ClinVar for Gene (Select 57217) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363134	NM_020458.4(TTC7A):c.1199C>T (p.Ser400Leu)	TTC7A (S366L +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal defects and immunodeficiency syndrome 1	GUncertain significance
Select item 3345522	NM_020458.4(TTC7A):c.1609dup (p.Tyr537fs)	TTC7A (Y183fs +2 more)	Duplication (frameshift variant)	TTC7A-related disorder	GLikely pathogenic
Select item 3329913	NM_020458.4(TTC7A):c.2512A>G (p.Thr838Ala)	TTC7A (T484A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329911	NM_020458.4(TTC7A):c.1801A>G (p.Asn601Asp)	TTC7A (N567D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329910	NM_020458.4(TTC7A):c.2024G>A (p.Arg675Gln)	TTC7A (R675Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329909	NM_020458.4(TTC7A):c.515A>G (p.Lys172Arg)	TTC7A (K138R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251463	NM_020458.4(TTC7A):c.2056_2059delinsTAGT (p.Glu686_Glu687delinsTer)	TTC7A	Indel (nonsense)	Severe combined immunodeficiency disease	GPathogenic
Select item 3247142	NC_000002.11:g.(?_47256343)_(47256543_?)del	TTC7A	Deletion	Multiple gastrointestinal atresias	GPathogenic
Select item 3233576	NM_020458.4(TTC7A):c.164C>T (p.Ala55Val)	MCFD2, TTC7A (A55V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184392	NM_020458.4(TTC7A):c.838A>G (p.Lys280Glu)	TTC7A (K280E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184391	NM_020458.4(TTC7A):c.79G>T (p.Asp27Tyr)	MCFD2, TTC7A (D27Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3184390	NM_020458.4(TTC7A):c.787G>C (p.Glu263Gln)	TTC7A (E229Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 3184385	NM_020458.4(TTC7A):c.2306A>C (p.Lys769Thr)	TTC7A (K769T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184383	NM_020458.4(TTC7A):c.1803C>G (p.Asn601Lys)	TTC7A (N247K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184382	NM_020458.4(TTC7A):c.1754C>T (p.Ala585Val)	TTC7A (A231V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184381	NM_020458.4(TTC7A):c.1577A>C (p.Gln526Pro)	TTC7A (Q172P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184380	NM_020458.4(TTC7A):c.1423G>T (p.Val475Leu)	TTC7A (V121L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184379	NM_020458.4(TTC7A):c.1315G>A (p.Glu439Lys)	TTC7A (E405K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184378	NM_020458.4(TTC7A):c.1159A>G (p.Ser387Gly)	TTC7A (S353G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069133	NM_020458.4(TTC7A):c.30C>T (p.Tyr10=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 3048467	NM_020458.4(TTC7A):c.1066-8A>G	TTC7A	Single nucleotide variant (intron variant)	TTC7A-related disorder	GLikely benign
Select item 3044533	NM_020458.4(TTC7A):c.1803-6C>A	TTC7A	Single nucleotide variant (intron variant)	TTC7A-related disorder	GLikely benign
Select item 3038365	NM_020458.4(TTC7A):c.1510+109T>A	TTC7A	Single nucleotide variant (intron variant)	TTC7A-related disorder	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 disorder	GUncertain significance
Select item 3025904	NM_020458.4(TTC7A):c.2051G>A (p.Arg684Gln)	TTC7A (R330Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023516	NM_020458.4(TTC7A):c.765-13G>A	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
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 3020169	NM_020458.4(TTC7A):c.145C>A (p.Arg49=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 3018032	NM_020458.4(TTC7A):c.1345A>G (p.Thr449Ala)	TTC7A (T415A +2 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias	GUncertain significance
Select item 3017415	NM_020458.4(TTC7A):c.1393-10_1393-8del	TTC7A	Microsatellite (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 3016094	NM_020458.4(TTC7A):c.2541T>C (p.Pro847=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 3010463	NM_020458.4(TTC7A):c.1288-20C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 3009316	NM_020458.4(TTC7A):c.1920-19G>A	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 3002810	NM_020458.4(TTC7A):c.1383C>A (p.Ser461=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 3001306	NM_020458.4(TTC7A):c.108G>C (p.Leu36=)	MCFD2, TTC7A (C5W)	Single nucleotide variant (synonymous variant +3 more)	Multiple gastrointestinal atresias	GLikely benign
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 2987099	NM_020458.4(TTC7A):c.1288-19C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2984347	NM_020458.4(TTC7A):c.2152+15C>G	TTC7A	Single nucleotide variant (intron variant)	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 2976000	NM_020458.4(TTC7A):c.2467C>T (p.Leu823=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2974686	NM_020458.4(TTC7A):c.800T>A (p.Val267Glu)	TTC7A (V233E +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2970063	NM_020458.4(TTC7A):c.1656G>C (p.Met552Ile)	TTC7A (M518I +2 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2964666	NM_020458.4(TTC7A):c.2412T>C (p.Asp804=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2963948	NM_020458.4(TTC7A):c.1663C>T (p.Leu555=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2955438	NM_020458.4(TTC7A):c.1287+10A>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2917855	NM_020458.4(TTC7A):c.21C>T (p.His7=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2917055	