ClinVar for Gene (Select 6911) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 536

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383213	NM_004608.4(TBX6):c.989_990dup (p.Gly331fs)	TBX6 (G331fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 5	GLikely pathogenic
Select item 3377756	NM_004608.4(TBX6):c.581G>A (p.Arg194His)	TBX6 (R194H)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 5	GUncertain significance
Select item 3339290	NM_004608.4(TBX6):c.990del (p.Glu332fs)	TBX6 (E332fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 5	GPathogenic
Select item 3339236	NM_004608.4(TBX6):c.1288G>A (p.Val430Met)	TBX6 (V430M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324890	NM_004608.4(TBX6):c.133A>G (p.Lys45Glu)	TBX6 (K45E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324889	NM_004608.4(TBX6):c.134A>C (p.Lys45Thr)	TBX6 (K45T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3242085	NM_004608.4(TBX6):c.448C>T (p.Arg150Cys)	TBX6 (R150C)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 5	GUncertain significance
Select item 3174986	NM_004608.4(TBX6):c.961G>C (p.Glu321Gln)	TBX6 (E321Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174984	NM_004608.4(TBX6):c.703G>A (p.Gly235Ser)	TBX6 (G235S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174983	NM_004608.4(TBX6):c.368C>T (p.Ala123Val)	TBX6 (A123V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174982	NM_004608.4(TBX6):c.14G>A (p.Arg5Gln)	TBX6 (R5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148952	GRCh37/hg19 16p11.2(chr16:29428532-30190029)x1	ALDOA, ASPHD1 +27 more	Copy number loss	See cases	GPathogenic
Select item 3148938	GRCh37/hg19 16p11.2(chr16:29580021-30190029)x3	ALDOA, ASPHD1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 3148921	GRCh37/hg19 16p11.2(chr16:29591327-30190029)x1	ALDOA, ASPHD1 +24 more	Copy number loss	See cases	GPathogenic
Select item 3148854	GRCh37/hg19 16p11.2(chr16:29412503-30190029)x3	ALDOA, ASPHD1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 3063436	GRCh37/hg19 16p11.2(chr16:29427215-30177240)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3063430	GRCh37/hg19 16p11.2(chr16:29383808-30191848)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3063416	GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062345	GRCh38/hg38 16p11.2(chr16:29642391-30204353)	LOC121587541, LOC121847976 +105 more	Copy number loss	Epilepsy syndrome	GPathogenic, low penetrance
Select item 3062294	NM_004608.4(TBX6):c.1309T>C (p.Ter437Arg)	TBX6	Single nucleotide variant (stop lost)	Spondylocostal dysostosis 5	GLikely pathogenic
Select item 3032399	NM_004608.4(TBX6):c.1083del (p.His362fs)	TBX6 (H362fs)	Deletion (frameshift variant)	TBX6-related disorder	GLikely pathogenic
Select item 3027069	NM_004608.4(TBX6):c.117del (p.Glu40fs)	TBX6 (E40fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3024604	GRCh37/hg19 16p11.2(chr16:29495010-30200397)x1	MVP, PAGR1 +25 more	Copy number loss	not provided	GPathogenic
Select item 3024603	GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1	TAOK2, TBX6 +29 more	Copy number loss	not provided	GPathogenic
Select item 3024180	GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1	LOC130058763, LOC130058764 +107 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 3023240	NM_004608.4(TBX6):c.91G>A (p.Ala31Thr)	TBX6 (A31T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020494	NM_004608.4(TBX6):c.617_621+12del	TBX6	Deletion (splice donor 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 3018269	NM_004608.4(TBX6):c.406C>T (p.Arg136Cys)	TBX6 (R136C)	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 3014748	NM_004608.4(TBX6):c.1211C>T (p.Ala404Val)	TBX6 (A404V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004181	NM_004608.4(TBX6):c.355C>T (p.Arg119Cys)	TBX6 (R119C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000556	NM_004608.4(TBX6):c.1250_1251delinsAA (p.Phe417Ter)	TBX6 (F417*)	Indel (nonsense)	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 2978125	NM_004608.4(TBX6):c.466C>G (p.Arg156Gly)	TBX6 (R156G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977542	NM_004608.4(TBX6):c.840-13C>G	TBX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2965938	NM_004608.4(TBX6):c.552T>C (p.His184=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963222	NM_004608.4(TBX6):c.72C>T (p.Ala24=)	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 2958617	NM_004608.4(TBX6):c.615C>T (p.His205=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917983	NM_004608.4(TBX6):c.34G>C (p.Gly12Arg)	TBX6 (G12R)	Single nucleotide variant (missense 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 2901510	NM_004608.4(TBX6):c.1018C>G (p.Leu340Val)	TBX6 (L340V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2897035	NM_004608.4(TBX6):c.114C>T (p.Tyr38=)	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 2869520	NM_004608.4(TBX6):c.5A>G (p.Tyr2Cys)	TBX6 (Y2C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869493	NM_004608.4(TBX6):c.268G>C (p.Gly90Arg)	