Related gene-specific medical variations for Gene (Select 57217) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2867266	NM_020458.4(TTC7A):c.518-20G>C	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2819608	NM_020458.4(TTC7A):c.176del (p.Pro59fs)	MCFD2, TTC7A (P59fs)	Deletion (frameshift variant +2 more)	Multiple gastrointestinal atresias	GPathogenic
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 2781580	NM_020458.4(TTC7A):c.648+18C>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2777679	NM_020458.4(TTC7A):c.635A>G (p.Gln212Arg)	LOC126806211, TTC7A (Q212R +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2758825	NM_020458.4(TTC7A):c.106C>T (p.Leu36=)	MCFD2, TTC7A (S6N)	Single nucleotide variant (synonymous variant +3 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2650877	NM_020458.4(TTC7A):c.31C>T (p.Leu11=)	MCFD2, TTC7A (R31K)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2650876	NM_001171508.2(MCFD2):c.-6-8033C>T	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 2533838	NM_020458.4(TTC7A):c.107T>C (p.Leu36Pro)	MCFD2, TTC7A (S6G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2503811	NM_020458.4(TTC7A):c.8del (p.Ala3fs)	TTC7A, MCFD2 (A3fs)	Deletion (frameshift variant +2 more)	Gastrointestinal defect and immunodeficiency syndrome	GLikely pathogenic
Select item 2498818	NM_001171508.2(MCFD2):c.-6-8062G>A	MCFD2, TTC7A (S15F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2478952	NM_020458.4(TTC7A):c.585A>C (p.Glu195Asp)	LOC126806211, TTC7A (E161D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289329	NM_020458.4(TTC7A):c.137G>A (p.Gly46Asp)	MCFD2, TTC7A (G46D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2145713	NM_020458.4(TTC7A):c.154C>T (p.Pro52Ser)	MCFD2, TTC7A (P52S)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2139849	NM_020458.4(TTC7A):c.648+3G>A	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2135849	NM_020458.4(TTC7A):c.15C>T (p.Gly5=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2105202	NM_020458.4(TTC7A):c.551C>T (p.Ala184Val)	LOC126806211, TTC7A (A184V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2077521	NM_020458.4(TTC7A):c.550G>A (p.Ala184Thr)	LOC126806211, TTC7A (A184T +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2069745	NM_020458.4(TTC7A):c.35A>G (p.Lys12Arg)	MCFD2, TTC7A (F30L +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2056507	NM_020458.4(TTC7A):c.533G>T (p.Arg178Leu)	LOC126806211, TTC7A (R144L +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2003902	NM_020458.4(TTC7A):c.136G>C (p.Gly46Arg)	MCFD2, TTC7A (G46R)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1988728	NM_020458.4(TTC7A):c.518-20G>A	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1949534	NM_020458.4(TTC7A):c.584A>G (p.Glu195Gly)	LOC126806211, TTC7A (E195G +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1914937	NM_020458.4(TTC7A):c.153C>G (p.Ser51Arg)	MCFD2, TTC7A (S51R)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1720676	NM_020458.4(TTC7A):c.180C>G (p.Asp60Glu)	MCFD2, TTC7A (D60E)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1699976	NM_020458.4(TTC7A):c.518-2A>T	LOC126806211, TTC7A	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1678372	NM_001171508.2(MCFD2):c.-6-8025G>A	TTC7A, MCFD2 (P3S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1639011	NM_020458.4(TTC7A):c.184+7A>C	MCFD2, TTC7A	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1634154	NM_020458.4(TTC7A):c.81C>T (p.Asp27=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1603462	NM_020458.4(TTC7A):c.518-6C>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1587783	NM_020458.4(TTC7A):c.618C>T (p.Ile206=)	LOC126806211, TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1571599	NM_020458.4(TTC7A):c.576G>A (p.Arg192=)	TTC7A, LOC126806211	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1544150	NM_020458.4(TTC7A):c.94C>T (p.Leu32=)	TTC7A, MCFD2 (S10N)	Single nucleotide variant (synonymous variant +3 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1541649	NM_020458.4(TTC7A):c.648+20G>A	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GBenign
Select item 1539163	NM_020458.4(TTC7A):c.639A>G (p.Glu213=)	LOC126806211, TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1531222	NM_020458.4(TTC7A):c.518-4G>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1524790	NM_020458.4(TTC7A):c.591C>G (p.Ile197Met)	LOC126806211, TTC7A (I197M +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1523834	NM_020458.4(TTC7A):c.592A>C (p.Thr198Pro)	LOC126806211, TTC7A (T164P +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1502463	NM_020458.4(TTC7A):c.141C>A (p.Asn47Lys)	MCFD2, TTC7A (N47K)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1499268	NM_020458.4(TTC7A):c.73C>T (p.His25Tyr)	TTC7A, MCFD2 (H25Y +1 more)	Single nucleotide variant (missense variant +3 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1497057	NM_020458.4(TTC7A):c.607G>T (p.Ala203Ser)	LOC126806211, TTC7A (A169S +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1487795	NM_020458.4(TTC7A):c.113C>G (p.Thr38Arg)	MCFD2, TTC7A (T38R +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1460547	NM_020458.4(TTC7A):c.624G>T (p.Gln208His)	LOC126806211, TTC7A (Q174H +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1437772	NM_020458.4(TTC7A):c.52G>C (p.Glu18Gln)	MCFD2, TTC7A (E18Q +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1433198	NM_020458.4(TTC7A):c.46G>A (p.Glu16Lys)	MCFD2, TTC7A (E16K +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1403869	NM_020458.4(TTC7A):c.124C>G (p.Pro42Ala)	MCFD2, TTC7A (P42A)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1366837	NM_020458.4(TTC7A):c.620C>T (p.Ala207Val)	LOC126806211, TTC7A (A207V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1323723	NM_020458.4(TTC7A):c.1919+1G>A	TTC7A	Single nucleotide variant (splice donor variant)	Gastrointestinal defects and immunodeficiency syndrome 1	GPathogenic
