17798[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC132090296, LOC132090297 +1422 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 2329294	NM_019589.3(YLPM1):c.23A>G (p.Tyr8Cys)	YLPM1 (Y8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191608	NM_019589.3(YLPM1):c.52C>T (p.Pro18Ser)	YLPM1 (P18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560020	NM_019589.3(YLPM1):c.53C>G (p.Pro18Arg)	YLPM1 (P18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272352	NM_019589.3(YLPM1):c.56T>C (p.Val19Ala)	YLPM1 (V19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333700	NM_019589.3(YLPM1):c.79C>G (p.Leu27Val)	YLPM1 (L27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326510	NM_019589.3(YLPM1):c.110C>G (p.Ser37Trp)	YLPM1 (S37W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328109	NM_019589.3(YLPM1):c.241C>T (p.Leu81Phe)	YLPM1 (L81F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191590	NM_019589.3(YLPM1):c.265C>T (p.Pro89Ser)	YLPM1 (P89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269780	NM_019589.3(YLPM1):c.281G>A (p.Gly94Glu)	YLPM1 (G94E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357488	NM_019589.3(YLPM1):c.379A>C (p.Met127Leu)	YLPM1 (M127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481921	NM_019589.3(YLPM1):c.394C>G (p.Arg132Gly)	YLPM1 (R132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270634	NM_019589.3(YLPM1):c.399C>G (p.Asp133Glu)	YLPM1 (D133E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191601	NM_019589.3(YLPM1):c.421A>G (p.Met141Val)	YLPM1 (M141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289144	NM_019589.3(YLPM1):c.439C>G (p.Pro147Ala)	YLPM1 (P147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535799	NM_019589.3(YLPM1):c.440C>G (p.Pro147Arg)	YLPM1 (P147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770997	NM_019589.3(YLPM1):c.462T>A (p.Pro154=)	YLPM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2245024	NM_019589.3(YLPM1):c.470A>G (p.Tyr157Cys)	YLPM1 (Y157C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318867	NM_019589.3(YLPM1):c.474G>A (p.Met158Ile)	YLPM1 (M158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333712	NM_019589.3(YLPM1):c.484C>G (p.Gln162Glu)	YLPM1 (Q162E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552024	NM_019589.3(YLPM1):c.493A>C (p.Met165Leu)	YLPM1 (M165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464352	NM_019589.3(YLPM1):c.496C>G (p.Pro166Ala)	YLPM1 (P166A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305141	NM_019589.3(YLPM1):c.497C>T (p.Pro166Leu)	YLPM1 (P166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333708	NM_019589.3(YLPM1):c.503C>T (p.Pro168Leu)	YLPM1 (P168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316123	NM_019589.3(YLPM1):c.517T>G (p.Ser173Ala)	YLPM1 (S173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287895	NM_019589.3(YLPM1):c.538T>C (p.Ser180Pro)	YLPM1 (S180P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292124	NM_019589.3(YLPM1):c.581C>T (p.Ser194Phe)	YLPM1 (S194F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191609	NM_019589.3(YLPM1):c.587C>T (p.Pro196Leu)	YLPM1 (P196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383114	NM_019589.3(YLPM1):c.617C>G (p.Ser206Cys)	YLPM1 (S206C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333711	NM_019589.3(YLPM1):c.673T>A (p.Leu225Met)	YLPM1 (L225M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394556	NM_019589.3(YLPM1):c.698C>T (p.Ser233Phe)	YLPM1 (S233F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300725	NM_019589.3(YLPM1):c.731T>G (p.Leu244Arg)	YLPM1 (L244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191611	NM_019589.3(YLPM1):c.760C>A (p.Pro254Thr)	YLPM1 (P254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343772	NM_019589.3(YLPM1):c.760C>G (p.Pro254Ala)	YLPM1 (P254A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191612	NM_019589.3(YLPM1):c.775A>G (p.Thr259Ala)	YLPM1 (T259A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760550	NM_019589.3(YLPM1):c.801T>C (p.Ser267=)	YLPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644371	NM_019589.3(YLPM1):c.939G>A (p.Leu313=)	YLPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2333217	NM_019589.3(YLPM1):c.949A>G (p.Lys317Glu)	YLPM1 (K317E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298993	NM_019589.3(YLPM1):c.971A>T (p.Lys324Met)	YLPM1 (K324M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251660	NM_019589.3(YLPM1):c.1036C>T (p.Pro346Ser)	YLPM1 (P346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409128	NM_019589.3(YLPM1):c.1094C>T (p.Pro365Leu)	YLPM1 (P365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529581	NM_019589.3(YLPM1):c.1195G>A (p.Gly399Ser)	YLPM1 (G399S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191575	NM_019589.3(YLPM1):c.1229C>G (p.Thr410Ser)	YLPM1 (T410S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191576	NM_019589.3(YLPM1):c.1250A>G (p.Gln417Arg)	YLPM1 (Q417R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191577	NM_019589.3(YLPM1):c.1286T>C (p.Ile429Thr)	YLPM1 (I429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616512	NM_019589.3(YLPM1):c.1339C>A (p.Gln447Lys)	YLPM1 (Q447K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720501	NM_019589.3(YLPM1):c.1355A>T (p.Tyr452Phe)	YLPM1 (Y452F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2282318	NM_019589.3(YLPM1):c.1361A>C (p.Glu454Ala)	YLPM1 (E454A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191578	