Related gene-specific medical variations for Gene (Select 104472848) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373358	NM_000875.5(IGF1R):c.74T>G (p.Leu25Arg)	IGF1R, IRAIN (L25R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3009960	NM_000875.5(IGF1R):c.48C>A (p.Leu16=)	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2955653	NM_000875.5(IGF1R):c.94+10_94+11del	IGF1R, IRAIN	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2893790	NM_000875.5(IGF1R):c.55C>T (p.Leu19Phe)	IGF1R, IRAIN (L19F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2875102	NM_000875.5(IGF1R):c.45del (p.Leu16fs)	IGF1R, IRAIN (L16fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2805446	NM_000875.5(IGF1R):c.60C>T (p.Ser20=)	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2746030	NM_000875.5(IGF1R):c.94+3_94+6del	IGF1R, IRAIN	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2664702	NM_000875.5(IGF1R):c.2T>A (p.Met1Lys)	IGF1R, IRAIN (M1K)	Single nucleotide variant (non-coding transcript variant +2 more)	Growth delay due to insulin-like growth factor I resistance	GLikely pathogenic
Select item 2604285	NM_000875.5(IGF1R):c.35C>G (p.Ser12Trp)	IGF1R, IRAIN (S12W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547255	NM_000875.5(IGF1R):c.59C>T (p.Ser20Phe)	IGF1R, IRAIN (S20F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2320083	NM_000875.5(IGF1R):c.71C>G (p.Ser24Trp)	IGF1R, IRAIN (S24W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1946349	NM_000875.5(IGF1R):c.80C>T (p.Pro27Leu)	IGF1R, IRAIN (P27L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1935292	NM_000875.5(IGF1R):c.28C>T (p.Pro10Ser)	IGF1R, IRAIN (P10S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1901336	NM_000875.5(IGF1R):c.94+15G>A	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1683267	NM_000875.5(IGF1R):c.-4A>G	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1213041	NM_000875.5(IGF1R):c.16G>A (p.Gly6Arg)	IGF1R, IRAIN (G6R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1064824	NM_000875.5(IGF1R):c.77G>A (p.Trp26Ter)	IGF1R, IRAIN (W26*)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 976309	NM_000875.5(IGF1R):c.43G>A (p.Gly15Arg)	IGF1R, IRAIN (G15R)	Single nucleotide variant (non-coding transcript variant +1 more)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 973337	NM_000875.5(IGF1R):c.71C>T (p.Ser24Leu)	IGF1R, IRAIN (S24L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 739870	NM_000875.5(IGF1R):c.94+7A>G	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 739422	NM_000875.5(IGF1R):c.75C>T (p.Leu25=)	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 718201	NM_000875.5(IGF1R):c.15C>T (p.Ser5=)	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 501270	NM_000875.5(IGF1R):c.84G>A (p.Thr28=)	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 369106	NM_000875.5(IGF1R):c.-51T>C	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	Growth delay due to insulin-like growth factor I resistance +1 more	GBenign
Select item 369105	NM_000875.5(IGF1R):c.-41_-33del	IGF1R, IRAIN	Deletion (5 prime UTR variant +1 more)	Growth delay due to insulin-like growth factor I resistance	GBenign/Likely benign
Select item 317439	NM_000875.5(IGF1R):c.94+14C>T	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	Growth delay due to insulin-like growth factor I resistance +1 more	GBenign
Select item 317438	NM_000875.5(IGF1R):c.-43T>C	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance

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Links from Gene

Items: 27