EHBP1L1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152827	GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3	LOC130006016, LOC130006017 +80 more	Copy number gain	See cases	GUncertain significance
Select item 152640	GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3	EHBP1L1, FAM89B +45 more	Copy number gain	See cases	GUncertain significance
Select item 2261239	NM_001099409.3(EHBP1L1):c.61G>A (p.Val21Met)	EHBP1L1 (V21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212148	NM_001099409.3(EHBP1L1):c.75C>G (p.His25Gln)	EHBP1L1 (H25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358629	NM_001099409.3(EHBP1L1):c.105-2A>G	EHBP1L1	Single nucleotide variant (splice acceptor variant)	EHBP1L1-related disorder	GUncertain significance
Select item 3087724	NM_001099409.3(EHBP1L1):c.113A>G (p.Asp38Gly)	EHBP1L1 (D38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535934	NM_001099409.3(EHBP1L1):c.139C>T (p.Arg47Trp)	EHBP1L1 (R47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525505	NM_001099409.3(EHBP1L1):c.146G>A (p.Arg49Gln)	EHBP1L1 (R49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274870	NM_001099409.3(EHBP1L1):c.155G>T (p.Cys52Phe)	EHBP1L1 (C52F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517678	NM_001099409.3(EHBP1L1):c.179C>T (p.Pro60Leu)	EHBP1L1 (P60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087732	NM_001099409.3(EHBP1L1):c.199C>T (p.Arg67Trp)	EHBP1L1 (R67W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385838	NM_001099409.3(EHBP1L1):c.237C>G (p.Asp79Glu)	EHBP1L1 (D79E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641961	NM_001099409.3(EHBP1L1):c.249C>G (p.Thr83=)	EHBP1L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2562182	NM_001099409.3(EHBP1L1):c.263C>T (p.Pro88Leu)	EHBP1L1 (P88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321523	NM_001099409.3(EHBP1L1):c.334G>T (p.Val112Leu)	EHBP1L1 (V112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204651	NM_001099409.3(EHBP1L1):c.344C>T (p.Thr115Met)	EHBP1L1 (T115M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509943	NM_001099409.3(EHBP1L1):c.379G>A (p.Val127Met)	EHBP1L1 (V127M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296846	NM_001099409.3(EHBP1L1):c.382C>T (p.Pro128Ser)	EHBP1L1 (P128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282608	NM_001099409.3(EHBP1L1):c.434T>C (p.Val145Ala)	EHBP1L1 (V145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3377198	NM_001099409.3(EHBP1L1):c.491+1G>A	EHBP1L1	Single nucleotide variant (splice donor variant)	Non-immune hydrops fetalis	GLikely pathogenic
Select item 3087754	NM_001099409.3(EHBP1L1):c.496G>A (p.Asp166Asn)	EHBP1L1 (D166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087755	NM_001099409.3(EHBP1L1):c.614G>A (p.Arg205Gln)	EHBP1L1 (R205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458897	NM_001099409.3(EHBP1L1):c.620G>A (p.Arg207Gln)	EHBP1L1 (R207Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3087756	NM_001099409.3(EHBP1L1):c.626C>G (p.Pro209Arg)	EHBP1L1 (P209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343952	NM_001099409.3(EHBP1L1):c.629A>C (p.Gln210Pro)	EHBP1L1 (Q210P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387213	NM_001099409.3(EHBP1L1):c.635A>G (p.Asp212Gly)	EHBP1L1 (D212G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284105	NM_001099409.3(EHBP1L1):c.758C>T (p.Ala253Val)	EHBP1L1 (A253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340075	NM_001099409.3(EHBP1L1):c.760C>A (p.Pro254Thr)	EHBP1L1 (P254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214850	NM_001099409.3(EHBP1L1):c.854C>T (p.Ser285Leu)	EHBP1L1 (S285L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087757	NM_001099409.3(EHBP1L1):c.913C>T (p.Arg305Trp)	EHBP1L1 (R305W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487876	NM_001099409.3(EHBP1L1):c.941G>A (p.Arg314Gln)	EHBP1L1 (R314Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605669	NM_001099409.3(EHBP1L1):c.950T>C (p.Val317Ala)	EHBP1L1 (V317A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641962	NM_001099409.3(EHBP1L1):c.974C>T (p.Pro325Leu)	EHBP1L1 (P325L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3087722	