TTC7A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1250417	NM_020458.4(TTC7A):c.184+139C>T	TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247852	NM_020458.4(TTC7A):c.184+235A>C	TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1932883	NM_020458.4(TTC7A):c.185-20A>G	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1643015	NM_020458.4(TTC7A):c.185-14A>G	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2784839	NM_020458.4(TTC7A):c.185-13C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2420089	NM_020458.4(TTC7A):c.185-10T>G	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 626202	NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu)	TTC7A (D63E +1 more)	Single nucleotide variant (missense variant +1 more)	Gastrointestinal defects and immunodeficiency syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1071145	NM_020458.4(TTC7A):c.192del (p.Phe64fs)	TTC7A (F30fs +1 more)	Deletion (frameshift variant +1 more)	Multiple gastrointestinal atresias +1 more	GPathogenic/Likely pathogenic
Select item 2997075	NM_020458.4(TTC7A):c.191T>A (p.Phe64Tyr)	TTC7A (F30Y +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1036922	NM_020458.4(TTC7A):c.194G>C (p.Gly65Ala)	TTC7A (G65A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1561778	NM_020458.4(TTC7A):c.202C>T (p.Leu68=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2983108	NM_020458.4(TTC7A):c.204G>C (p.Leu68=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 846721	NM_020458.4(TTC7A):c.208G>A (p.Ala70Thr)	TTC7A (A70T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 190395	NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys)	TTC7A (E71K +1 more)	Single nucleotide variant (missense variant +1 more)	Gastrointestinal defect and immunodeficiency syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2330872	NM_020458.4(TTC7A):c.214G>A (p.Ala72Thr)	TTC7A (A72T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2001826	NM_020458.4(TTC7A):c.226C>T (p.Gln76Ter)	TTC7A (Q42* +1 more)	Single nucleotide variant (nonsense +1 more)	Multiple gastrointestinal atresias	GPathogenic
Select item 755586	NM_020458.4(TTC7A):c.246T>C (p.His82=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1517173	NM_020458.4(TTC7A):c.248C>G (p.Ala83Gly)	TTC7A (A83G +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 967082	NM_020458.4(TTC7A):c.248C>A (p.Ala83Asp)	TTC7A (A83D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 649734	NM_020458.4(TTC7A):c.262T>C (p.Ser88Pro)	TTC7A (S54P +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1628053	NM_020458.4(TTC7A):c.264C>T (p.Ser88=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 665288	NM_020458.4(TTC7A):c.266T>A (p.Met89Lys)	TTC7A (M55K +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1395472	NM_020458.4(TTC7A):c.275T>C (p.Leu92Pro)	TTC7A (L58P +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1696369	NM_020458.4(TTC7A):c.281del (p.Lys94fs)	TTC7A (K60fs +1 more)	Deletion (frameshift variant +1 more)	Gastrointestinal defect and immunodeficiency syndrome	GLikely pathogenic
Select item 640974	NM_020458.4(TTC7A):c.280A>T (p.Lys94Ter)	TTC7A (K60* +1 more)	Single nucleotide variant (nonsense +1 more)	Multiple gastrointestinal atresias	GPathogenic
Select item 528457	NM_020458.4(TTC7A):c.280A>C (p.Lys94Gln)	TTC7A (K94Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 284147	NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter)	TTC7A (E62* +1 more)	Single nucleotide variant (nonsense +1 more)	Gastrointestinal defects and immunodeficiency syndrome 1 +1 more	GPathogenic
Select item 856342	NM_020458.4(TTC7A):c.290C>T (p.Pro97Leu)	TTC7A (P97L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1138741	NM_020458.4(TTC7A):c.291G>A (p.Pro97=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1693515	NM_020458.4(TTC7A):c.295A>G (p.Met99Val)	TTC7A (M65V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2134229	NM_020458.4(TTC7A):c.300_302delinsTTC (p.Glu101Ser)	TTC7A (E67S +1 more)	Indel (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 284146	NM_020458.4(TTC7A):c.300C>T (p.Ser100=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1663670	NM_020458.4(TTC7A):c.303A>G (p.Glu101=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1376789	NM_020458.4(TTC7A):c.308A>G (p.Lys103Arg)	TTC7A (K103R +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 190390	NM_020458.4(TTC7A):c.315_318del (p.Asn104_Tyr105insTer)	TTC7A	Deletion (nonsense +1 more)	Multiple gastrointestinal atresias	GPathogenic
Select item 1546025	NM_020458.4(TTC7A):c.315T>C (p.Tyr105=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2633204	NM_020458.4(TTC7A):c.316_317delinsG (p.Leu106fs)	TTC7A (L106fs +1 more)	Indel (frameshift variant +1 more)	TTC7A-related disorder	GLikely pathogenic
Select item 2539149	NM_020458.4(TTC7A):c.320G>A (p.Ser107Asn)	TTC7A (S73N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 458799	NM_020458.4(TTC7A):c.328C>G (p.Leu110Val)	TTC7A (L110V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 947400	NM_020458.4(TTC7A):c.335A>G (p.His112Arg)	TTC7A (H112R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 659310	NM_020458.4(TTC7A):c.336T>G (p.His112Gln)	TTC7A (H112Q +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1043934	NM_020458.4(TTC7A):c.338G>A (p.Gly113Glu)	TTC7A (G113E +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2150774	NM_020458.4(TTC7A):c.339G>A (p.Gly113=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 724831	NM_020458.4(TTC7A):c.347C>T (p.Ser116Leu)	TTC7A (S116L +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias +2 more	GLikely benign
