"Illumina Laboratory Services, Illumina"[submitter] AND "TGIF1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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	GBenign
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 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 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 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 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 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 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 326708	NM_003244.4(TGIF1):c.489G>A (p.Pro163=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4 +2 more	GBenign
Select item 326709	NM_003244.4(TGIF1):c.573G>T (p.Ser191=)	TGIF1	Single nucleotide variant (synonymous variant)	not provided +1 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 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 326710	NM_003244.4(TGIF1):c.723G>A (p.Pro241=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4	GConflicting classifications of pathogenicity
Select item 326711	NM_003244.4(TGIF1):c.*19A>G	TGIF1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly 4	GLikely benign
Select item 326712	NM_003244.4(TGIF1):c.*133A>G	TGIF1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 326713	NM_003244.4(TGIF1):c.*274del	TGIF1	Deletion (3 prime UTR variant)	not provided +1 more	GBenign
Select item 326714	NM_003244.4(TGIF1):c.*336T>C	TGIF1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 326715	NM_003244.4(TGIF1):c.*407C>G	TGIF1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GLikely benign
Select item 326716	NM_003244.4(TGIF1):c.*441del	TGIF1	Deletion (3 prime UTR variant)	Holoprosencephaly sequence	GLikely benign
Select item 1328441	GRCh37/hg19 18p11.32-11.31(chr18:64647-4472031)x3	ADCYAP1, CETN1 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1180530	GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1	CETN1, CLUL1 +25 more	Copy number loss	not provided	GPathogenic

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Items: 23