Select item 1293929	NM_020458.4(TTC7A):c.184+28G>C	MCFD2, TTC7A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1285856	NM_001171508.2(MCFD2):c.-6-8313T>C	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285754	NM_001171508.2(MCFD2):c.-6-7854T>G	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280667	NM_001171508.2(MCFD2):c.-6-8216A>G	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278014	NM_020458.4(TTC7A):c.648+72C>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274211	NM_001171508.2(MCFD2):c.-7+384G>T	LOC129933677, MCFD2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271947	NM_001171508.2(MCFD2):c.-7+725A>G	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268387	NM_001171508.2(MCFD2):c.-7+641T>C	LOC129933677, MCFD2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259638	NM_020458.4(TTC7A):c.518-124C>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250809	NM_020458.4(TTC7A):c.-84C>A	MCFD2, TTC7A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1249964	NM_001171508.2(MCFD2):c.-6-7887G>C	TTC7A, MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239651	NM_020458.4(TTC7A):c.518-120del	LOC126806211, TTC7A	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1236835	NM_001171508.2(MCFD2):c.-6-7673C>T	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221998	NM_020458.4(TTC7A):c.518-315A>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209045	NM_001171508.2(MCFD2):c.-6-8078G>C	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1186583	NM_020458.4(TTC7A):c.518-88C>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1163793	NM_020458.4(TTC7A):c.568A>C (p.Thr190Pro)	LOC126806211, TTC7A (T156P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1160841	NM_020458.4(TTC7A):c.36G>A (p.Lys12=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1155290	NM_020458.4(TTC7A):c.162A>G (p.Ala54=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1148695	NM_020458.4(TTC7A):c.552C>T (p.Ala184=)	LOC126806211, TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1142637	NM_020458.4(TTC7A):c.558C>T (p.Arg186=)	LOC126806211, TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1109658	NM_020458.4(TTC7A):c.102G>C (p.Arg34=)	MCFD2, TTC7A (C7W)	Single nucleotide variant (synonymous variant +3 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1103419	NM_020458.4(TTC7A):c.627G>A (p.Val209=)	LOC126806211, TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1100433	NM_020458.4(TTC7A):c.518-4G>A	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
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 1069120	NM_020458.4(TTC7A):c.565del (p.Arg188_Leu189insTer)	LOC126806211, TTC7A	Deletion (nonsense +1 more)	Multiple gastrointestinal atresias	GPathogenic
Select item 1057166	NM_020458.4(TTC7A):c.101G>A (p.Arg34Gln)	MCFD2, TTC7A (R34Q +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1038645	NM_020458.4(TTC7A):c.569C>T (p.Thr190Ile)	LOC126806211, TTC7A (T190I +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1037180	NM_020458.4(TTC7A):c.12G>T (p.Lys4Asn)	MCFD2, TTC7A (K4N)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1025381	NM_020458.4(TTC7A):c.29A>T (p.Tyr10Phe)	TTC7A, MCFD2 (Y10F)	Single nucleotide variant (missense variant +3 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1011882	NM_020458.4(TTC7A):c.61C>G (p.Arg21Gly)	MCFD2, TTC7A (R21G +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1007608	NM_020458.4(TTC7A):c.61C>T (p.Arg21Cys)	MCFD2, TTC7A (R21C +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1007313	NM_020458.4(TTC7A):c.44G>C (p.Ser15Thr)	MCFD2, TTC7A (L27V +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1006417	NM_020458.4(TTC7A):c.607G>A (p.Ala203Thr)	LOC126806211, TTC7A (A169T +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1001463	NM_020458.4(TTC7A):c.518G>A (p.Gly173Asp)	LOC126806211, TTC7A (G139D +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 996288	NM_020458.4(TTC7A):c.138dup (p.Asn47Ter)	MCFD2, TTC7A (N47*)	Duplication (nonsense +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 988519	NM_020458.4(TTC7A):c.76dup (p.Trp26fs)	MCFD2, TTC7A (W17fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 969448	NM_020458.4(TTC7A):c.148G>C (p.Gly50Arg)	MCFD2, TTC7A (G50R)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 947792	NM_020458.4(TTC7A):c.154C>A (p.Pro52Thr)	MCFD2, TTC7A (P52T)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 947583	NM_020458.4(TTC7A):c.562C>T (p.Arg188Cys)	LOC126806211, TTC7A (R188C +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 931205	NM_020458.4(TTC7A):c.764+5G>A	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely pathogenic
Select item 864019	NM_020458.4(TTC7A):c.635A>C (p.Gln212Pro)	LOC126806211, TTC7A (Q212P +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 859169	NM_020458.4(TTC7A):c.530A>G (p.Glu177Gly)	LOC126806211, TTC7A (E177G +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 856340	NM_020458.4(TTC7A):c.89C>T (p.Pro30Leu)	MCFD2, TTC7A (G12S +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 849872	NM_020458.4(TTC7A):c.578A>T (p.Glu193Val)	LOC126806211, TTC7A (E159V +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance

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