NM_020458.4(TTC7A):c.1802+17C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2911719	NM_020458.4(TTC7A):c.1842A>G (p.Lys614=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2910938	NM_020458.4(TTC7A):c.2018-19G>A	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2904916	NM_020458.4(TTC7A):c.1392+7G>C	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2903189	NM_020458.4(TTC7A):c.828T>G (p.Thr276=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2903092	NM_020458.4(TTC7A):c.2018-6C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2902680	NM_020458.4(TTC7A):c.1632C>G (p.Leu544=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2893958	NM_020458.4(TTC7A):c.1653C>G (p.Ala551=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2890436	NM_020458.4(TTC7A):c.532C>T (p.Arg178Cys)	LOC126806211, TTC7A (R144C +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2888790	NM_020458.4(TTC7A):c.900C>T (p.Tyr300=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2883113	NM_020458.4(TTC7A):c.2274G>A (p.Lys758=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2882090	NM_020458.4(TTC7A):c.1001+16C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2879156	NM_020458.4(TTC7A):c.535C>G (p.Leu179Val)	LOC126806211, TTC7A (L145V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2878514	NM_020458.4(TTC7A):c.843+15T>C	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2876305	NM_020458.4(TTC7A):c.843+20G>A	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2875227	NM_020458.4(TTC7A):c.996A>C (p.Gly332=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2874496	NM_020458.4(TTC7A):c.1802+9C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2870759	NM_020458.4(TTC7A):c.2533A>G (p.Ser845Gly)	TTC7A (S491G +3 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2870097	NM_020458.4(TTC7A):c.799G>T (p.Val267Leu)	TTC7A (V233L +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2867266	NM_020458.4(TTC7A):c.518-20G>C	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2856175	NM_020458.4(TTC7A):c.2260C>T (p.Leu754=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2852727	NM_020458.4(TTC7A):c.2007T>C (p.Asp669=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2852075	NM_020458.4(TTC7A):c.849G>C (p.Ala283=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2849356	NM_020458.4(TTC7A):c.1662G>A (p.Gln554=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2848896	NM_020458.4(TTC7A):c.764+7C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2847526	NM_020458.4(TTC7A):c.2229T>C (p.Thr743=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2841339	NM_020458.4(TTC7A):c.2455C>T (p.Leu819=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2839670	NM_020458.4(TTC7A):c.888T>A (p.Ser296Arg)	TTC7A (S296R +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2837889	NM_020458.4(TTC7A):c.1393-4G>A	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2837148	NM_020458.4(TTC7A):c.1392+16G>C	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2834658	NM_020458.4(TTC7A):c.1713G>C (p.Leu571=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2826150	NM_020458.4(TTC7A):c.1493G>C (p.Ser498Thr)	TTC7A (S464T +2 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2823677	NM_020458.4(TTC7A):c.2355+12C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2822800	NM_020458.4(TTC7A):c.1204-6C>G	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2822105	NM_020458.4(TTC7A):c.1511-8C>A	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2819608	NM_020458.4(TTC7A):c.176del (p.Pro59fs)	TTC7A, MCFD2 (P59fs)	Deletion (frameshift variant +2 more)	Multiple gastrointestinal atresias	GPathogenic
Select item 2814056	NM_020458.4(TTC7A):c.499G>T (p.Glu167Ter)	TTC7A (E167* +1 more)	Single nucleotide variant (nonsense +1 more)	Multiple gastrointestinal atresias	GPathogenic
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 2808292	NM_020458.4(TTC7A):c.1393-16TC[2]	TTC7A	Microsatellite (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2806541	NM_020458.4(TTC7A):c.1001+15C>A	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2804566	NM_020458.4(TTC7A):c.2017+15del	TTC7A	Deletion (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2804551	NM_020458.4(TTC7A):c.2223C>T (p.Phe741=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2796993	NM_020458.4(TTC7A):c.2199C>T (p.Cys733=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2794445	NM_020458.4(TTC7A):c.1919+17G>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2790522	NM_020458.4(TTC7A):c.517+11G>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2790512	NM_020458.4(TTC7A):c.2237C>T (p.Ser746Leu)	TTC7A (S770L +3 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2787445	NM_020458.4(TTC7A):c.2355+16C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2786246	NM_020458.4(TTC7A):c.642G>A (p.Leu214=)	LOC126806211, TTC7A	Single nucleotide variant (synonymous variant +1 more)	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 2784724	NM_020458.4(TTC7A):c.2480G>A (p.Gly827Asp)	TTC7A (G851D +3 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2781580	NM_020458.4(TTC7A):c.648+18C>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2779568	NM_020458.4(TTC7A):c.2553C>T (p.Phe851=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign

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