NM_001099409.3(EHBP1L1):c.1052C>T (p.Thr351Ile)	EHBP1L1 (T351I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373019	NM_001099409.3(EHBP1L1):c.1070G>A (p.Arg357Lys)	EHBP1L1 (R357K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087723	NM_001099409.3(EHBP1L1):c.1073T>C (p.Leu358Pro)	EHBP1L1 (L358P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2525748	NM_001099409.3(EHBP1L1):c.1084A>G (p.Ile362Val)	EHBP1L1 (I362V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361672	NM_001099409.3(EHBP1L1):c.1097G>T (p.Gly366Val)	EHBP1L1 (G366V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641963	NM_001099409.3(EHBP1L1):c.1131G>A (p.Lys377=)	EHBP1L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2272890	NM_001099409.3(EHBP1L1):c.1136A>T (p.Glu379Val)	EHBP1L1 (E379V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292647	NM_001099409.3(EHBP1L1):c.1138G>A (p.Glu380Lys)	EHBP1L1 (E380K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392417	NM_001099409.3(EHBP1L1):c.1143G>A (p.Met381Ile)	EHBP1L1 (M381I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542667	NM_001099409.3(EHBP1L1):c.1274A>G (p.Asp425Gly)	EHBP1L1 (D425G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087726	NM_001099409.3(EHBP1L1):c.1286G>C (p.Arg429Thr)	EHBP1L1 (R429T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482503	NM_001099409.3(EHBP1L1):c.1309A>G (p.Thr437Ala)	EHBP1L1 (T437A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087727	NM_001099409.3(EHBP1L1):c.1325C>T (p.Ala442Val)	EHBP1L1 (A442V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250729	NM_001099409.3(EHBP1L1):c.1361C>T (p.Thr454Ile)	EHBP1L1 (T454I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2304199	NM_001099409.3(EHBP1L1):c.1426T>G (p.Ser476Ala)	EHBP1L1 (S476A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3274862	NM_001099409.3(EHBP1L1):c.1475T>G (p.Leu492Arg)	EHBP1L1 (L492R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493079	NM_001099409.3(EHBP1L1):c.1567C>A (p.Leu523Met)	EHBP1L1 (L523M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274863	NM_001099409.3(EHBP1L1):c.1579C>T (p.Pro527Ser)	EHBP1L1 (P527S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1265858	NM_001099409.3(EHBP1L1):c.1613T>G (p.Val538Gly)	EHBP1L1 (V538G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2351137	NM_001099409.3(EHBP1L1):c.1771G>A (p.Gly591Arg)	EHBP1L1 (G591R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087728	NM_001099409.3(EHBP1L1):c.1783C>T (p.Pro595Ser)	EHBP1L1 (P595S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245719	NM_001099409.3(EHBP1L1):c.1814T>C (p.Leu605Ser)	EHBP1L1 (L605S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274866	NM_001099409.3(EHBP1L1):c.1832A>C (p.Glu611Ala)	EHBP1L1 (E611A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274861	NM_001099409.3(EHBP1L1):c.1892T>C (p.Leu631Pro)	EHBP1L1 (L631P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087730	NM_001099409.3(EHBP1L1):c.1909G>C (p.Glu637Gln)	EHBP1L1 (E637Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087731	NM_001099409.3(EHBP1L1):c.1943C>T (p.Thr648Ile)	EHBP1L1 (T648I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087733	NM_001099409.3(EHBP1L1):c.2003C>T (p.Thr668Ile)	EHBP1L1 (T668I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516737	NM_001099409.3(EHBP1L1):c.2003C>G (p.Thr668Ser)	EHBP1L1 (T668S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309685	NM_001099409.3(EHBP1L1):c.2044T>A (p.Ser682Thr)	EHBP1L1 (S682T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211654	NM_001099409.3(EHBP1L1):c.2045C>G (p.Ser682Cys)	EHBP1L1 (S682C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087734	NM_001099409.3(EHBP1L1):c.2051A>C (p.Asp684Ala)	EHBP1L1 (D684A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087735	NM_001099409.3(EHBP1L1):c.2260A>G (p.Ile754Val)	EHBP1L1 (I754V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338371	NM_001099409.3(EHBP1L1):c.2266G>A (p.Val756Met)	EHBP1L1 (V756M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475269	NM_001099409.3(EHBP1L1):c.2330A>T (p.Gln777Leu)	EHBP1L1 (Q777L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087736	NM_001099409.3(EHBP1L1):c.2473G>C (p.Ala825Pro)	EHBP1L1 (A825P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274869	NM_001099409.3(EHBP1L1):c.2528A>G (p.Glu843Gly)	EHBP1L1 (E843G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279790	NM_001099409.3(EHBP1L1):c.2591T>G (p.Leu864Arg)	EHBP1L1 (L864R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353421	NM_001099409.3(EHBP1L1):c.2599C>T (p.Arg867Cys)	EHBP1L1 (R867C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2632250	NM_001099409.3(EHBP1L1):c.2707dup (p.Arg903fs)	EHBP1L1 (R903fs)	Duplication (frameshift variant +1 more)	EHBP1L1-related disorder	GUncertain significance