NM_019589.3(YLPM1):c.1513A>G (p.Asn505Asp)	YLPM1 (N505D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614895	NM_019589.3(YLPM1):c.1514A>G (p.Asn505Ser)	YLPM1 (N505S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560312	NM_019589.3(YLPM1):c.1544C>T (p.Ser515Leu)	YLPM1 (S515L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522398	NM_019589.3(YLPM1):c.1546A>G (p.Met516Val)	YLPM1 (M516V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191579	NM_019589.3(YLPM1):c.1555C>T (p.Pro519Ser)	YLPM1 (P519S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218941	NM_019589.3(YLPM1):c.1574A>G (p.Gln525Arg)	YLPM1 (Q525R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344731	NM_019589.3(YLPM1):c.1597A>G (p.Met533Val)	YLPM1 (M533V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191580	NM_019589.3(YLPM1):c.1642C>T (p.Pro548Ser)	YLPM1 (P548S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333701	NM_019589.3(YLPM1):c.1682C>T (p.Pro561Leu)	YLPM1 (P561L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367900	NM_019589.3(YLPM1):c.1687C>T (p.Pro563Ser)	YLPM1 (P563S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555035	NM_019589.3(YLPM1):c.1690G>C (p.Val564Leu)	YLPM1 (V564L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191581	NM_019589.3(YLPM1):c.1741T>C (p.Ser581Pro)	YLPM1 (S581P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191582	NM_019589.3(YLPM1):c.1766C>T (p.Pro589Leu)	YLPM1 (P589L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191583	NM_019589.3(YLPM1):c.1774C>T (p.Pro592Ser)	YLPM1 (P592S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304132	NM_019589.3(YLPM1):c.1888C>T (p.Pro630Ser)	YLPM1 (P630S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273005	NM_019589.3(YLPM1):c.1923G>T (p.Gly641=)	YLPM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3191584	NM_019589.3(YLPM1):c.1926A>G (p.Ile642Met)	YLPM1 (I642M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588875	NM_019589.3(YLPM1):c.1931C>T (p.Pro644Leu)	YLPM1 (P644L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237553	NM_019589.3(YLPM1):c.1949C>T (p.Pro650Leu)	YLPM1 (P650L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191585	NM_019589.3(YLPM1):c.1961C>T (p.Ala654Val)	YLPM1 (A654V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494423	NM_019589.3(YLPM1):c.2026T>C (p.Ser676Pro)	YLPM1 (S676P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354112	NM_019589.3(YLPM1):c.2045C>T (p.Pro682Leu)	YLPM1 (P682L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360501	NM_019589.3(YLPM1):c.2050A>G (p.Thr684Ala)	YLPM1 (T684A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191586	NM_019589.3(YLPM1):c.2057A>G (p.His686Arg)	YLPM1 (H686R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547404	NM_019589.3(YLPM1):c.2060C>G (p.Pro687Arg)	YLPM1 (P687R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338950	NM_019589.3(YLPM1):c.2089C>A (p.Gln697Lys)	YLPM1 (Q697K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337363	NM_019589.3(YLPM1):c.2155G>C (p.Gly719Arg)	YLPM1 (G719R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318647	NM_019589.3(YLPM1):c.2189C>A (p.Pro730Gln)	YLPM1 (P730Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191587	NM_019589.3(YLPM1):c.2205G>T (p.Lys735Asn)	YLPM1 (K735N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488754	NM_019589.3(YLPM1):c.2224G>A (p.Gly742Ser)	YLPM1 (G742S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543144	NM_019589.3(YLPM1):c.2288A>T (p.Asp763Val)	YLPM1 (D763V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371679	NM_019589.3(YLPM1):c.2350C>T (p.Arg784Cys)	YLPM1 (R784C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490177	NM_019589.3(YLPM1):c.2369C>T (p.Pro790Leu)	YLPM1 (P790L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333699	NM_019589.3(YLPM1):c.2372A>T (p.Asp791Val)	YLPM1 (D791V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246345	NM_019589.3(YLPM1):c.2404G>A (p.Ala802Thr)	YLPM1 (A802T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1801766	NM_019589.3(YLPM1):c.2537A>G (p.Gln846Arg)	YLPM1 (Q846R)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2323414	NM_019589.3(YLPM1):c.2575C>T (p.Leu859Phe)	YLPM1 (L859F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455544	NM_019589.3(YLPM1):c.2617C>G (p.Gln873Glu)	YLPM1 (Q873E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551725	NM_019589.3(YLPM1):c.2645C>G (p.Ala882Gly)	YLPM1 (A882G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191589	NM_019589.3(YLPM1):c.2656A>G (p.Ile886Val)	YLPM1 (I886V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191591	NM_019589.3(YLPM1):c.2669T>C (p.Val890Ala)	YLPM1 (V890A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191592	NM_019589.3(YLPM1):c.2674G>T (p.Asp892Tyr)	YLPM1 (D892Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544060	NM_019589.3(YLPM1):c.2767A>C (p.Asn923His)	YLPM1 (N923H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346128	NM_019589.3(YLPM1):c.2767A>G (p.Asn923Asp)	YLPM1 (N923D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191593	NM_019589.3(YLPM1):c.2839C>T (p.Leu947Phe)	YLPM1 (L947F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460679	NM_019589.3(YLPM1):c.2849A>T (p.Lys950Met)	YLPM1 (K950M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191594	NM_019589.3(YLPM1):c.2851C>T (p.Pro951Ser)	YLPM1 (P951S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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