"Ambry Genetics"[submitter] AND "IFRD2"[gene] - ClinVar

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

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2601924	NM_006764.5(IFRD2):c.1303C>T (p.Arg435Trp)	IFRD2 (R435W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285400	NM_006764.5(IFRD2):c.1298G>A (p.Arg433His)	IFRD2 (R433H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479310	NM_006764.5(IFRD2):c.1238G>T (p.Arg413Leu)	IFRD2 (R413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276731	NM_006764.5(IFRD2):c.1213G>T (p.Ala405Ser)	IFRD2 (A405S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326858	NM_006764.5(IFRD2):c.1174A>G (p.Ile392Val)	IFRD2 (I392V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590044	NM_006764.5(IFRD2):c.1166T>C (p.Leu389Pro)	IFRD2 (L389P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285398	NM_006764.5(IFRD2):c.1165C>T (p.Leu389Phe)	IFRD2 (L389F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524429	NM_006764.5(IFRD2):c.1156A>G (p.Asn386Asp)	IFRD2 (N386D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285396	NM_006764.5(IFRD2):c.1130C>T (p.Ser377Leu)	IFRD2 (S377L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285397	NM_006764.5(IFRD2):c.1080C>A (p.Asp360Glu)	IFRD2 (D360E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285402	NM_006764.5(IFRD2):c.1076T>C (p.Met359Thr)	IFRD2 (M359T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466902	NM_006764.5(IFRD2):c.1057G>A (p.Gly353Ser)	IFRD2 (G353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519891	NM_006764.5(IFRD2):c.980G>A (p.Arg327Gln)	IFRD2 (R327Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329475	NM_006764.5(IFRD2):c.955A>G (p.Lys319Glu)	IFRD2 (K319E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285399	NM_006764.5(IFRD2):c.901G>A (p.Glu301Lys)	IFRD2 (E301K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108338	NM_006764.5(IFRD2):c.898T>C (p.Tyr300His)	IFRD2 (Y300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569935	NM_006764.5(IFRD2):c.879C>A (p.Asp293Glu)	IFRD2 (D293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404257	NM_006764.5(IFRD2):c.835G>A (p.Ala279Thr)	IFRD2 (A279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606060	NM_006764.5(IFRD2):c.790C>T (p.Arg264Trp)	IFRD2 (R264W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285404	NM_006764.5(IFRD2):c.759A>T (p.Gln253His)	IFRD2 (Q253H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614471	NM_006764.5(IFRD2):c.697G>A (p.Gly233Ser)	IFRD2 (G233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223720	NM_006764.5(IFRD2):c.690C>G (p.Ser230Arg)	IFRD2 (S230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316012	NM_006764.5(IFRD2):c.671G>T (p.Ser224Ile)	IFRD2 (S224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607833	NM_006764.5(IFRD2):c.644T>A (p.Phe215Tyr)	IFRD2 (F215Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214141	NM_006764.5(IFRD2):c.641G>A (p.Arg214Gln)	IFRD2 (R214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108346	NM_006764.5(IFRD2):c.640C>T (p.Arg214Trp)	IFRD2 (R214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108345	NM_006764.5(IFRD2):c.577G>C (p.Val193Leu)	IFRD2 (V193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108344	NM_006764.5(IFRD2):c.532G>T (p.Ala178Ser)	IFRD2 (A178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592684	NM_006764.5(IFRD2):c.427G>A (p.Gly143Ser)	IFRD2 (G143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315800	NM_006764.5(IFRD2):c.347G>A (p.Arg116His)	IFRD2 (R116H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372534	NM_006764.5(IFRD2):c.346C>T (p.Arg116Cys)	IFRD2 (R116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249116	NM_006764.5(IFRD2):c.311C>T (p.Ala104Val)	IFRD2 (A104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285403	NM_006764.5(IFRD2):c.274C>T (p.Arg92Trp)	IFRD2 (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108342	NM_006764.5(IFRD2):c.253A>G (p.Thr85Ala)	IFRD2 (T85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285405	NM_006764.5(IFRD2):c.181G>A (p.Gly61Arg)	IFRD2 (G61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211282	NM_006764.5(IFRD2):c.179G>C (p.Gly60Ala)	IFRD2 (G60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607534	NM_006764.5(IFRD2):c.147C>G (p.Ser49Arg)	IFRD2 (S49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530774	NM_006764.5(IFRD2):c.122G>A (p.Arg41His)	IFRD2 (R41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108341	NM_006764.5(IFRD2):c.115G>A (p.Glu39Lys)	IFRD2 (E39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291488	NM_006764.5(IFRD2):c.65G>A (p.Arg22Gln)	IFRD2 (R22Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1301689	NM_006764.5(IFRD2):c.47G>A (p.Arg16His)	IFRD2, LOC129936788 (R16H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3108339	NM_006764.5(IFRD2):c.38G>A (p.Gly13Asp)	IFRD2, LOC129936788 (G13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244021	NM_006764.5(IFRD2):c.5C>G (p.Pro2Arg)	IFRD2, LOC129936788 (P2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461608	NM_006764.5(IFRD2):c.-11C>G	IFRD2, LOC129936788	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2368607	NM_006764.5(IFRD2):c.-26C>T	IFRD2, LOC129936788	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2323155	NM_006764.5(IFRD2):c.-39G>A	IFRD2, LOC129936788	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3285401	NM_006764.5(IFRD2):c.-42A>G	IFRD2, LOC129936788	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3108337	NM_006764.5(IFRD2):c.-92T>C	IFRD2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3108343	NM_006764.5(IFRD2):c.-122G>T	IFRD2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2206660	NM_006764.5(IFRD2):c.-123C>A	IFRD2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2310743	NM_006764.5(IFRD2):c.-138G>A	IFRD2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2276432	NM_006764.5(IFRD2):c.-141C>A	IFRD2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance

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: 52