"GeneDx"[submitter] AND "IFITM5"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 1286019	NM_001025295.3(IFITM5):c.*277G>A	IFITM5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1220418	NM_001025295.3(IFITM5):c.*228C>G	IFITM5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1198895	NM_001025295.3(IFITM5):c.*203C>T	IFITM5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1236321	NM_001025295.3(IFITM5):c.*185G>A	IFITM5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1213547	NM_001025295.3(IFITM5):c.*145del	IFITM5	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 387521	NM_001025295.3(IFITM5):c.335C>G (p.Ala112Gly)	IFITM5 (A112G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185903	NM_001025295.3(IFITM5):c.298C>T (p.Leu100Phe)	IFITM5 (L100F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 506680	NM_001025295.3(IFITM5):c.278C>T (p.Thr93Met)	IFITM5 (T93M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2704259	NM_001025295.3(IFITM5):c.191G>A (p.Arg64Gln)	IFITM5, LOC130005046 (R64Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1222968	NM_001025295.3(IFITM5):c.187-45C>T	IFITM5, LOC130005046	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218246	NM_001025295.3(IFITM5):c.187-166C>T	IFITM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212247	NM_001025295.3(IFITM5):c.187-207T>C	IFITM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669653	NM_001025295.3(IFITM5):c.186+214C>G	IFITM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199878	NM_001025295.3(IFITM5):c.186+184C>T	IFITM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219070	NM_001025295.3(IFITM5):c.186+168G>A	IFITM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674990	NM_001025295.3(IFITM5):c.186+86G>T	IFITM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297442	NM_001025295.3(IFITM5):c.186+63dup	IFITM5	Duplication (intron variant)	not provided	GBenign
Select item 1249762	NM_001025295.3(IFITM5):c.186+43C>A	IFITM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679579	NM_001025295.3(IFITM5):c.186+19G>A	IFITM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 498868	NM_001025295.3(IFITM5):c.120G>A (p.Ser40=)	IFITM5	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 193132	NM_001025295.3(IFITM5):c.120G>T (p.Ser40=)	IFITM5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 183677	NM_001025295.3(IFITM5):c.119C>T (p.Ser40Leu)	IFITM5 (S40L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 5 +1 more	GPathogenic
Select item 284954	NM_001025295.3(IFITM5):c.117G>C (p.Trp39Cys)	IFITM5 (W39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1257062	NM_001025295.3(IFITM5):c.96G>A (p.Pro32=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768407	NM_001025295.3(IFITM5):c.91C>A (p.Pro31Thr)	IFITM5 (P31T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 513279	NM_001025295.3(IFITM5):c.87G>A (p.Pro29=)	IFITM5	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +2 more	GBenign/Likely benign
Select item 193131	NM_001025295.3(IFITM5):c.80G>C (p.Gly27Ala)	IFITM5 (G27A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 5 +2 more	GBenign
Select item 516297	NM_001025295.3(IFITM5):c.41C>T (p.Thr14Met)	IFITM5 (T14M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1310810	NM_001025295.3(IFITM5):c.39del (p.Thr14fs)	IFITM5 (T14fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1914960	NM_001025295.3(IFITM5):c.35C>T (p.Ala12Val)	IFITM5 (A12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202188	NM_001025295.3(IFITM5):c.21C>T (p.Arg7=)	IFITM5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1273689	NM_001025295.3(IFITM5):c.-3C>T	IFITM5	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 37143	NM_001025295.3(IFITM5):c.-14C>T	IFITM5, PGGHG	Single nucleotide variant (5 prime UTR variant)	Postmenopausal osteoporosis +3 more	GPathogenic
Select item 516291	NM_001025295.3(IFITM5):c.-27A>G	IFITM5	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 674885	NM_001025295.2(IFITM5):c.-96T>C	IFITM5	Single nucleotide variant	not provided	GBenign
Select item 1286092	NC_000011.10:g.299617G>A	IFITM5	Single nucleotide variant	not provided	GBenign
Select item 667613	NM_001025295.2(IFITM5):c.-229A>T	IFITM5	Single nucleotide variant	not provided	GBenign
Select item 1278438	NC_000011.10:g.299730dup	IFITM5	Duplication	not provided	GBenign
Select item 1212628	NC_000011.10:g.299744C>T	IFITM5	Single nucleotide variant	not provided	GLikely benign
Select item 667612	NM_001025295.2(IFITM5):c.-259C>T	IFITM5	Single nucleotide variant	not provided	GBenign
Select item 1203740	NC_000011.10:g.299871G>A	IFITM5	Single nucleotide variant	not provided	GLikely benign
Select item 253707	GRCh37/hg19 11p15.5(chr11:193142-299384)x3	RIC8A, PGGHG +7 more	Copy number gain	See cases	GUncertain significance

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Items: 44