ClinVar for Gene (Select 90411) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3124262	NM_139279.6(MCFD2):c.367G>T (p.Gly123Cys)	MCFD2 (G104C +2 more)	Single nucleotide variant (missense variant)	not specified	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 3051568	NM_139279.6(MCFD2):c.69C>T (p.Gly23=)	MCFD2	Single nucleotide variant (synonymous variant +1 more)	MCFD2-related condition	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 2819608	NM_020458.4(TTC7A):c.176del (p.Pro59fs)	MCFD2, TTC7A (P59fs)	Deletion (frameshift variant +2 more)	Multiple gastrointestinal atresias	GPathogenic
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 2650875	NM_001171506.2(MCFD2):c.-190del	LOC129933675, MCFD2	Deletion (intron variant +1 more)	not provided	GBenign
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 2593430	NM_139279.6(MCFD2):c.436C>A (p.Gln146Lys)	MCFD2 (Q94K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568417	NM_139279.6(MCFD2):c.358A>G (p.Ile120Val)	MCFD2 (I120V +2 more)	Single nucleotide variant (missense variant)	not specified	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)	MCFD2, TTC7A (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 2486090	NM_139279.6(MCFD2):c.106C>T (p.Pro36Ser)	MCFD2 (P36S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479949	NM_139279.6(MCFD2):c.301C>T (p.His101Tyr)	MCFD2 (H49Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466647	NM_139279.6(MCFD2):c.131A>G (p.Asn44Ser)	MCFD2 (N44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426557	NC_000002.11:g.(?_47132602)_(47206066_?)dup	MCFD2, TTC7A	Duplication	Multiple gastrointestinal atresias	GUncertain significance
Select item 2426556	NC_000002.11:g.(?_47132602)_(47177685_?)dup	MCFD2, TTC7A	Duplication	Multiple gastrointestinal atresias	GUncertain significance
Select item 2426554	NC_000002.11:g.(?_47132602)_(47206066_?)del	MCFD2, TTC7A	Deletion	Multiple gastrointestinal atresias	GPathogenic
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2340497	NM_139279.6(MCFD2):c.67G>A (p.Gly23Ser)	MCFD2 (G23S)	Single nucleotide variant (missense variant +1 more)	not specified	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 2255340	NM_139279.6(MCFD2):c.14C>G (p.Ser5Cys)	MCFD2 (S5C)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 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 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 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1678372	NM_001171508.2(MCFD2):c.-6-8025G>A	MCFD2, TTC7A (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 1544150	NM_020458.4(TTC7A):c.94C>T (p.Leu32=)	MCFD2, TTC7A (S10N)	Single nucleotide variant (synonymous variant +3 more)	Multiple gastrointestinal atresias	GLikely benign
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)	MCFD2, TTC7A (H25Y +1 more)	Single nucleotide variant (missense variant +3 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 1437772	NM_020458.4(TTC7A):c.52G>C (p.Glu18Gln)	MCFD2, TTC7A (E18Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	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)	TTC7A, MCFD2 (P42A)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
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 1293880	NM_139279.6(MCFD2):c.-6-324_-6-323del	MCFD2	Deletion (intron variant)	not provided	GBenign
Select item 1293874	NM_139279.6(MCFD2):c.149+183A>G	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287394	NM_139279.6(MCFD2):c.310-212C>A	MCFD2	Single nucleotide variant (intron variant)	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	TTC7A, MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283880	NM_139279.6(MCFD2):c.310-322A>G	MCFD2	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 1275457	NM_139279.6(MCFD2):c.310-121_310-119dup	MCFD2	Duplication (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 1269515	NM_139279.6(MCFD2):c.309+291C>G	MCFD2	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 1267359	NM_139279.6(MCFD2):c.310-121dup	MCFD2	Duplication (intron variant)	not provided	GBenign
Select item 1264585	NM_139279.6(MCFD2):c.310-123C>T	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262009	NM_139279.6(MCFD2):c.150-138T>C	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261327	NM_139279.6(MCFD2):c.309+45C>T	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261113	NM_139279.6(MCFD2):c.310-104_310-102del	MCFD2	Deletion (intron variant)	not provided	GBenign
Select item 1260014	NM_139279.6(MCFD2):c.-6-301G>T	MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257752	NM_139279.6(MCFD2):c.150-296del	MCFD2	Deletion (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	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247953	NM_139279.6(MCFD2):c.310-102del	MCFD2	Deletion (intron variant)	not provided	GBenign
Select item 1236835	NM_001171508.2(MCFD2):c.-6-7673C>T	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219190	NM_139279.6(MCFD2):c.149+258C>A	MCFD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1194433	NM_139279.6(MCFD2):c.310-103_310-102del	MCFD2	Deletion (intron variant)	not provided	GLikely benign
Select item 1190708	NM_139279.6(MCFD2):c.310-59G>C	MCFD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180436	NC_000002.12:g.46722010_46985532dup	LOC129933679, LOC129933680 +19 more	Duplication	not specified	Gnot provided
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 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 1073084	NC_000002.11:g.(?_47168661)_(47238594_?)del	MCFD2, TTC7A	Deletion	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 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)	MCFD2, TTC7A (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 996288	NM_020458.4(TTC7A):c.138dup (p.Asn47Ter)	MCFD2, TTC7A (N47*)	Duplication (nonsense +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 988852	NM_139279.6(MCFD2):c.364G>A (p.Asp122Asn)	MCFD2 (D103N +2 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GLikely pathogenic
Select item 988519	NM_020458.4(TTC7A):c.76dup (p.Trp26fs)	TTC7A, MCFD2 (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 (5 prime UTR variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 899218	NM_139279.6(MCFD2):c.*79A>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899158	NM_139279.6(MCFD2):c.*1059C>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899157	NM_139279.6(MCFD2):c.*1079C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899156	NM_139279.6(MCFD2):c.*1124G>A	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GBenign
Select item 899155	NM_139279.6(MCFD2):c.*1151G>C	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899154	NM_139279.6(MCFD2):c.*1187C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899099	NM_139279.6(MCFD2):c.*2056T>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899098	NM_139279.6(MCFD2):c.*2106T>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 899097	NM_139279.6(MCFD2):c.*2128C>T	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance
Select item 898103	NM_139279.6(MCFD2):c.*217T>G	MCFD2	Single nucleotide variant (3 prime UTR variant)	Factor 5 and Factor VIII, combined deficiency of, 2	GUncertain significance

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