TBXT[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	C6orf118, C6orf120 +321 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +299 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +297 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +277 more	Copy number loss	See cases	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +254 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	AFDN, AFDN-DT +247 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +243 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +224 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +203 more	Copy number loss	See cases	GPathogenic
Select item 151593	GRCh38/hg38 6q27(chr6:165631374-166361022)x3	LINC00473, LINC00602 +25 more	Copy number gain	See cases	GUncertain significance
Select item 151592	GRCh38/hg38 6q27(chr6:165631374-166405780)x3	LINC00473, LINC00602 +29 more	Copy number gain	See cases	GUncertain significance
Select item 3026652	NM_001366285.2(TBXT):c.1213GCGGCC[3] (p.Ala408_Thr409insAlaAla)	TBXT	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2466742	NM_001366285.2(TBXT):c.1219G>A (p.Ala407Thr)	TBXT (A406T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399813	NM_001366285.2(TBXT):c.1214C>A (p.Ala405Glu)	TBXT (A405E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295672	NM_001366285.2(TBXT):c.1201C>G (p.Leu401Val)	TBXT (L400V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218621	NM_001366285.2(TBXT):c.1190C>T (p.Ser397Leu)	TBXT (S396L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1241738	NM_001366285.2(TBXT):c.1179G>A (p.Ala393=)	TBXT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3173161	NM_001366285.2(TBXT):c.1169C>T (p.Pro390Leu)	TBXT (P331L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524044	NM_001366285.2(TBXT):c.1166A>G (p.His389Arg)	TBXT (H388R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038579	NM_001366285.2(TBXT):c.1110C>T (p.Asn370=)	TBXT	Single nucleotide variant (synonymous variant)	TBXT-related disorder	GLikely benign
Select item 3059077	NM_001366285.2(TBXT):c.1109A>G (p.Asn370Ser)	TBXT (N311S +2 more)	Single nucleotide variant (missense variant)	TBXT-related disorder	GBenign
Select item 776183	NM_001366285.2(TBXT):c.1102G>A (p.Val368Met)	TBXT (V367M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 450603	NM_001366285.2(TBXT):c.1102G>T (p.Val368Leu)	TBXT (V367L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3173160	NM_001366285.2(TBXT):c.1082C>T (p.Pro361Leu)	TBXT (P302L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034735	NM_001366285.2(TBXT):c.1068C>T (p.Asn356=)	TBXT	Single nucleotide variant (synonymous variant)	TBXT-related disorder	GLikely benign
Select item 8181	NM_001366285.2(TBXT):c.1037+79C>T	TBXT	Single nucleotide variant (intron variant)	Neural tube defects, susceptibility to	Grisk factor
Select item 3057549	NM_001366285.2(TBXT):c.1017C>A (p.Ala339=)	TBXT	Single nucleotide variant (synonymous variant)	TBXT-related disorder	GLikely benign
Select item 445576	NM_001366285.2(TBXT):c.1016C>T (p.Ala339Val)	TBXT (A338V +2 more)	Single nucleotide variant (missense variant)	TBXT-related disorder +1 more	GBenign/Likely benign
Select item 2370897	NM_001366285.2(TBXT):c.1003G>A (p.Val335Met)	TBXT (V334M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173165	NM_001366285.2(TBXT):c.938C>T (p.Ser313Phe)	TBXT (S313F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768118	NM_001366285.2(TBXT):c.908-8C>T	TBXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2271389	NM_001366285.2(TBXT):c.860G>A (p.Arg287Gln)	TBXT (R287Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350283	NM_001366285.2(TBXT):c.859C>T (p.Arg287Trp)	TBXT (R286W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301744	NM_001366285.2(TBXT):c.851G>A (p.Arg284Lys)	TBXT (R283K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173164	NM_001366285.2(TBXT):c.845C>G (p.Thr282Ser)	TBXT (T281S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1176844	NM_001366285.2(TBXT):c.816dup (p.Ser273fs)	TBXT (S272fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2264371	NM_001366285.2(TBXT):c.811C>T (p.Leu271Phe)	TBXT (L270F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546398	NM_001366285.2(TBXT):c.800G>A (p.Gly267Asp)	TBXT (G266D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397124	NM_001366285.2(TBXT):c.698C>G (p.Pro233Arg)	TBXT (P233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1275742	NM_001366285.2(TBXT):c.676C>T (p.His226Tyr)	TBXT (H226Y)	Single nucleotide variant (missense variant)	Neural tube defect	GUncertain significance
