ClinVar for MedGen (Select 374488) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2671956	NM_003244.4(TGIF1):c.257del (p.Phe86fs)	TGIF1 (F100fs +3 more)	Deletion (frameshift variant)	Holoprosencephaly 4	GPathogenic
Select item 2582647	NM_003244.4(TGIF1):c.214del (p.Ser72fs)	TGIF1 (S52fs +3 more)	Deletion (frameshift variant)	Holoprosencephaly 4	GLikely pathogenic
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 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 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 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)	Holoprosencephaly 4 +1 more	GLikely benign
Select item 1595745	NM_003244.4(TGIF1):c.16+10C>T	TGIF1	Single nucleotide variant (intron variant)	Holoprosencephaly 4 +1 more	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)	Holoprosencephaly 4	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 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	EMILIN2, LPIN2 +5 more	Deletion	Holoprosencephaly 4	GPathogenic
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
Select item 1397444	NM_003244.4(TGIF1):c.460A>G (p.Arg154Gly)	TGIF1 (R154G +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 1381331	NM_003244.4(TGIF1):c.572C>T (p.Ser191Leu)	TGIF1 (S191L +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 1372531	NM_003244.4(TGIF1):c.289A>G (p.Met97Val)	TGIF1 (M111V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1356112	NM_003244.4(TGIF1):c.376G>A (p.Val126Met)	TGIF1 (V106M +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 1342651	NM_003244.4(TGIF1):c.16+1829G>A	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 4	GUncertain significance
Select item 1311889	NM_003244.4(TGIF1):c.338G>A (p.Arg113His)	TGIF1 (R113H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 970967	NM_003244.4(TGIF1):c.463C>T (p.Pro155Ser)	TGIF1 (P135S +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 889044	NM_173208.3(TGIF1):c.-445G>T	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 4	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 889042	NM_173208.3(TGIF1):c.-462G>A	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 4	GBenign
Select item 861015	NM_003244.4(TGIF1):c.271C>T (p.Arg91Cys)	TGIF1 (R105C +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 734364	NM_003244.4(TGIF1):c.90C>T (p.Ser30=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4	GLikely benign
Select item 707438	NM_003244.4(TGIF1):c.228C>A (p.His76Gln)	TGIF1 (H79Q +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GBenign
Select item 697792	NM_003244.4(TGIF1):c.60C>T (p.Ser20=)	TGIF1	Single nucleotide variant (synonymous variant +1 more)	TGIF1-related condition +2 more	GBenign
Select item 643155	NC_000018.10:g.(?_3447720)_(3457960_?)del	LOC130062108, LOC130062109 +3 more	Deletion	Holoprosencephaly 4	GPathogenic
Select item 545574	NM_003244.4(TGIF1):c.337C>T (p.Arg113Cys)	TGIF1 (R113C +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 533431	NM_003244.4(TGIF1):c.268C>T (p.Arg90Cys)	TGIF1 (R90C +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GLikely pathogenic
Select item 326711	NM_003244.4(TGIF1):c.*19A>G	TGIF1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 4	GLikely benign
Select item 326710	NM_003244.4(TGIF1):c.723G>A (p.Pro241=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4	GConflicting classifications of pathogenicity
Select item 326709	NM_003244.4(TGIF1):c.573G>T (p.Ser191=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4 +1 more	GBenign/Likely benign
Select item 326708	NM_003244.4(TGIF1):c.489G>A (p.Pro163=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4 +2 more	GBenign
Select item 259019	NM_003244.4(TGIF1):c.657T>G (p.Thr219=)	TGIF1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 259018	NM_003244.4(TGIF1):c.576C>T (p.Val192=)	TGIF1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 259017	NM_003244.4(TGIF1):c.488C>T (p.Pro163Leu)	TGIF1 (P163L +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 259016	NM_003244.4(TGIF1):c.487C>T (p.Pro163Ser)	TGIF1 (P163S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 259015	NM_003244.4(TGIF1):c.420A>G (p.Pro140=)	TGIF1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 259014	NM_003244.4(TGIF1):c.123C>T (p.Asn41=)	TGIF1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 65507	NM_003244.4(TGIF1):c.581T>G (p.Val194Gly)	TGIF1 (V174G +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GBenign
Select item 65504	TGIF1:c.887C>T		Single nucleotide variant	Holoprosencephaly 4	GBenign
Select item 65496	NM_003244.4(TGIF1):c.16+1845C>T	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 4	GBenign
Select item 6984	NM_003244.4(TGIF1):c.320A>T (p.Gln107Leu)	TGIF1 (Q107L +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely 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 6982	NM_003244.4(TGIF1):c.485C>T (p.Ser162Phe)	TGIF1 (S162F +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GUncertain significance
Select item 6981	NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala)	TGIF1 (T151A +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 6980	NM_003244.4(TGIF1):c.188C>G (p.Pro63Arg)	TGIF1 (P63R +3 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 4	GPathogenic
Select item 6979	NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys)	TGIF1 (S28C +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 75