"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MCFD2"[ - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1037180	NM_020458.4(TTC7A):c.12G>T (p.Lys4Asn)	TTC7A, MCFD2 (K4N)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 528468	NM_020458.4(TTC7A):c.12G>A (p.Lys4=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
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 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 808739	NM_020458.4(TTC7A):c.27C>T (p.Ser9=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias +1 more	GLikely benign
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 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 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 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 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 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 +1 more	GUncertain significance
Select item 391837	NM_020458.4(TTC7A):c.59G>A (p.Cys20Tyr)	MCFD2, TTC7A (C20Y +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	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)	Inborn genetic diseases +1 more	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 660088	NM_020458.4(TTC7A):c.71G>C (p.Gly24Ala)	TTC7A, MCFD2 (G24A +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias +1 more	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 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 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 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 791014	NM_020458.4(TTC7A):c.94C>G (p.Leu32Val)	MCFD2, TTC7A (L32V +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GBenign
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 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 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 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 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 639812	NM_020458.4(TTC7A):c.113C>T (p.Thr38Met)	MCFD2, TTC7A (V4I +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 528466	NM_020458.4(TTC7A):c.132C>T (p.Gly44=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
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 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 626201	NM_020458.4(TTC7A):c.142A>G (p.Arg48Gly)	MCFD2, TTC7A (R48G)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias +2 more	GUncertain significance
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 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 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 2145713	NM_020458.4(TTC7A):c.154C>T (p.Pro52Ser)	TTC7A, MCFD2 (P52S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 657424	NM_020458.4(TTC7A):c.154C>G (p.Pro52Ala)	MCFD2, TTC7A (P52A)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 721225	NM_020458.4(TTC7A):c.158G>C (p.Ser53Thr)	MCFD2, TTC7A (S53T)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias +1 more	GBenign
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 847046	NM_020458.4(TTC7A):c.163G>A (p.Ala55Thr)	MCFD2, TTC7A (A55T)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 641829	NM_020458.4(TTC7A):c.169A>G (p.Thr57Ala)	MCFD2, TTC7A (T57A)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
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 528474	NM_020458.4(TTC7A):c.176C>G (p.Pro59Arg)	MCFD2, TTC7A (P59R)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias +2 more	GConflicting classifications of pathogenicity
Select item 1720676	NM_020458.4(TTC7A):c.180C>G (p.Asp60Glu)	TTC7A, MCFD2 (D60E)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	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 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	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1073084	NC_000002.11:g.(?_47168661)_(47238594_?)del	MCFD2, TTC7A	Deletion	Multiple gastrointestinal atresias	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	HNRNPLL, KCNG3 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51