Select item 3045629	NM_001366285.2(TBXT):c.668G>A (p.Arg223Lys)	TBXT (R223K)	Single nucleotide variant (missense variant)	TBXT-related disorder	GUncertain significance
Select item 1334511	NM_001366285.2(TBXT):c.640G>T (p.Ala214Ser)	TBXT (A214S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3045824	NM_001366285.2(TBXT):c.606+8G>A	TBXT	Single nucleotide variant (intron variant)	TBXT-related disorder	GLikely benign
Select item 488957	NM_001366285.2(TBXT):c.571C>T (p.Gln191Ter)	TBXT (Q191*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2611466	NM_001366285.2(TBXT):c.537G>C (p.Gln179His)	TBXT (Q179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1242832	NM_001366285.2(TBXT):c.530G>A (p.Gly177Asp)	TBXT (G177D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 126564	NM_001366285.2(TBXT):c.512A>G (p.His171Arg)	TBXT (H171R)	Single nucleotide variant (missense variant)	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	GPathogenic
Select item 1030636	NM_001366285.2(TBXT):c.466G>T (p.Gly156Cys)	TBXT (G156C)	Single nucleotide variant (missense variant)	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	GUncertain significance
Select item 2322420	NM_001366285.2(TBXT):c.457A>C (p.Asn153His)	TBXT (N153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288190	NM_001366285.2(TBXT):c.419C>T (p.Pro140Leu)	TBXT (P140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1302242	NM_001366285.2(TBXT):c.363C>T (p.Ser121=)	TBXT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2543116	NM_001366285.2(TBXT):c.319G>C (p.Gly107Arg)	TBXT (G107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597446	NM_001366285.2(TBXT):c.290C>A (p.Ala97Glu)	TBXT (A97E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262043	NM_001366285.2(TBXT):c.202G>C (p.Gly68Arg)	TBXT (G68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291264	NM_001366285.2(TBXT):c.149A>C (p.Glu50Ala)	TBXT (E50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173163	NM_001366285.2(TBXT):c.144G>C (p.Glu48Asp)	TBXT (E48D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173162	NM_001366285.2(TBXT):c.124C>A (p.Leu42Met)	TBXT (L42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690227	NM_001366285.2(TBXT):c.118C>G (p.Arg40Gly)	TBXT (R40G)	Single nucleotide variant (missense variant)	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	GUncertain significance
Select item 2608375	NM_001366285.2(TBXT):c.76A>C (p.Asn26His)	TBXT (N26H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235331	NM_001366285.2(TBXT):c.66C>A (p.Ser22Arg)	TBXT (S22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	RNASET2, TBXT +33 more	Copy number loss	not provided	GPathogenic
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	AFDN, C6orf118 +31 more	Copy number loss	not provided	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527325	GRCh37/hg19 6q27(chr6:166414977-166705924)	LOC729681, TBXT	Copy number gain	not specified	GUncertain significance
Select item 1527324	GRCh37/hg19 6q27(chr6:165622608-166897295)	C6orf118, LOC729681 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 814897	GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1	GPR31, KIF25 +33 more	Copy number loss	not provided	GPathogenic
Select item 626287	Single allele	AFDN, C6orf118 +33 more	Deletion	not provided	GLikely pathogenic
Select item 625656	GRCh37/hg19 6q27(chr6:166517762-170919470)	AFDN, C6orf120 +26 more	Copy number loss	not provided	GPathogenic
Select item 563255	GRCh37/hg19 6q27(chr6:165190527-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	not provided	GPathogenic
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442494	GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 442252	GRCh37/hg19 6q27(chr6:166110423-170919482)x1	AFDN, C6orf120 +28 more	Copy number loss	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 394418	GRCh37/hg19 6q27(chr6:166571083-167265466)x1	MPC1, PRR18 +3 more	Copy number loss	See cases	GUncertain significance
Select item 394084	GRCh37/hg19 6q26-27(chr6:163731741-167090237)x1	C6orf118, LOC729681 +9 more	Copy number loss	See cases	GPathogenic
Select item 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 202226	GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3	DACT2, QKI +33 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 98