"PreventionGenetics, part of Exact Sciences"[submitter] AND "TTC7A"[ge - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1209045	NM_001171508.2(MCFD2):c.-6-8078G>C	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +1 more)	TTC7A-related condition +1 more	GBenign/Likely benign
Select item 2633239	NM_020458.4(TTC7A):c.32T>C (p.Leu11Pro)	MCFD2, TTC7A (L11P +1 more)	Single nucleotide variant (missense variant +2 more)	TTC7A-related condition	GUncertain significance
Select item 528474	NM_020458.4(TTC7A):c.176C>G (p.Pro59Arg)	TTC7A, MCFD2 (P59R)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2633204	NM_020458.4(TTC7A):c.316_317delinsG (p.Leu106fs)	TTC7A (L106fs +1 more)	Indel (frameshift variant +1 more)	TTC7A-related condition	GLikely pathogenic
Select item 724831	NM_020458.4(TTC7A):c.347C>T (p.Ser116Leu)	TTC7A (S116L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 756843	NM_020458.4(TTC7A):c.432C>T (p.Tyr144=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	TTC7A-related condition +1 more	GLikely benign
Select item 528463	NM_020458.4(TTC7A):c.433G>A (p.Ala145Thr)	TTC7A (A145T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 651674	NM_020458.4(TTC7A):c.517+3A>G	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias +1 more	GConflicting classifications of pathogenicity
Select item 1087786	NM_020458.4(TTC7A):c.518-5C>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias +1 more	GLikely benign
Select item 719425	NM_020458.4(TTC7A):c.570A>G (p.Thr190=)	LOC126806211, TTC7A	Single nucleotide variant (synonymous variant +1 more)	TTC7A-related condition +1 more	GBenign/Likely benign
Select item 576901	NM_020458.4(TTC7A):c.592A>G (p.Thr198Ala)	LOC126806211, TTC7A (T164A +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias +2 more	GLikely benign
Select item 458802	NM_020458.4(TTC7A):c.640T>C (p.Leu214=)	LOC126806211, TTC7A	Single nucleotide variant (synonymous variant +1 more)	TTC7A-related condition +1 more	GBenign
Select item 3028988	NM_020458.4(TTC7A):c.845T>C (p.Met282Thr)	TTC7A (M248T +1 more)	Single nucleotide variant (missense variant +1 more)	TTC7A-related condition	GUncertain significance
Select item 1588526	NM_020458.4(TTC7A):c.873G>T (p.Leu291=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	TTC7A-related condition +1 more	GLikely benign
Select item 50608	NM_020458.4(TTC7A):c.1001+3_1001+6del	TTC7A	Microsatellite (intron variant +1 more)	TTC7A-related condition	GPathogenic
Select item 3048467	NM_020458.4(TTC7A):c.1066-8A>G	TTC7A	Single nucleotide variant (intron variant)	TTC7A-related condition	GLikely benign
Select item 458793	NM_020458.4(TTC7A):c.1095G>T (p.Val365=)	TTC7A	Single nucleotide variant (synonymous variant)	TTC7A-related condition +2 more	GBenign/Likely benign
Select item 528477	NM_020458.4(TTC7A):c.1125C>T (p.Ser375=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias +1 more	GLikely benign
Select item 740655	NM_020458.4(TTC7A):c.1137C>T (p.Ala379=)	TTC7A	Single nucleotide variant (synonymous variant)	TTC7A-related condition +1 more	GLikely benign
Select item 528475	NM_020458.4(TTC7A):c.1337C>T (p.Ser446Leu)	TTC7A (S446L +2 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias +1 more	GBenign/Likely benign
Select item 528467	NM_020458.4(TTC7A):c.1348G>A (p.Val450Met)	TTC7A (V450M +2 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias +2 more	GBenign/Likely benign
Select item 3038365	NM_020458.4(TTC7A):c.1510+109T>A	TTC7A	Single nucleotide variant (intron variant)	TTC7A-related condition	GBenign
Select item 785633	NM_020458.4(TTC7A):c.1543C>T (p.Arg515Trp)	TTC7A (R161W +2 more)	Single nucleotide variant (missense variant)	TTC7A-related condition +1 more	GLikely benign
Select item 528465	NM_020458.4(TTC7A):c.1617G>A (p.Ser539=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias +1 more	GBenign/Likely benign
Select item 3044533	NM_020458.4(TTC7A):c.1803-6C>A	TTC7A	Single nucleotide variant (intron variant)	TTC7A-related condition	GLikely benign
Select item 242606	NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)	TTC7A (K606R +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal defects and immunodeficiency syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 458794	NM_020458.4(TTC7A):c.1860C>T (p.Leu620=)	TTC7A	Single nucleotide variant (synonymous variant)	TTC7A-related condition +2 more	GBenign
Select item 749249	NM_020458.4(TTC7A):c.1917G>T (p.Leu639=)	TTC7A	Single nucleotide variant (synonymous variant)	TTC7A-related condition +1 more	GLikely benign
Select item 242605	NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro)	TTC7A (S672P +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal defects and immunodeficiency syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 2055016	NM_020458.4(TTC7A):c.2052G>C (p.Arg684=)	TTC7A	Single nucleotide variant (synonymous variant)	TTC7A-related condition +1 more	GLikely benign
Select item 1611167	NM_020458.4(TTC7A):c.2153-10G>C	TTC7A	Single nucleotide variant (intron variant)	TTC7A-related condition +1 more	GLikely benign
Select item 458796	NM_020458.4(TTC7A):c.2214G>A (p.Ala738=)	TTC7A	Single nucleotide variant (synonymous variant)	TTC7A-related condition +1 more	GLikely benign
Select item 707926	NM_020458.4(TTC7A):c.2258G>A (p.Arg753Gln)	TTC7A (R719Q +3 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias +1 more	GLikely benign
Select item 1137119	NM_020458.4(TTC7A):c.2356-9C>T	TTC7A	Single nucleotide variant (intron variant)	TTC7A-related condition +1 more	GLikely benign
Select item 458797	NM_020458.4(TTC7A):c.2460C>T (p.Gly820=)	TTC7A	Single nucleotide variant (synonymous variant)	TTC7A-related condition +2 more	GBenign/Likely benign
Select item 626203	NM_020458.4(TTC7A):c.2484G>C (p.Gln828His)	TTC7A (Q828H +3 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias +3 more	GConflicting classifications of pathogenicity
Select item 1668423	NM_020458.4(TTC7A):c.2545C>T (p.Leu849=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias +1 more	GLikely benign

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Items: 37