MTIF2[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 2257155	NM_002453.3(MTIF2):c.2123G>A (p.Arg708Lys)	MTIF2 (R465K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236899	NM_002453.3(MTIF2):c.2091T>A (p.Asp697Glu)	MTIF2 (D454E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290573	NM_002453.3(MTIF2):c.2070G>A (p.Met690Ile)	MTIF2 (M447I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215525	NM_002453.3(MTIF2):c.1924C>A (p.Pro642Thr)	MTIF2 (P399T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549515	NM_002453.3(MTIF2):c.1862A>G (p.His621Arg)	MTIF2 (H621R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215520	NM_002453.3(MTIF2):c.1802G>A (p.Arg601His)	MTIF2 (R601H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379347	NM_002453.3(MTIF2):c.1801C>T (p.Arg601Cys)	MTIF2 (R601C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215515	NM_002453.3(MTIF2):c.1797T>G (p.Ile599Met)	MTIF2 (I599M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547376	NM_002453.3(MTIF2):c.1777A>G (p.Ile593Val)	MTIF2 (I350V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256658	NM_002453.3(MTIF2):c.1681G>C (p.Val561Leu)	MTIF2 (V318L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296655	NM_002453.3(MTIF2):c.1627G>C (p.Glu543Gln)	MTIF2 (E543Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495996	NM_002453.3(MTIF2):c.1478G>A (p.Arg493Gln)	MTIF2 (R250Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358916	NM_002453.3(MTIF2):c.1478G>T (p.Arg493Leu)	MTIF2 (R250L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337586	NM_002453.3(MTIF2):c.1454T>C (p.Leu485Pro)	MTIF2 (L485P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459644	NM_002453.3(MTIF2):c.1439A>T (p.Lys480Met)	MTIF2 (K237M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362226	NM_002453.3(MTIF2):c.1433G>A (p.Arg478His)	MTIF2 (R478H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380826	NM_002453.3(MTIF2):c.1415A>C (p.Glu472Ala)	MTIF2 (E229A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525618	NM_002453.3(MTIF2):c.1394A>G (p.Glu465Gly)	MTIF2 (E222G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215485	NM_002453.3(MTIF2):c.1389A>G (p.Ile463Met)	MTIF2 (I220M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217109	NM_002453.3(MTIF2):c.1280C>T (p.Ala427Val)	MTIF2 (A184V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296652	NM_002453.3(MTIF2):c.1222G>A (p.Asp408Asn)	MTIF2 (D165N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479729	NM_002453.3(MTIF2):c.1221T>G (p.Ile407Met)	MTIF2 (I164M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274320	NM_002453.3(MTIF2):c.1190G>A (p.Arg397His)	MTIF2 (R154H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215475	NM_002453.3(MTIF2):c.1181C>T (p.Ala394Val)	MTIF2 (A394V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461744	NM_002453.3(MTIF2):c.1061C>T (p.Pro354Leu)	MTIF2 (P354L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409770	NM_002453.3(MTIF2):c.1021C>T (p.Leu341Phe)	MTIF2 (L341F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650945	NM_002453.3(MTIF2):c.1014A>G (p.Thr338=)	MTIF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548873	NM_002453.3(MTIF2):c.979A>G (p.Thr327Ala)	MTIF2 (T327A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467776	NM_002453.3(MTIF2):c.976C>T (p.Leu326Phe)	MTIF2 (L326F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 520564	NM_002453.3(MTIF2):c.899_909del (p.Val300fs)	MTIF2 (V300fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3215554	NM_002453.3(MTIF2):c.821A>G (p.Gln274Arg)	MTIF2 (Q274R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296654	NM_002453.3(MTIF2):c.797T>G (p.Met266Arg)	MTIF2 (M23R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509654	NM_002453.3(MTIF2):c.782C>G (p.Ala261Gly)	MTIF2 (A18G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462661	NM_002453.3(MTIF2):c.766G>A (p.Val256Ile)	MTIF2 (V13I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215549	NM_002453.3(MTIF2):c.751G>A (p.Val251Ile)	MTIF2 (V8I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215546	NM_002453.3(MTIF2):c.732G>C (p.Met244Ile)	MTIF2 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215542	NM_002453.3(MTIF2):c.716C>T (p.Ala239Val)	MTIF2 (A239V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487222	NM_002453.3(MTIF2):c.714T>G (p.His238Gln)	MTIF2 (H238Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215540	NM_002453.3(MTIF2):c.614T>C (p.Val205Ala)	MTIF2 (V205A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460066	NM_002453.3(MTIF2):c.581C>T (p.Thr194Met)	MTIF2 (T194M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 225013	NM_002453.3(MTIF2):c.573C>G (p.His191Gln)	MTIF2 (H191Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2255972	NM_002453.3(MTIF2):c.536G>C (p.Arg179Thr)	MTIF2 (R179T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619809	NM_002453.3(MTIF2):c.518C>T (p.Pro173Leu)	MTIF2 (P173L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296651	NM_002453.3(MTIF2):c.476T>G (p.Val159Gly)	MTIF2 (V159G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362250	NM_002453.3(MTIF2):c.424A>G (p.Ile142Val)	MTIF2 (I142V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205175	NM_002453.3(MTIF2):c.416A>T (p.Lys139Ile)	MTIF2 (K139I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296653	NM_002453.3(MTIF2):c.295A>G (p.Ile99Val)	MTIF2 (I99V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2251692	NM_002453.3(MTIF2):c.164C>G (p.Thr55Arg)	MTIF2 (T55R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211164	NM_002453.3(MTIF2):c.158G>T (p.Trp53Leu)	MTIF2 (W53L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296656	NM_002453.3(MTIF2):c.127G>A (p.Val43Met)	MTIF2 (V43M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423802	NC_000002.11:g.(?_55459961)_(55616042_?)dup	CCDC88A, MTIF2 +1 more	Duplication	not provided	GUncertain significance
Select item 2423801	NC_000002.11:g.(?_54278075)_(55549848_?)dup	ACYP2, C2orf73 +8 more	Duplication	not provided	GUncertain significance
Select item 2423800	NC_000002.11:g.(?_55459961)_(55566804_?)dup	CCDC88A, MTIF2 +1 more	Duplication	not provided	GUncertain significance
Select item 2423799	NC_000002.11:g.(?_55459961)_(55646215_?)dup	CCDC88A, MTIF2 +1 more	Duplication	not provided	GUncertain significance
Select item 1808076	GRCh37/hg19 2p16.1(chr2:55393367-55627759)x3	CCDC88A, CLHC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807595	GRCh37/hg19 2p16.2-16.1(chr2:54780778-55935168)x3	CCDC88A, CFAP36 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526729	GRCh37/hg19 2p16.2-16.1(chr2:54555290-55741543)	C2orf73, CCDC88A +6 more	Copy number gain	not specified	GUncertain significance
Select item 1340353	GRCh37/hg19 2p16.1(chr2:55365532-55475705)x1	CLHC1, MTIF2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814264	GRCh37/hg19 2p16.1(chr2:55365531-55475705)x1	CLHC1, RPS27A +1 more	Copy number loss	not provided	GUncertain significance
Select item 688252	GRCh37/hg19 2p16.1(chr2:55385346-55562517)x3	CCDC88A, CLHC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685467	GRCh37/hg19 2p16.1(chr2:55378531-55640033)x3	CCDC88A, CLHC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic

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Items: 71