TBX6 (G90R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868694	NM_004608.4(TBX6):c.621+17G>A	TBX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868410	NM_004608.4(TBX6):c.696C>G (p.His232Gln)	TBX6 (H232Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857624	NM_004608.4(TBX6):c.606G>A (p.Leu202=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849243	NM_004608.4(TBX6):c.913+3G>A	TBX6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2827418	NM_004608.4(TBX6):c.1A>G (p.Met1Val)	TBX6 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2814793	NM_004608.4(TBX6):c.26C>A (p.Pro9Gln)	TBX6 (P9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811545	NM_004608.4(TBX6):c.1131G>T (p.Gly377=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2799666	NM_004608.4(TBX6):c.840-19CAC[2]	TBX6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2791554	NM_004608.4(TBX6):c.769-16G>A	TBX6	Single nucleotide variant (intron variant)	not provided	GLikely 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 2780567	NM_004608.4(TBX6):c.917C>G (p.Thr306Arg)	TBX6 (T306R)	Single nucleotide variant (missense 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 2777973	NM_004608.4(TBX6):c.514G>A (p.Val172Ile)	TBX6 (V172I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762580	NM_004608.4(TBX6):c.590T>A (p.Leu197His)	TBX6 (L197H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757907	NM_004608.4(TBX6):c.467G>C (p.Arg156Pro)	TBX6 (R156P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753070	NM_004608.4(TBX6):c.189C>T (p.His63=)	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 2746820	NM_004608.4(TBX6):c.875G>T (p.Gly292Val)	TBX6 (G292V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740198	NM_004608.4(TBX6):c.431T>C (p.Ile144Thr)	TBX6 (I144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732123	NM_004608.4(TBX6):c.212C>G (p.Pro71Arg)	TBX6 (P71R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722913	NM_004608.4(TBX6):c.435G>A (p.Pro145=)	TBX6	Single nucleotide variant (synonymous 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 2712757	NM_004608.4(TBX6):c.1212G>A (p.Ala404=)	TBX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685573	GRCh37/hg19 16p11.2(chr16:29589674-30226930)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685572	GRCh37/hg19 16p11.2(chr16:29517698-30191848)x1	ALDOA, ASPHD1 +24 more	Copy number loss	not provided	GPathogenic
Select item 2685571	GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2685568	GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2684804	GRCh37/hg19 16p11.2(chr16:29654589-30177240)x3	ALDOA, ASPHD1 +24 more	Copy number gain	not provided	GPathogenic
Select item 2684803	GRCh37/hg19 16p11.2(chr16:29597823-30321320)x3	ALDOA, ASPHD1 +28 more	Copy number gain	not provided	GPathogenic
Select item 2672674	GRCh37/hg19 16p11.2(chr16:29495010-30212427)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2671579	Single allele	ALDOA, ASPHD1 +25 more	Duplication	not provided	GPathogenic
Select item 2646379	NM_004608.4(TBX6):c.958C>G (p.Arg320Gly)	TBX6 (R320G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633386	NM_004608.4(TBX6):c.370del (p.Cys124fs)	TBX6 (C124fs)	Deletion (frameshift variant)	TBX6-related disorder	GLikely pathogenic
Select item 2630865	NM_004608.4(TBX6):c.118+2T>C	TBX6	Single nucleotide variant (splice donor variant)	TBX6-related disorder	GUncertain significance
Select item 2628423	NM_004608.4(TBX6):c.834dup (p.Lys279Ter)	TBX6 (K279*)	Duplication (nonsense)	TBX6-related disorder	GLikely pathogenic
Select item 2619827	NM_004608.4(TBX6):c.632A>G (p.His211Arg)	TBX6 (H211R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595917	NM_004608.4(TBX6):c.560G>A (p.Arg187Gln)	TBX6 (R187Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2582950	GRCh37/hg19 16p11.2(chr16:29674568-30199897)x3	ALDOA, ASPHD1 +25 more	Copy number gain	not provided	GPathogenic
Select item 2580337	GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580331	GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580320	GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3	ALDOA, ASPHD1 +25 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580312	GRCh37/hg19 16p11.2(chr16:29511270-30243006)x1	ALDOA, ASPHD1 +28 more	Copy number loss	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 2580106	NM_004608.4(TBX6):c.1080del (p.Ser361fs)	TBX6 (S361fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2576522	GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2576015	NM_004608.4(TBX6):c.1112dup (p.Glu372fs)	TBX6 (E372fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2570962	GRCh37/hg19 16p11.2(chr16:29675050-30218384)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2547981	NM_004608.4(TBX6):c.1101C>G (p.Ser367Arg)	TBX6 (S367R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506560	GRCh37/hg19 16p11.2(chr16:29495011-30206548)	ALDOA, ASPHD1 +27 more	Copy number loss	Infantile convulsions and choreoathetosis	GPathogenic

<< First< Prev

Page of 6