ClinVar for Gene (Select 3475) - ClinVar

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

Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285395	NM_001550.4(IFRD1):c.1231A>G (p.Thr411Ala)	IFRD1 (T411A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285394	NM_001550.4(IFRD1):c.833A>G (p.Asp278Gly)	IFRD1 (D278G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285393	NM_001550.4(IFRD1):c.979C>T (p.Arg327Trp)	IFRD1 (R277W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108336	NM_001550.4(IFRD1):c.731C>A (p.Ser244Tyr)	IFRD1 (S194Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108335	NM_001550.4(IFRD1):c.730T>A (p.Ser244Thr)	IFRD1 (S194T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108334	NM_001550.4(IFRD1):c.652A>G (p.Ile218Val)	IFRD1 (I168V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108333	NM_001550.4(IFRD1):c.428G>A (p.Arg143His)	IFRD1 (R143H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108332	NM_001550.4(IFRD1):c.371T>C (p.Met124Thr)	IFRD1 (M74T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108331	NM_001550.4(IFRD1):c.285T>C (p.Ser95=)	IFRD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3108330	NM_001550.4(IFRD1):c.1232C>T (p.Thr411Met)	IFRD1 (T411M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108329	NM_001550.4(IFRD1):c.1214T>C (p.Val405Ala)	IFRD1 (V355A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108328	NM_001550.4(IFRD1):c.1211C>T (p.Pro404Leu)	IFRD1 (P354L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108327	NM_001550.4(IFRD1):c.1207C>T (p.Pro403Ser)	IFRD1 (P353S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108326	NM_001550.4(IFRD1):c.1055C>G (p.Pro352Arg)	IFRD1 (P352R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062952	GRCh37/hg19 7q31.1(chr7:111340222-113515460)x3	BMT2, DOCK4 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3041772	NM_001550.4(IFRD1):c.568-3dup	IFRD1	Duplication (intron variant)	IFRD1-related disorder	GLikely benign
Select item 2685262	GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)x1	TES, TFEC +20 more	Copy number loss	not provided	GPathogenic
Select item 2623460	NM_001550.4(IFRD1):c.1058C>T (p.Thr353Ile)	IFRD1 (T353I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616739	NM_001550.4(IFRD1):c.931T>A (p.Ser311Thr)	IFRD1 (S261T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607291	NM_001550.4(IFRD1):c.885A>T (p.Glu295Asp)	IFRD1 (E245D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602835	NM_001550.4(IFRD1):c.1247A>G (p.Lys416Arg)	IFRD1 (K366R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597589	NM_001550.4(IFRD1):c.7A>C (p.Lys3Gln)	IFRD1 (K3Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569308	NM_001550.4(IFRD1):c.976C>A (p.His326Asn)	IFRD1 (H276N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560029	NM_001550.4(IFRD1):c.901G>A (p.Glu301Lys)	IFRD1 (E251K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533152	NM_001550.4(IFRD1):c.947T>C (p.Leu316Pro)	IFRD1 (L266P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532427	NM_001550.4(IFRD1):c.956T>C (p.Leu319Ser)	IFRD1 (L319S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514524	NM_001550.4(IFRD1):c.191C>G (p.Ala64Gly)	IFRD1 (A64G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465551	NM_001550.4(IFRD1):c.1333G>A (p.Ala445Thr)	IFRD1 (A445T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381269	NM_001550.4(IFRD1):c.722A>C (p.His241Pro)	IFRD1 (H191P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355162	NM_001550.4(IFRD1):c.938C>T (p.Thr313Met)	IFRD1 (T263M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344491	NM_001550.4(IFRD1):c.1256G>A (p.Arg419His)	IFRD1 (R419H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323432	NM_001550.4(IFRD1):c.967G>A (p.Gly323Arg)	IFRD1 (G273R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295693	NM_001550.4(IFRD1):c.73G>A (p.Ala25Thr)	IFRD1 (A25T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2290817	NM_001550.4(IFRD1):c.142A>G (p.Ile48Val)	IFRD1 (I48V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1340162	GRCh37/hg19 7q31.1(chr7:111609961-113375421)x3	BMT2, DOCK4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1284865	NM_001550.4(IFRD1):c.200-14A>C	IFRD1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1284633	NM_001550.4(IFRD1):c.568-10T>A	IFRD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1284599	NM_001550.4(IFRD1):c.1242G>A (p.Thr414=)	IFRD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 1284576	NM_001550.4(IFRD1):c.568-4_568-3del	IFRD1	Deletion (intron variant)	not specified	GBenign
Select item 1284482	NM_001550.4(IFRD1):c.216T>C (p.Asp72=)	IFRD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 1284380	NM_001550.4(IFRD1):c.1047G>A (p.Arg349=)	IFRD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 1284350	NM_001550.4(IFRD1):c.828T>G (p.Ser276=)	IFRD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 1284337	NM_001550.4(IFRD1):c.568-12T>A	IFRD1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1284314	NM_001550.4(IFRD1):c.985A>G (p.Lys329Glu)	IFRD1 (K279E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 979638	GRCh37/hg19 7q31.1(chr7:111724684-112064238)x3	DOCK4, IFRD1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815018	GRCh37/hg19 7q31.1(chr7:109594999-113885203)x3	LSMEM1, BMT2 +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 774663	NM_001550.4(IFRD1):c.213T>A (p.Leu71=)	IFRD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 774132	NM_001550.4(IFRD1):c.1230A>G (p.Ala410=)	IFRD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 774131	NM_001550.4(IFRD1):c.39T>C (p.Gly13=)	IFRD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 713158	NM_001550.4(IFRD1):c.619-5A>G	IFRD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689016	GRCh37/hg19 7q31.1(chr7:109939104-113649529)x1	BMT2, DOCK4 +8 more	Copy number loss	not provided	GUncertain significance
Select item 688575	GRCh37/hg19 7q31.1(chr7:112092779-112333402)x3	IFRD1, LSMEM1	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686475	GRCh37/hg19 7q31.1(chr7:107786826-112356275)x1	DNAJB9, DOCK4 +9 more	Copy number loss	not provided	GUncertain significance
Select item 686057	GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1	ASZ1, BMT2 +34 more	Copy number loss	not provided	GPathogenic
Select item 637690	NM_001550.4(IFRD1):c.514A>G (p.Ile172Val)	IFRD1 (I172V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 635931	Single allele	BMT2, DOCK4 +7 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 545340	Single allele	DOCK4, DOCK4-AS1 +29 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443343	GRCh37/hg19 7q31.1(chr7:110322161-112423237)x3	DOCK4, IFRD1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442990	GRCh37/hg19 7q31.1(chr7:112041734-112326169)x1	IFRD1, LSMEM1	Copy number loss	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442638	GRCh37/hg19 7q31.1(chr7:111903631-112132722)x1	IFRD1, LSMEM1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 441861	GRCh37/hg19 7q31.1-31.2(chr7:111642645-115770275)x1	BMT2, DOCK4 +9 more	Copy number loss	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395475	GRCh37/hg19 7q31.1(chr7:111647224-112063278)x1	DOCK4, IFRD1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 218480	NM_001550.4(IFRD1):c.634C>G (p.Leu212Val)	IFRD1 (L212V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129999343, LOC129999344 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC123956263, LOC123956264 +4737 more	Copy number loss	See cases	GPathogenic
Select item 58927	GRCh38/hg38 7q31.1(chr7:112216116-112945352)x1	BMT2, IFRD1 +16 more	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 80