Select item 3087737	NM_001099409.3(EHBP1L1):c.2740T>C (p.Ser914Pro)	EHBP1L1 (S914P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267848	NM_001099409.3(EHBP1L1):c.2761A>G (p.Ile921Val)	EHBP1L1 (I921V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087738	NM_001099409.3(EHBP1L1):c.2800G>A (p.Val934Ile)	EHBP1L1 (V934I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261854	NM_001099409.3(EHBP1L1):c.2891C>T (p.Ser964Phe)	EHBP1L1 (S964F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461626	NM_001099409.3(EHBP1L1):c.2930C>T (p.Ala977Val)	EHBP1L1 (A977V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305385	NM_001099409.3(EHBP1L1):c.3065A>C (p.Glu1022Ala)	EHBP1L1 (E1022A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247178	NM_001099409.3(EHBP1L1):c.3067G>A (p.Glu1023Lys)	EHBP1L1 (E1023K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323345	NM_001099409.3(EHBP1L1):c.3163C>T (p.Arg1055Cys)	EHBP1L1 (R297C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458766	NM_001099409.3(EHBP1L1):c.3169G>A (p.Val1057Ile)	EHBP1L1 (V299I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341469	NM_001099409.3(EHBP1L1):c.3172C>T (p.Arg1058Cys)	EHBP1L1 (R1058C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229784	NM_001099409.3(EHBP1L1):c.3211G>C (p.Ala1071Pro)	EHBP1L1 (A1071P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1331021	NM_001099409.3(EHBP1L1):c.3245A>G (p.Asp1082Gly)	EHBP1L1 (D1082G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2309534	NM_001099409.3(EHBP1L1):c.3293A>C (p.Asn1098Thr)	EHBP1L1 (N340T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342724	NM_001099409.3(EHBP1L1):c.3306C>G (p.Phe1102Leu)	EHBP1L1 (F1102L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569286	NM_001099409.3(EHBP1L1):c.3329T>C (p.Val1110Ala)	EHBP1L1 (V1110A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1252020	NM_001099409.3(EHBP1L1):c.3333_3346delinsAGAGTCAGTAGCA (p.Arg1112fs)	EHBP1L1 (R1112fs +1 more)	Indel (frameshift variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 3274865	NM_001099409.3(EHBP1L1):c.3338T>C (p.Leu1113Pro)	EHBP1L1 (L355P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087739	NM_001099409.3(EHBP1L1):c.3364C>A (p.Leu1122Met)	EHBP1L1 (L1122M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362926	NM_001099409.3(EHBP1L1):c.3376G>C (p.Asp1126His)	EHBP1L1 (D1126H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330725	NM_001099409.3(EHBP1L1):c.3395C>T (p.Thr1132Met)	EHBP1L1 (T1132M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3274872	NM_001099409.3(EHBP1L1):c.3412C>T (p.Arg1138Cys)	EHBP1L1 (R1138C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278658	NM_001099409.3(EHBP1L1):c.3482G>A (p.Arg1161His)	EHBP1L1 (R1161H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561186	NM_001099409.3(EHBP1L1):c.3562G>A (p.Glu1188Lys)	EHBP1L1 (E1188K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3087740	NM_001099409.3(EHBP1L1):c.3565G>A (p.Gly1189Arg)	EHBP1L1 (G1189R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374268	NM_001099409.3(EHBP1L1):c.3611C>T (p.Ala1204Val)	EHBP1L1 (A446V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550861	NM_001099409.3(EHBP1L1):c.3622G>T (p.Ala1208Ser)	EHBP1L1 (A450S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050482	NM_001099409.3(EHBP1L1):c.3761G>A (p.Arg1254Gln)	EHBP1L1 (R1254Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274871	NM_001099409.3(EHBP1L1):c.3783G>T (p.Glu1261Asp)	EHBP1L1 (E503D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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