ClinVar for Gene (Select 7050) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 289

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378040	NM_003244.4(TGIF1):c.177C>A (p.Tyr59Ter)	TGIF1 (Y39* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3370927	NM_003244.4(TGIF1):c.334C>A (p.Arg112Ser)	TGIF1 (R112S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359362	NM_003244.4(TGIF1):c.321G>T (p.Gln107His)	TGIF1 (Q107H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3353981	NM_003244.4(TGIF1):c.238C>T (p.Leu80=)	TGIF1	Single nucleotide variant (synonymous variant)	TGIF1-related disorder	GLikely benign
Select item 3176689	NM_003244.4(TGIF1):c.683C>T (p.Thr228Ile)	TGIF1 (T231I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063557	GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1	ADCYAP1, AKAIN1 +19 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 3057259	NM_003244.4(TGIF1):c.16+1801G>T	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	TGIF1-related disorder	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 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 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 3046419	NM_003244.4(TGIF1):c.16+1723del	TGIF1	Deletion (5 prime UTR variant +1 more)	TGIF1-related disorder	GLikely benign
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 3030026	NM_003244.4(TGIF1):c.465A>G (p.Pro155=)	TGIF1	Single nucleotide variant (synonymous variant)	TGIF1-related disorder	GLikely benign
Select item 3026744	NM_003244.4(TGIF1):c.319C>T (p.Gln107Ter)	TGIF1 (Q107* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3024102	NM_003244.4(TGIF1):c.16+1805del	TGIF1	Deletion (intron variant +1 more)	Holoprosencephaly 4	GLikely pathogenic
Select item 2901362	NM_003244.4(TGIF1):c.779G>A (p.Arg260Gln)	TGIF1 (R274Q +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 2891575	NM_003244.4(TGIF1):c.426T>A (p.His142Gln)	TGIF1 (H122Q +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 2769846	NM_003244.4(TGIF1):c.108_110del (p.Arg39del)	TGIF1 (R53del +3 more)	Deletion (inframe_deletion)	Holoprosencephaly 4	GUncertain significance
Select item 2745645	NM_003244.4(TGIF1):c.244-13G>A	TGIF1	Single nucleotide variant (intron variant)	Holoprosencephaly 4	GLikely benign
Select item 2724944	NM_003244.4(TGIF1):c.808C>T (p.Leu270Phe)	TGIF1 (L270F +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 2722618	NM_003244.4(TGIF1):c.299A>G (p.Lys100Arg)	TGIF1 (K103R +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 2685612	GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2671956	NM_003244.4(TGIF1):c.257del (p.Phe86fs)	TGIF1 (F100fs +3 more)	Deletion (frameshift variant)	Holoprosencephaly 4	GPathogenic
Select item 2648532	NM_003244.4(TGIF1):c.409G>A (p.Glu137Lys)	TGIF1 (E117K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648531	NM_003244.4(TGIF1):c.327A>T (p.Thr109=)	TGIF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648530	NM_003244.4(TGIF1):c.16+1788G>A	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2648529	NM_003244.4(TGIF1):c.16+1723T>C	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 2648527	NM_003244.4(TGIF1):c.16+1719del	TGIF1	Deletion (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 2591535	NM_003244.4(TGIF1):c.122A>G (p.Asn41Ser)	TGIF1 (N44S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582647	NM_003244.4(TGIF1):c.214del (p.Ser72fs)	TGIF1 (S52fs +3 more)	Deletion (frameshift variant)	Holoprosencephaly 4	GLikely pathogenic
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 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 2538163	NM_003244.4(TGIF1):c.452C>T (p.Thr151Ile)	TGIF1 (T151I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501990	NM_003244.4(TGIF1):c.521G>T (p.Cys174Phe)	TGIF1 (C154F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2424763	NC_000018.9:g.(?_2656075)_(3457938_?)del	EMILIN2, LPIN2 +5 more	Deletion	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2420581	NM_003244.4(TGIF1):c.48G>A (p.Glu16=)	TGIF1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 4	GBenign
Select item 2415467	NM_003244.4(TGIF1):c.174T>A (p.Arg58=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4	GBenign
Select item 2410054	NM_003244.4(TGIF1):c.218A>G (p.Gln73Arg)	TGIF1 (Q73R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265679	NM_003244.4(TGIF1):c.291G>A (p.Met97Ile)	TGIF1 (M77I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198625	NM_003244.4(TGIF1):c.244-19C>T	TGIF1	Single nucleotide variant (intron variant)	Holoprosencephaly 4	GLikely benign
