Related gene-specific medical variations for Gene (Select 9445) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2966510	NM_021999.5(ITM2B):c.105G>T (p.Ala35=)	ITM2B, LOC130009752	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871974	NM_021999.5(ITM2B):c.43G>A (p.Ala15Thr)	ITM2B, LOC130009751 (A15T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862936	NM_021999.5(ITM2B):c.116A>G (p.Lys39Arg)	ITM2B, LOC130009752 (K39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2624274	NM_021999.5(ITM2B):c.65G>A (p.Ser22Asn)	ITM2B, LOC130009751 (S22N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192822	NM_021999.5(ITM2B):c.23C>A (p.Ser8Tyr)	ITM2B, LOC130009751 (S8Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140151	NM_021999.5(ITM2B):c.20A>G (p.Asn7Ser)	ITM2B, LOC130009751 (N7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112989	NM_021999.5(ITM2B):c.117+1G>A	ITM2B, LOC130009752	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2019298	NM_021999.5(ITM2B):c.117+7G>T	ITM2B, LOC130009752	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996347	NM_021999.5(ITM2B):c.100G>A (p.Val34Ile)	ITM2B, LOC130009752 (V34I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968092	NM_021999.5(ITM2B):c.39G>A (p.Lys13=)	ITM2B, LOC130009751	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932374	NM_021999.5(ITM2B):c.117+19C>G	ITM2B, LOC130009752	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932284	NM_021999.5(ITM2B):c.117+16G>T	ITM2B, LOC130009752	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931659	NM_021999.5(ITM2B):c.59C>T (p.Pro20Leu)	ITM2B, LOC130009751 (P20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917495	NM_021999.5(ITM2B):c.78G>A (p.Ala26=)	ITM2B, LOC130009751	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906312	NM_021999.5(ITM2B):c.93C>T (p.Pro31=)	ITM2B, LOC130009752	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904100	NM_021999.5(ITM2B):c.42G>A (p.Glu14=)	ITM2B, LOC130009751	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1723484	NM_021999.5(ITM2B):c.48G>C (p.Lys16Asn)	ITM2B, LOC130009751 (K16N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645444	NM_021999.5(ITM2B):c.117+13G>A	ITM2B, LOC130009752	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546959	NM_021999.5(ITM2B):c.15G>C (p.Thr5=)	ITM2B, LOC130009751	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400286	NM_021999.5(ITM2B):c.55G>A (p.Glu19Lys)	ITM2B, LOC130009751 (E19K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1353049	NM_021999.5(ITM2B):c.92C>G (p.Pro31Arg)	ITM2B, LOC130009752 (P31R)	Single nucleotide variant (missense variant)	ABri amyloidosis +3 more	GUncertain significance
Select item 1210019	NM_021999.5(ITM2B):c.81C>T (p.Leu27=)	ITM2B, LOC130009751	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1050169	NM_021999.5(ITM2B):c.94G>T (p.Asp32Tyr)	ITM2B, LOC130009752 (D32Y)	Single nucleotide variant (missense variant)	ITM2B-related condition +1 more	GUncertain significance
Select item 975900	NM_021999.5(ITM2B):c.50A>G (p.Lys17Arg)	ITM2B, LOC130009751 (K17R)	Single nucleotide variant (missense variant)	ADan amyloidosis	GUncertain significance
Select item 718098	NM_021999.5(ITM2B):c.92C>A (p.Pro31His)	ITM2B, LOC130009752 (P31H)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 25