ClinVar for Gene (Select 6862) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324125	NM_001366285.2(TBXT):c.244C>G (p.Leu82Val)	TBXT (L82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324124	NM_001366285.2(TBXT):c.1178C>T (p.Ala393Val)	TBXT (A393V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 3057549	NM_001366285.2(TBXT):c.1017C>A (p.Ala339=)	TBXT	Single nucleotide variant (synonymous variant)	TBXT-related disorder	GLikely benign
Select item 3045824	NM_001366285.2(TBXT):c.606+8G>A	TBXT	Single nucleotide variant (intron variant)	TBXT-related disorder	GLikely benign
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 3038579	NM_001366285.2(TBXT):c.1110C>T (p.Asn370=)	TBXT	Single nucleotide variant (synonymous variant)	TBXT-related disorder	GLikely benign
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 3026652	NM_001366285.2(TBXT):c.1213GCGGCC[3] (p.Ala408_Thr409insAlaAla)	TBXT	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
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 2611466	NM_001366285.2(TBXT):c.537G>C (p.Gln179His)	TBXT (Q179H)	Single nucleotide variant (missense variant)	not specified	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 2597446	NM_001366285.2(TBXT):c.290C>A (p.Ala97Glu)	TBXT (A97E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	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 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 2543116	NM_001366285.2(TBXT):c.319G>C (p.Gly107Arg)	TBXT (G107R)	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 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 2397124	NM_001366285.2(TBXT):c.698C>G (p.Pro233Arg)	TBXT (P233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2322420	NM_001366285.2(TBXT):c.457A>C (p.Asn153His)	TBXT (N153H)	Single nucleotide variant (missense variant)	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 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 2291264	NM_001366285.2(TBXT):c.149A>C (p.Glu50Ala)	TBXT (E50A)	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 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 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 2262043	NM_001366285.2(TBXT):c.202G>C (p.Gly68Arg)	TBXT (G68R)	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 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 1334511	NM_001366285.2(TBXT):c.640G>T (p.Ala214Ser)	TBXT (A214S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302242	NM_001366285.2(TBXT):c.363C>T (p.Ser121=)	TBXT	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1242832	NM_001366285.2(TBXT):c.530G>A (p.Gly177Asp)	TBXT (G177D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1241738	NM_001366285.2(TBXT):c.1179G>A (p.Ala393=)	TBXT	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 776183	NM_001366285.2(TBXT):c.1102G>A (p.Val368Met)	TBXT (V367M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768118	NM_001366285.2(TBXT):c.908-8C>T	TBXT	Single nucleotide variant (intron variant)	not provided	GBenign
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 488957	NM_001366285.2(TBXT):c.571C>T (p.Gln191Ter)	TBXT (Q191*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 445576	NM_001366285.2(TBXT):c.1016C>T (p.Ala339Val)	TBXT (A338V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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 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 202226	GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3	DACT2, QKI +33 more	Copy number gain	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 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 +30 more	Copy number gain	See cases	GUncertain significance
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +204 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
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 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 8181	NM_001366285.2(TBXT):c.1037+79C>T	TBXT	Single nucleotide variant (intron variant)	Neural tube defects, susceptibility to	Grisk factor

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Links from Gene

Items: 100