Select item 2174583	NM_003244.4(TGIF1):c.359C>T (p.Thr120Met)	TGIF1 (T120M +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 2171507	NM_003244.4(TGIF1):c.611C>T (p.Ala204Val)	TGIF1 (A184V +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 2158745	NM_003244.4(TGIF1):c.416C>A (p.Thr139Asn)	TGIF1 (T139N +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 2152994	NM_003244.4(TGIF1):c.526A>G (p.Thr176Ala)	TGIF1 (T176A +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4 +1 more	GUncertain significance
Select item 2151527	NM_003244.4(TGIF1):c.16+9G>A	TGIF1	Single nucleotide variant (intron variant)	Holoprosencephaly 4	GLikely benign
Select item 2125626	NM_003244.4(TGIF1):c.380T>C (p.Met127Thr)	TGIF1 (M127T +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 1943486	NM_003244.4(TGIF1):c.778C>T (p.Arg260Trp)	TGIF1 (R240W +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 1935349	NM_003244.4(TGIF1):c.678G>A (p.Thr226=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4	GLikely benign
Select item 1922279	NM_003244.4(TGIF1):c.396C>G (p.Phe132Leu)	TGIF1 (F112L +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 1903354	NM_003244.4(TGIF1):c.124C>T (p.Leu42=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4	GLikely benign
Select item 1809455	GRCh37/hg19 18p11.32-11.31(chr18:2818532-3412231)x3	EMILIN2, LPIN2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808701	GRCh37/hg19 18p11.32-11.31(chr18:2255007-4488934)x1	DLGAP1, DLGAP1-AS2 +9 more	Copy number loss	not provided	GPathogenic
Select item 1807830	GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1	ADCYAP1, AKAIN1 +26 more	Copy number loss	not provided	GPathogenic
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
Select item 1807658	GRCh37/hg19 18p11.32-11.31(chr18:2485817-4086341)x3	DLGAP1, DLGAP1-AS2 +9 more	Copy number gain	not provided	GUncertain significance
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 1720957	NM_003244.4(TGIF1):c.734A>G (p.Gln245Arg)	TGIF1 (Q225R +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 1711456	GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1	DLGAP1, DLGAP1-AS2 +29 more	Copy number loss	not provided	GPathogenic
Select item 1706768	NM_003244.4(TGIF1):c.506G>A (p.Arg169His)	TGIF1 (R149H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703623	GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132)	ADCYAP1, AKAIN1 +26 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703622	GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)	ADCYAP1, AKAIN1 +38 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	FAM210A, LAMA1 +65 more	Copy number gain	not provided	GPathogenic
Select item 1686351	NM_003244.4(TGIF1):c.377T>C (p.Val126Ala)	TGIF1 (V106A +3 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1625942	NM_003244.4(TGIF1):c.408A>G (p.Leu136=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4	GLikely benign
Select item 1598515	NM_003244.4(TGIF1):c.288C>T (p.Asp96=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4	GLikely benign
Select item 1598228	NM_003244.4(TGIF1):c.711C>A (p.Pro237=)	TGIF1	Single nucleotide variant (synonymous variant)	not provided +1 more	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 1592213	NM_003244.4(TGIF1):c.810T>C (p.Leu270=)	TGIF1	Single nucleotide variant (synonymous 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 1583354	NM_003244.4(TGIF1):c.612G>C (p.Ala204=)	TGIF1	Single nucleotide variant (synonymous 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 1561512	NM_003244.4(TGIF1):c.225A>G (p.Thr75=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4	GLikely benign
Select item 1541381	NM_003244.4(TGIF1):c.264C>T (p.Asn88=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4	GLikely benign
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526590	GRCh37/hg19 18p11.32-11.31(chr18:136226-6103499)	ADCYAP1, AKAIN1 +24 more	Copy number loss	not specified	GPathogenic
Select item 1482593	NM_003244.4(TGIF1):c.496G>A (p.Val166Ile)	TGIF1 (V166I +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 1452047	NC_000018.9:g.(?_2847807)_(3582246_?)del	DLGAP1, EMILIN2 +5 more	Deletion	Holoprosencephaly 4	GPathogenic
Select item 1411846	NC_000018.9:g.(?_2920291)_(3457938_?)dup	LPIN2, MYL12A +3 more	Duplication	Majeed syndrome	GUncertain significance
Select item 1402348	NM_003244.4(TGIF1):c.488C>G (p.Pro163Arg)	TGIF1 (P163R +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 1399122	NM_003244.4(TGIF1):c.609A>G (p.Ile203Met)	TGIF1 (I183M +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance

<< First< Prev

Page of 3