Select item 1483669	NM_020458.4(TTC7A):c.348+4A>G	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1624710	NM_020458.4(TTC7A):c.348+7_348+8delinsGT	TTC7A	Indel (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1161366	NM_020458.4(TTC7A):c.348+7C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1155231	NM_020458.4(TTC7A):c.348+7C>A	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1102032	NM_020458.4(TTC7A):c.348+8G>A	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1538865	NM_020458.4(TTC7A):c.348+9T>C	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2718697	NM_020458.4(TTC7A):c.348+16_348+23del	TTC7A	Deletion (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1600324	NM_020458.4(TTC7A):c.348+12G>A	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GBenign
Select item 1585816	NM_020458.4(TTC7A):c.348+17C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1279248	NM_020458.4(TTC7A):c.348+122G>T	TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1617950	NM_020458.4(TTC7A):c.349-12T>C	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1404656	NM_020458.4(TTC7A):c.349-8C>G	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1091101	NM_020458.4(TTC7A):c.349-8C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2704545	NM_020458.4(TTC7A):c.349-5T>A	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 579282	NM_020458.4(TTC7A):c.374T>C (p.Leu125Pro)	TTC7A (L91P +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2148483	NM_020458.4(TTC7A):c.375G>C (p.Leu125=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1060365	NM_020458.4(TTC7A):c.378C>G (p.Ile126Met)	TTC7A (I126M +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1381482	NM_020458.4(TTC7A):c.380T>C (p.Leu127Pro)	TTC7A (L93P +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2809711	NM_020458.4(TTC7A):c.390G>A (p.Leu130=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1615937	NM_020458.4(TTC7A):c.396C>T (p.Tyr132=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 939715	NM_020458.4(TTC7A):c.397G>C (p.Val133Leu)	TTC7A (V133L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 843077	NM_020458.4(TTC7A):c.397G>A (p.Val133Met)	TTC7A (V99M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 576701	NM_020458.4(TTC7A):c.407C>T (p.Ser136Leu)	TTC7A (S102L +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1654165	NM_020458.4(TTC7A):c.408A>G (p.Ser136=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 3184387	NM_020458.4(TTC7A):c.409T>A (p.Tyr137Asn)	TTC7A (Y137N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 650168	NM_020458.4(TTC7A):c.409T>C (p.Tyr137His)	TTC7A (Y137H +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 808740	NM_020458.4(TTC7A):c.412C>T (p.Arg138Ter)	TTC7A (R138* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2202188	NM_020458.4(TTC7A):c.413G>C (p.Arg138Pro)	TTC7A (R104P +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias +1 more	GUncertain significance
Select item 856358	NM_020458.4(TTC7A):c.413G>A (p.Arg138Gln)	TTC7A (R138Q +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2016882	NM_020458.4(TTC7A):c.416A>G (p.Asp139Gly)	TTC7A (D139G +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 859397	NM_020458.4(TTC7A):c.427A>G (p.Met143Val)	TTC7A (M109V +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 756843	NM_020458.4(TTC7A):c.432C>T (p.Tyr144=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	TTC7A-related disorder +1 more	GLikely benign
Select item 1055896	NM_020458.4(TTC7A):c.433G>T (p.Ala145Ser)	TTC7A (A111S +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 528463	NM_020458.4(TTC7A):c.433G>A (p.Ala145Thr)	TTC7A (A145T +1 more)	Single nucleotide variant (missense variant +1 more)	TTC7A-related disorder +2 more	GUncertain significance
Select item 1465106	NM_020458.4(TTC7A):c.436C>T (p.Arg146Trp)	TTC7A (R112W +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias +1 more	GUncertain significance
Select item 712939	NM_020458.4(TTC7A):c.437G>A (p.Arg146Gln)	TTC7A (R112Q +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GBenign
Select item 458800	NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu)	TTC7A (R112L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1084886	NM_020458.4(TTC7A):c.441C>T (p.Ala147=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1040386	NM_020458.4(TTC7A):c.442G>A (p.Gly148Arg)	TTC7A (G114R +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1043605	NM_020458.4(TTC7A):c.445A>G (p.Ile149Val)	TTC7A (I149V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2062958	NM_020458.4(TTC7A):c.446T>C (p.Ile149Thr)	TTC7A (I115T +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 3184389	NM_020458.4(TTC7A):c.450T>A (p.Asp150Glu)	TTC7A (D150E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1625816	NM_020458.4(TTC7A):c.450T>C (p.Asp150=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2622473	NM_020458.4(TTC7A):c.452A>G (p.Asp151Gly)	TTC7A (D117G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 713890	NM_020458.4(TTC7A):c.453C>T (p.Asp151=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2070224	NM_020458.4(TTC7A):c.460A>T (p.Met154Leu)	TTC7A (M120L +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 834742	NM_020458.4(TTC7A):c.460A>G (p.Met154Val)	TTC7A (M120V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1089456	NM_020458.4(TTC7A):c.462G>A (p.Met154Ile)	TTC7A (M120I +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2415318	NM_020458.4(TTC7A):c.465G>A (p.Glu155=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1019299	NM_020458.4(TTC7A):c.468C>A (p.Asn156Lys)	TTC7A (N122K +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1402859	NM_020458.4(TTC7A):c.473C>A (p.Pro158His)	TTC7A (P158H +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2142769	NM_020458.4(TTC7A):c.475C>A (p.Leu159Met)	TTC7A (L125M +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1525049	NM_020458.4(TTC7A):c.476T>C (p.Leu159Pro)	TTC7A (L125P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3022144	NM_020458.4(TTC7A):c.477G>A (p.Leu159=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 744973	NM_020458.4(TTC7A):c.483G>A (p.Gln161=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 645445	NM_020458.4(TTC7A):c.487C>T (p.Arg163Trp)	TTC7A (R163W +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance

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