"Invitae"[submitter] AND "TBX6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 658983	NC_000016.10:g.(?_30066878)_(30188984_?)del	LOC130058811, LOC130058812 +22 more	Deletion	Severe combined immunodeficiency due to CORO1A deficiency	GPathogenic
Select item 652956	NC_000016.9:g.(?_30078199)_(30200305_?)dup	LOC130058815, LOC130058816 +22 more	Duplication	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 541425	NC_000016.10:g.(?_30066878)_(30188596_?)del	LOC130058815, LOC130058816 +22 more	Deletion	Severe combined immunodeficiency due to CORO1A deficiency	GPathogenic
Select item 474494	NC_000016.9:g.(?_30078199)_(30199917_?)dup	LOC112694756, LOC121587541 +22 more	Duplication	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1354234	NM_004608.4(TBX6):c.1297A>C (p.Lys433Gln)	TBX6 (K433Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509939	NM_004608.4(TBX6):c.1291G>A (p.Gly431Ser)	TBX6 (G431S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015958	NM_004608.4(TBX6):c.1278C>A (p.Gly426=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2428389	NM_004608.4(TBX6):c.1276G>A (p.Gly426Ser)	TBX6 (G426S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722732	NM_004608.4(TBX6):c.1269G>A (p.Ala423=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1040034	NM_004608.4(TBX6):c.1268C>T (p.Ala423Val)	TBX6 (A423V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3000556	NM_004608.4(TBX6):c.1250_1251delinsAA (p.Phe417Ter)	TBX6 (F417*)	Indel (nonsense)	not provided	GUncertain significance
Select item 2196581	NM_004608.4(TBX6):c.1244G>T (p.Gly415Val)	TBX6 (G415V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721969	NM_004608.4(TBX6):c.1227G>C (p.Pro409=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 259448	NM_004608.4(TBX6):c.1227G>A (p.Pro409=)	TBX6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1025432	NM_004608.4(TBX6):c.1226C>T (p.Pro409Leu)	TBX6 (P409L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712757	NM_004608.4(TBX6):c.1212G>A (p.Ala404=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014748	NM_004608.4(TBX6):c.1211C>T (p.Ala404Val)	TBX6 (A404V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171319	NM_004608.4(TBX6):c.1209G>A (p.Pro403=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987436	NM_004608.4(TBX6):c.1206A>G (p.Pro402=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743868	NM_004608.4(TBX6):c.1203T>C (p.Ala401=)	TBX6	Single nucleotide variant (synonymous variant)	TBX6-related condition +1 more	GBenign/Likely benign
Select item 1944722	NM_004608.4(TBX6):c.1193A>C (p.Tyr398Ser)	TBX6 (Y398S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918659	NM_004608.4(TBX6):c.1191G>C (p.Gly397=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715917	NM_004608.4(TBX6):c.1188C>T (p.Ser396=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752140	NM_004608.4(TBX6):c.1184G>T (p.Gly395Val)	TBX6 (G395V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 694411	NM_004608.4(TBX6):c.1184G>A (p.Gly395Asp)	TBX6 (G395D)	Single nucleotide variant (missense variant)	Scoliosis +1 more	GUncertain significance
Select item 1979473	NM_004608.4(TBX6):c.1174G>A (p.Gly392Arg)	TBX6 (G392R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1124256	NM_004608.4(TBX6):c.1173C>T (p.His391=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992018	NM_004608.4(TBX6):c.1164G>A (p.Glu388=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972642	NM_004608.4(TBX6):c.1163A>C (p.Glu388Ala)	TBX6 (E388A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727599	NM_004608.4(TBX6):c.1149G>A (p.Ser383=)	TBX6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2020480	NM_004608.4(TBX6):c.1140C>T (p.Ala380=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694413	NM_004608.4(TBX6):c.1133G>A (p.Arg378His)	TBX6 (R378H)	Single nucleotide variant (missense variant)	Scoliosis +1 more	GConflicting classifications of pathogenicity
Select item 2811545	NM_004608.4(TBX6):c.1131G>T (p.Gly377=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909770	NM_004608.4(TBX6):c.1114G>A (p.Glu372Lys)	TBX6 (E372K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413468	NM_004608.4(TBX6):c.1113G>A (p.Pro371=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694410	NM_004608.4(TBX6):c.1112C>T (p.Pro371Leu)	TBX6 (P371L)	Single nucleotide variant (missense variant)	Scoliosis +1 more	GUncertain significance
Select item 797132	NM_004608.4(TBX6):c.1104C>T (p.Pro368=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960855	NM_004608.4(TBX6):c.1098G>A (p.Arg366=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1901011	NM_004608.4(TBX6):c.1098-11C>T	TBX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557548	NM_004608.4(TBX6):c.1098-20C>T	TBX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108603	NM_004608.4(TBX6):c.1097+18C>A	TBX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1577508	NM_004608.4(TBX6):c.1097+12_1097+13del	TBX6	Deletion (intron variant)	not provided	GLikely benign
Select item 1537492	NM_004608.4(TBX6):c.1097+12del	TBX6	Deletion (intron variant)	not provided	GLikely benign
