774627	NM_005995.5(TBX10):c.7+10G>A	TBX10	Single nucleotide variant (intron variant)	not provided	GBenign
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 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	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 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 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance

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Items: 67