ClinVar for Gene (Select 7866) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3285404	NM_006764.5(IFRD2):c.759A>T (p.Gln253His)	IFRD2 (Q253H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3285402	NM_006764.5(IFRD2):c.1076T>C (p.Met359Thr)	IFRD2 (M359T)	Single nucleotide variant (missense 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 3285400	NM_006764.5(IFRD2):c.1298G>A (p.Arg433His)	IFRD2 (R433H)	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 3285398	NM_006764.5(IFRD2):c.1165C>T (p.Leu389Phe)	IFRD2 (L389F)	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 3285396	NM_006764.5(IFRD2):c.1130C>T (p.Ser377Leu)	IFRD2 (S377L)	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 3108343	NM_006764.5(IFRD2):c.-122G>T	IFRD2	Single nucleotide variant (5 prime UTR 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 3108341	NM_006764.5(IFRD2):c.115G>A (p.Glu39Lys)	IFRD2 (E39K)	Single nucleotide variant (missense variant)	not specified	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 3108338	NM_006764.5(IFRD2):c.898T>C (p.Tyr300His)	IFRD2 (Y300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108337	NM_006764.5(IFRD2):c.-92T>C	IFRD2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 2607833	NM_006764.5(IFRD2):c.644T>A (p.Phe215Tyr)	IFRD2 (F215Y)	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 2606060	NM_006764.5(IFRD2):c.790C>T (p.Arg264Trp)	IFRD2 (R264W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2592684	NM_006764.5(IFRD2):c.427G>A (p.Gly143Ser)	IFRD2 (G143S)	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 2569935	NM_006764.5(IFRD2):c.879C>A (p.Asp293Glu)	IFRD2 (D293E)	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 2524429	NM_006764.5(IFRD2):c.1156A>G (p.Asn386Asp)	IFRD2 (N386D)	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 2479310	NM_006764.5(IFRD2):c.1238G>T (p.Arg413Leu)	IFRD2 (R413L)	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 2461608	NM_006764.5(IFRD2):c.-11C>G	IFRD2, LOC129936788	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	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 2372534	NM_006764.5(IFRD2):c.346C>T (p.Arg116Cys)	IFRD2 (R116C)	Single nucleotide variant (missense 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 2329475	NM_006764.5(IFRD2):c.955A>G (p.Lys319Glu)	IFRD2 (K319E)	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 2323155	NM_006764.5(IFRD2):c.-39G>A	IFRD2, LOC129936788	Single nucleotide variant (5 prime UTR 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 2315800	NM_006764.5(IFRD2):c.347G>A (p.Arg116His)	IFRD2 (R116H)	Single nucleotide variant (missense 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 2291488	NM_006764.5(IFRD2):c.65G>A (p.Arg22Gln)	IFRD2 (R22Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2276432	NM_006764.5(IFRD2):c.-141C>A	IFRD2	Single nucleotide variant (5 prime UTR 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 2244021	NM_006764.5(IFRD2):c.5C>G (p.Pro2Arg)	IFRD2, LOC129936788 (P2R)	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 2214141	NM_006764.5(IFRD2):c.641G>A (p.Arg214Gln)	IFRD2 (R214Q)	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 2206660	NM_006764.5(IFRD2):c.-123C>A	IFRD2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1301689	NM_006764.5(IFRD2):c.47G>A (p.Arg16His)	IFRD2, LOC129936788 (R16H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 771350	NM_006764.5(IFRD2):c.237G>C (p.Glu79Asp)	IFRD2 (E143D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 221434	GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3	CACNA2D2, CYB561D2 +13 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 63