Select item 1925877	NM_004608.4(TBX6):c.1096A>G (p.Arg366Gly)	TBX6 (R366G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437348	NM_004608.4(TBX6):c.1090C>T (p.Pro364Ser)	TBX6 (P364S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743654	NM_004608.4(TBX6):c.1062G>A (p.Ala354=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593382	NM_004608.4(TBX6):c.1061C>T (p.Ala354Val)	TBX6 (A354V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975972	NM_004608.4(TBX6):c.1056C>A (p.His352Gln)	TBX6 (H352Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645996	NM_004608.4(TBX6):c.1051C>T (p.Leu351=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1722091	NM_004608.4(TBX6):c.1048C>T (p.Leu350Phe)	TBX6 (L350F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802177	NM_004608.4(TBX6):c.1047C>T (p.Tyr349=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800699	NM_004608.4(TBX6):c.1040A>C (p.Glu347Ala)	TBX6 (E347A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409731	NM_004608.4(TBX6):c.1022G>A (p.Cys341Tyr)	TBX6 (C341Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590194	NM_004608.4(TBX6):c.1020G>T (p.Leu340=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901510	NM_004608.4(TBX6):c.1018C>G (p.Leu340Val)	TBX6 (L340V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408358	NM_004608.4(TBX6):c.1015C>A (p.Pro339Thr)	TBX6 (P339T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1148684	NM_004608.4(TBX6):c.1011G>A (p.Pro337=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717784	NM_004608.4(TBX6):c.1010C>T (p.Pro337Leu)	TBX6 (P337L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2790573	NM_004608.4(TBX6):c.1008C>T (p.Ala336=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955126	NM_004608.4(TBX6):c.1004C>A (p.Ala335Asp)	TBX6 (A335D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018802	NM_004608.4(TBX6):c.1003G>A (p.Ala335Thr)	TBX6 (A335T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496788	NM_004608.4(TBX6):c.998C>A (p.Ala333Asp)	TBX6 (A333D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025491	NM_004608.4(TBX6):c.994dup (p.Glu332fs)	TBX6 (E332fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1913633	NM_004608.4(TBX6):c.990C>T (p.Pro330=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503155	NM_004608.4(TBX6):c.983C>T (p.Pro328Leu)	TBX6 (P328L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434383	NM_004608.4(TBX6):c.962A>G (p.Glu321Gly)	TBX6 (E321G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365454	NM_004608.4(TBX6):c.959G>T (p.Arg320Leu)	TBX6 (R320L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992124	NM_004608.4(TBX6):c.958C>A (p.Arg320Ser)	TBX6 (R320S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362510	NM_004608.4(TBX6):c.941C>T (p.Thr314Ile)	TBX6 (T314I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1555353	NM_004608.4(TBX6):c.936C>T (p.Asp312=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780567	NM_004608.4(TBX6):c.917C>G (p.Thr306Arg)	TBX6 (T306R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990541	NM_004608.4(TBX6):c.917C>T (p.Thr306Ile)	TBX6 (T306I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955484	NM_004608.4(TBX6):c.914-1G>A	TBX6	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1931252	NM_004608.4(TBX6):c.914-6C>A	TBX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 711597	NM_004608.4(TBX6):c.914-6C>T	TBX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2849243	NM_004608.4(TBX6):c.913+3G>A	TBX6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2917348	NM_004608.4(TBX6):c.910G>A (p.Gly304Arg)	TBX6 (G304R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751105	NM_004608.4(TBX6):c.909C>T (p.Ser303=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1636049	NM_004608.4(TBX6):c.903T>C (p.Tyr301=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886356	NM_004608.4(TBX6):c.879A>G (p.Pro293=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746820	NM_004608.4(TBX6):c.875G>T (p.Gly292Val)	TBX6 (G292V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977088	NM_004608.4(TBX6):c.872G>A (p.Arg291Gln)	TBX6 (R291Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726889	NM_004608.4(TBX6):c.867A>G (p.Lys289=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1672709	NM_004608.4(TBX6):c.864G>A (p.Arg288=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724666	NM_004608.4(TBX6):c.849C>T (p.Asp283=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585695	NM_004608.4(TBX6):c.840-12_840-10del	TBX6	Deletion (intron variant)	TBX6-related condition +1 more	GLikely benign
Select item 2799666	NM_004608.4(TBX6):c.840-19CAC[2]	TBX6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2977542	NM_004608.4(TBX6):c.840-13C>G	TBX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985529	NM_004608.4(TBX6):c.840-32TCA[6]	TBX6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1615180	NM_004608.4(TBX6):c.840-32TCA[3]	TBX6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 259450	NM_004608.4(TBX6):c.840-32TCA[4]	TBX6	Microsatellite (intron variant)	Spondylocostal dysostosis 5 +2 more	GBenign
Select item 1559048	NM_004608.4(TBX6):c.840-20T>C	TBX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1989827	NM_004608.4(TBX6):c.839+17_839+20del	TBX6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 743242	NM_004608.4(TBX6):c.822C>T (p.Asn274=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734843	NM_004608.4(TBX6):c.815G>A (p.Arg272Gln)	TBX6 (R272Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2840642	NM_004608.4(TBX6):c.778C>G (p.Leu260Val)	TBX6 (L260V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034757	NM_004608.4(TBX6):c.769dup (p.Ile257fs)	TBX6 (I257fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2779102	NM_004608.4(TBX6):c.769A>T (p.Ile257Phe)	TBX6 (I257F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791554	NM_004608.4(TBX6):c.769-16G>A	TBX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600338	NM_004608.4(TBX6):c.769-20C>T	TBX6	Single nucleotide variant (intron variant)	not provided	GBenign

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