TGIF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 59612	GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1	ADCYAP1, AKAIN1 +161 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 152927	GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1	ZBTB14, ADCYAP1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	ADCYAP1, AKAIN1 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 151983	GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 150597	GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1	ADCYAP1, AKAIN1 +145 more	Copy number loss	See cases	GPathogenic
Select item 150126	GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1	ADCYAP1, AKAIN1 +184 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148659	GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1	ADCYAP1, CETN1 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 146636	GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3	ADCYAP1, CETN1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155594	GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 153999	GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1	ADCYAP1, CETN1 +114 more	Copy number loss	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	GPathogenic
Select item 146582	GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1	ADCYAP1, AKAIN1 +143 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154991	GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3	ADCYAP1, AKAIN1 +131 more	Copy number gain	See cases	GPathogenic
Select item 150684	GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1	ADCYAP1, AKAIN1 +127 more	Copy number loss	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	ADCYAP1, AKAIN1 +241 more	Copy number loss	See cases	GPathogenic
Select item 58747	GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3	ADCYAP1, CETN1 +113 more	Copy number gain	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	AKAIN1, ANKRD12 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 59917	GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1	LOC130062117, LOC130062118 +109 more	Copy number loss	See cases	GPathogenic
Select item 155584	GRCh38/hg38 18p11.31(chr18:3132909-3439461)x3	LINC01895, LOC112543419 +17 more	Copy number gain	See cases	GUncertain significance
Select item 151338	GRCh38/hg38 18p11.31(chr18:3344833-3447770)x3	LINC01895, LOC126862680 +1 more	Copy number gain	See cases	GUncertain significance
Select item 155041	GRCh38/hg38 18p11.31(chr18:3419283-3420817)x1	TGIF1	Copy number loss	See cases	GUncertain significance
Select item 1280491	NM_174886.3(TGIF1):c.-44-9000dup	TGIF1	Duplication (intron variant)	not provided	GBenign
Select item 1282084	NM_174886.3(TGIF1):c.-44-9000del	TGIF1	Deletion (intron variant)	not provided	GBenign
Select item 643155	NC_000018.10:g.(?_3447720)_(3457960_?)del	LOC130062108, LOC130062109 +3 more	Deletion	Holoprosencephaly 4	GPathogenic
Select item 58322	GRCh38/hg38 18p11.31(chr18:3447721-3451783)x1	LOC130062108, LOC130062109 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 675019	NM_003244.2(TGIF1):c.-2763C>T	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1204789	NM_173207.4(TGIF1):c.58+30C>G	TGIF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674961	NM_003244.2(TGIF1):c.-2617T>C	TGIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672771	NM_003244.2(TGIF1):c.-2527A>G	TGIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288921	NM_173207.4(TGIF1):c.58+284dup	TGIF1	Duplication (intron variant)	not provided	GBenign
Select item 1263319	NM_173207.4(TGIF1):c.58+278G>C	TGIF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3032359	NM_173207.4(TGIF1):c.58+1811GCGCC[4]	TGIF1	Microsatellite (5 prime UTR variant +1 more)	TGIF1-related disorder	GLikely benign
Select item 889042	NM_173208.3(TGIF1):c.-462G>A	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 4 +1 more	GBenign
Select item 889043	NM_173208.3(TGIF1):c.-460G>C	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 4	GBenign
Select item 889044	NM_173208.3(TGIF1):c.-445G>T	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 4 +1 more	GBenign
Select item 1196618	NM_173207.4(TGIF1):c.58+2082A>G	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1232556	NM_003244.4(TGIF1):c.-284A>T	LOC130062110, TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 388458	NM_003244.4(TGIF1):c.-38A>G	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 259013	NM_003244.4(TGIF1):c.-33C>A	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 2151527	NM_003244.4(TGIF1):c.16+9G>A	TGIF1	Single nucleotide variant (intron variant)	Holoprosencephaly 4	GLikely benign
Select item 1595745	NM_003244.4(TGIF1):c.16+10C>T	TGIF1	Single nucleotide variant (intron variant)	Holoprosencephaly 4	GLikely benign
Select item 1584379	NM_003244.4(TGIF1):c.16+11C>G	TGIF1	Single nucleotide variant (intron variant)	Holoprosencephaly 4	GLikely benign
Select item 1568206	NM_003244.4(TGIF1):c.16+14G>A	TGIF1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1245973	NM_003244.4(TGIF1):c.16+886_16+887insAA	TGIF1	Insertion (intron variant)	not provided	GBenign
Select item 674962	NM_003244.4(TGIF1):c.16+1037del	TGIF1	Deletion (intron variant)	not provided	GBenign
Select item 3047528	NM_003244.4(TGIF1):c.16+1127G>C	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	TGIF1-related disorder	GLikely benign
Select item 675145	NM_003244.4(TGIF1):c.16+1259C>T	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2580644	NM_003244.4(TGIF1):c.16+1268T>G	TGIF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 675146	NM_003244.4(TGIF1):c.16+1393G>A	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1198602	NM_003244.4(TGIF1):c.16+1473G>A	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 992745	NM_003244.4(TGIF1):c.16+1499T>C	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 675175	NM_003244.4(TGIF1):c.16+1527C>T	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2648526	NM_003244.4(TGIF1):c.16+1528G>A	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 252791	NM_003244.4(TGIF1):c.16+1564G>A	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GConflicting classifications of pathogenicity
Select item 3356203	NM_003244.4(TGIF1):c.16+1566C>T	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	TGIF1-related disorder	GLikely benign
Select item 1804888	NM_003244.4(TGIF1):c.16+1578C>A	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 4	GUncertain significance
Select item 1216188	NM_003244.4(TGIF1):c.16+1632C>T	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3054681	NM_003244.4(TGIF1):c.16+1642T>C	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	TGIF1-related disorder	GLikely benign
Select item 6983	NM_003244.4(TGIF1):c.16+1651C>G	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 4	GPathogenic
Select item 1202606	NM_003244.4(TGIF1):c.16+1719dup	TGIF1	Duplication (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2648527	NM_003244.4(TGIF1):c.16+1719del	TGIF1	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2648528	NM_003244.4(TGIF1):c.16+1720_16+1721del	TGIF1	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3056948	NM_003244.4(TGIF1):c.16+1720T>C	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	TGIF1-related disorder	GBenign
Select item 403532	NM_003244.4(TGIF1):c.16+1720del	TGIF1	Deletion (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 3046419	NM_003244.4(TGIF1):c.16+1723del	TGIF1	Deletion (5 prime UTR variant +1 more)	TGIF1-related disorder	GLikely benign

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