FITM2[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 1272963	NM_001080472.4(FITM2):c.*131T>C	FITM2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2341773	NM_001080472.4(FITM2):c.774T>G (p.Asp258Glu)	FITM2 (D258E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049130	NM_001080472.4(FITM2):c.773A>G (p.Asp258Gly)	FITM2 (D258G)	Single nucleotide variant (missense variant)	FITM2-related disorder +1 more	GLikely benign
Select item 3048469	NM_001080472.4(FITM2):c.750C>T (p.Ser250=)	FITM2	Single nucleotide variant (synonymous variant)	FITM2-related disorder	GLikely benign
Select item 2355710	NM_001080472.4(FITM2):c.716C>T (p.Pro239Leu)	FITM2 (P239L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 692232	NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg)	FITM2 (G232R)	Single nucleotide variant (missense variant)	Siddiqi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 692231	NM_001080472.4(FITM2):c.652C>T (p.Gln218Ter)	FITM2 (Q218*)	Single nucleotide variant (nonsense)	Siddiqi syndrome	GPathogenic
Select item 2441981	NM_001080472.4(FITM2):c.576del (p.Val193fs)	FITM2 (V193fs)	Deletion (frameshift variant)	Siddiqi syndrome	GLikely pathogenic
Select item 2652346	NM_001080472.4(FITM2):c.558C>T (p.Thr186=)	FITM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2208966	NM_001080472.4(FITM2):c.487G>A (p.Ala163Thr)	FITM2 (A163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369827	NM_001080472.4(FITM2):c.388G>T (p.Val130Phe)	FITM2 (V130F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314720	NM_001080472.4(FITM2):c.382G>A (p.Glu128Lys)	FITM2 (E128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1695015	NM_001080472.4(FITM2):c.354G>A (p.Thr118=)	FITM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1697128	NM_001080472.4(FITM2):c.353C>T (p.Thr118Met)	FITM2 (T118M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3038894	NM_001080472.4(FITM2):c.291G>A (p.Leu97=)	FITM2	Single nucleotide variant (synonymous variant)	FITM2-related disorder	GBenign
Select item 3047868	NM_001080472.4(FITM2):c.252C>T (p.Thr84=)	FITM2	Single nucleotide variant (synonymous variant)	FITM2-related disorder	GLikely benign
Select item 916461	NM_001080472.4(FITM2):c.200G>A (p.Trp67Ter)	FITM2 (W67*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2354605	NM_001080472.4(FITM2):c.190G>T (p.Ala64Ser)	FITM2 (A64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678796	NM_001080472.4(FITM2):c.174-198TAAA[7]	FITM2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1262098	NM_001080472.4(FITM2):c.173+190A>C	FITM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712064	NM_001080472.4(FITM2):c.173+34C>G	FITM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303579	NM_001080472.4(FITM2):c.146T>A (p.Leu49His)	FITM2 (L49H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3034887	NM_001080472.4(FITM2):c.116A>G (p.Lys39Arg)	FITM2 (K39R)	Single nucleotide variant (missense variant)	FITM2-related disorder	GBenign
Select item 2225593	NM_001080472.4(FITM2):c.112C>G (p.Leu38Val)	FITM2 (L38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1320649	NM_001080472.4(FITM2):c.96G>A (p.Met32Ile)	FITM2 (M32I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2310297	NM_001080472.4(FITM2):c.50G>A (p.Arg17Gln)	FITM2 (R17Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 692230	NM_001080472.4(FITM2):c.39dup (p.Thr14fs)	FITM2 (T14fs)	Duplication (frameshift variant)	Siddiqi syndrome	GPathogenic
Select item 2166470	NM_001080472.4(FITM2):c.21C>A (p.Cys7Ter)	FITM2 (C7*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 692229	NM_001080472.4(FITM2):c.4G>T (p.Glu2Ter)	FITM2 (E2*)	Single nucleotide variant (nonsense)	Siddiqi syndrome	GPathogenic
Select item 2441926	NM_001080472.4(FITM2):c.1A>T (p.Met1Leu)	FITM2 (M1L)	Single nucleotide variant (missense variant +1 more)	Siddiqi syndrome	GLikely pathogenic
Select item 987439	NM_001080472.4(FITM2):c.1A>G (p.Met1Val)	FITM2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1278764	NC_000020.11:g.44311245T>A	FITM2	Single nucleotide variant	not provided	GBenign
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 979733	GRCh37/hg19 20q13.12(chr20:42778133-43079191)x1	R3HDML, OSER1 +4 more	Copy number loss	not provided	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 493564	GRCh37/hg19 20q13.12(chr20:42818852-43180449)x3	PKIG, R3HDML +6 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic

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Items: 40