MED24[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 154398	GRCh38/hg38 17q21.1(chr17:39876786-40048205)x1	CSF3, GSDMA +15 more	Copy number loss	See cases	GUncertain significance
Select item 2254274	NM_014815.4(MED24):c.2912C>T (p.Thr971Met)	MED24 (T958M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1266811	NM_014815.4(MED24):c.2886C>T (p.Ser962=)	MED24	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768878	NM_014815.4(MED24):c.2853+7A>G	MED24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2601607	NM_014815.4(MED24):c.2841G>A (p.Met947Ile)	MED24 (M947I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339956	NM_014815.4(MED24):c.2819G>A (p.Arg940His)	MED24 (R940H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553890	NM_014815.4(MED24):c.2743C>T (p.Arg915Cys)	MED24 (R934C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408274	NM_014815.4(MED24):c.2680C>T (p.Arg894Trp)	MED24 (R894W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403556	NM_014815.4(MED24):c.2615C>T (p.Ser872Leu)	MED24 (S891L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516671	NM_014815.4(MED24):c.2599G>A (p.Asp867Asn)	MED24 (D854N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283770	NM_014815.4(MED24):c.2574G>A (p.Met858Ile)	MED24 (M877I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459867	NM_014815.4(MED24):c.2564C>T (p.Ser855Leu)	MED24 (S842L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217785	NM_014815.4(MED24):c.2510G>A (p.Arg837His)	MED24 (R856H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355578	NM_014815.4(MED24):c.2483C>T (p.Ala828Val)	MED24 (A828V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514539	NM_014815.4(MED24):c.2414C>T (p.Pro805Leu)	MED24 (P805L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523757	NM_014815.4(MED24):c.2389A>G (p.Lys797Glu)	MED24 (K797E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311558	NM_014815.4(MED24):c.2320C>A (p.Leu774Met)	MED24 (L761M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 599496	NM_014815.4(MED24):c.2288G>A (p.Arg763Gln)	MED24 (R763Q +2 more)	Single nucleotide variant (missense variant +1 more)	Short stature	GLikely pathogenic
Select item 2295348	NM_014815.4(MED24):c.2287C>T (p.Arg763Trp)	MED24 (R763W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357012	NM_014815.4(MED24):c.2269C>G (p.Arg757Gly)	MED24 (R744G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545272	NM_014815.4(MED24):c.2185A>T (p.Ile729Phe)	MED24 (I716F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614033	NM_014815.4(MED24):c.2179C>T (p.Arg727Cys)	MED24 (R714C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1221841	NM_014815.4(MED24):c.2142T>C (p.Ile714=)	MED24	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2607303	NM_014815.4(MED24):c.2108C>T (p.Pro703Leu)	MED24 (P703L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531114	NM_014815.4(MED24):c.2029G>A (p.Val677Met)	MED24 (V664M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1233678	NM_014815.4(MED24):c.1986-19T>C	MED24	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2359507	NM_014815.4(MED24):c.1642C>T (p.Arg548Cys)	MED24 (R535C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519247	NM_014815.4(MED24):c.1397G>A (p.Arg466Gln)	MED24 (R485Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 599495	NM_014815.4(MED24):c.1247C>G (p.Thr416Ser)	MED24 (T416S +2 more)	Single nucleotide variant (missense variant +1 more)	Short stature	GLikely pathogenic
Select item 2369885	NM_014815.4(MED24):c.1238C>T (p.Ala413Val)	MED24 (A413V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218765	NM_014815.4(MED24):c.1160C>T (p.Ala387Val)	MED24 (A406V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595625	NM_014815.4(MED24):c.1138A>G (p.Asn380Asp)	MED24 (N380D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340470	NM_014815.4(MED24):c.779C>T (p.Thr260Met)	MED24 (T247M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227049	NM_014815.4(MED24):c.724C>T (p.Pro242Ser)	MED24 (P261S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597586	NM_014815.4(MED24):c.634C>T (p.Arg212Trp)	MED24 (R212W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473037	NM_014815.4(MED24):c.626C>T (p.Pro209Leu)	MED24 (P228L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 715694	NM_014815.4(MED24):c.610G>A (p.Ala204Thr)	MED24 (A191T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2213696	NM_014815.4(MED24):c.538A>G (p.Ile180Val)	MED24 (I167V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471557	NM_014815.4(MED24):c.352A>G (p.Ile118Val)	MED24 (I118V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211437	NM_014815.4(MED24):c.319C>T (p.Arg107Cys)	MED24 (R107C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689419	NM_014815.4(MED24):c.291G>C (p.Leu97Phe)	MED24 (L84F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475118	NM_014815.4(MED24):c.164C>T (p.Ser55Phe)	MED24 (S55F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347922	NM_014815.4(MED24):c.94C>A (p.Pro32Thr)	MED24 (P32T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569190	NM_014815.4(MED24):c.86A>G (p.Lys29Arg)	MED24 (K29R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 51