EFCAB6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 3274638	NM_022785.4(EFCAB6):c.4487T>G (p.Leu1496Arg)	EFCAB6, EFCAB6-AS1 (L1344R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274632	NM_022785.4(EFCAB6):c.4440G>C (p.Glu1480Asp)	EFCAB6, EFCAB6-AS1 (E1480D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459899	NM_022785.4(EFCAB6):c.4370C>T (p.Ala1457Val)	EFCAB6, EFCAB6-AS1 (A1457V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568558	NM_022785.4(EFCAB6):c.4279C>T (p.Arg1427Cys)	EFCAB6, EFCAB6-AS1 (R1275C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274646	NM_022785.4(EFCAB6):c.4271C>G (p.Ala1424Gly)	EFCAB6, EFCAB6-AS1 (A1424G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274629	NM_022785.4(EFCAB6):c.4252A>T (p.Thr1418Ser)	EFCAB6, EFCAB6-AS1 (T1266S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357875	NM_022785.4(EFCAB6):c.4243G>A (p.Gly1415Ser)	EFCAB6, EFCAB6-AS1 (G1263S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324925	NM_022785.4(EFCAB6):c.4202A>G (p.His1401Arg)	EFCAB6, EFCAB6-AS1 (H1249R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087491	NM_022785.4(EFCAB6):c.4142A>G (p.Tyr1381Cys)	EFCAB6, EFCAB6-AS1 (Y1381C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614603	NM_022785.4(EFCAB6):c.4079G>A (p.Ser1360Asn)	EFCAB6, EFCAB6-AS1 (S1208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232122	NM_022785.4(EFCAB6):c.4037C>T (p.Ser1346Phe)	EFCAB6 (S1194F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274640	NM_022785.4(EFCAB6):c.4032C>T (p.Asn1344=)	EFCAB6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3087490	NM_022785.4(EFCAB6):c.3988A>G (p.Lys1330Glu)	EFCAB6 (K1330E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087488	NM_022785.4(EFCAB6):c.3953G>A (p.Arg1318Gln)	EFCAB6 (R1318Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653268	NM_022785.4(EFCAB6):c.3948G>T (p.Arg1316Ser)	EFCAB6 (R1164S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3087487	NM_022785.4(EFCAB6):c.3914C>T (p.Pro1305Leu)	EFCAB6 (P1153L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394243	NM_022785.4(EFCAB6):c.3898G>A (p.Val1300Met)	EFCAB6 (V1300M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087484	NM_022785.4(EFCAB6):c.3875C>A (p.Pro1292His)	EFCAB6 (P1140H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087483	NM_022785.4(EFCAB6):c.3863C>T (p.Ser1288Leu)	EFCAB6 (S1136L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341960	NM_022785.4(EFCAB6):c.3799G>A (p.Val1267Ile)	EFCAB6 (V1267I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3087482	NM_022785.4(EFCAB6):c.3781G>T (p.Gly1261Trp)	EFCAB6 (G1109W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523017	NM_022785.4(EFCAB6):c.3680A>G (p.Asn1227Ser)	EFCAB6 (N1075S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406461	NM_022785.4(EFCAB6):c.3657A>C (p.Arg1219Ser)	EFCAB6 (R1067S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473479	NM_022785.4(EFCAB6):c.3652G>A (p.Asp1218Asn)	EFCAB6 (D1066N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380169	NM_022785.4(EFCAB6):c.3625G>A (p.Val1209Ile)	EFCAB6 (V1209I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230007	NM_022785.4(EFCAB6):c.3622C>T (p.Arg1208Cys)	EFCAB6 (R1056C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264870	NM_022785.4(EFCAB6):c.3608C>T (p.Ala1203Val)	EFCAB6 (A1203V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588378	NM_022785.4(EFCAB6):c.3571A>G (p.Met1191Val)	EFCAB6 (M1191V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345705	NM_022785.4(EFCAB6):c.3530A>G (p.His1177Arg)	EFCAB6 (H1177R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385017	NM_022785.4(EFCAB6):c.3506G>A (p.Arg1169His)	EFCAB6 (R1169H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368089	NM_022785.4(EFCAB6):c.3491G>C (p.Arg1164Thr)	EFCAB6 (R1012T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087481	NM_022785.4(EFCAB6):c.3461C>T (p.Pro1154Leu)	EFCAB6 (P1002L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087480	NM_022785.4(EFCAB6):c.3453A>T (p.Lys1151Asn)	EFCAB6 (K999N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288514	NM_022785.4(EFCAB6):c.3418G>C (p.Glu1140Gln)	EFCAB6 (E1140Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510481	NM_022785.4(EFCAB6):c.3417G>C (p.Glu1139Asp)	EFCAB6 (E987D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274645	NM_022785.4(EFCAB6):c.3335A>G (p.Tyr1112Cys)	EFCAB6 (Y1112C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333560	NM_022785.4(EFCAB6):c.3317C>T (p.Thr1106Met)	EFCAB6 (T954M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087479	NM_022785.4(EFCAB6):c.3283G>A (p.Gly1095Arg)	EFCAB6 (G943R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619644	NM_022785.4(EFCAB6):c.3248A>C (p.Lys1083Thr)	EFCAB6 (K1083T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352792	NM_022785.4(EFCAB6):c.3234T>G (p.Phe1078Leu)	EFCAB6 (F926L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402902	NM_022785.4(EFCAB6):c.3196G>A (p.Val1066Ile)	EFCAB6 (V914I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274641	NM_022785.4(EFCAB6):c.3037G>A (p.Gly1013Arg)	EFCAB6 (G861R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243493	NM_022785.4(EFCAB6):c.3004G>A (p.Glu1002Lys)	EFCAB6 (E1002K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542417	NM_022785.4(EFCAB6):c.2998C>G (p.Leu1000Val)	EFCAB6 (L1000V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087476	NM_022785.4(EFCAB6):c.2878G>A (p.Asp960Asn)	EFCAB6 (D808N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087475	NM_022785.4(EFCAB6):c.2855C>T (p.Thr952Ile)	EFCAB6 (T800I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087474	NM_022785.4(EFCAB6):c.2831A>G (p.Glu944Gly)	EFCAB6 (E792G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087473	NM_022785.4(EFCAB6):c.2825A>G (p.Gln942Arg)	EFCAB6 (Q790R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274634	NM_022785.4(EFCAB6):c.2768C>G (p.Pro923Arg)	EFCAB6 (P771R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519375	NM_022785.4(EFCAB6):c.2665G>C (p.Glu889Gln)	EFCAB6 (E737Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087472	NM_022785.4(EFCAB6):c.2609G>A (p.Arg870Gln)	EFCAB6 (R870Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087471	NM_022785.4(EFCAB6):c.2603G>A (p.Arg868Gln)	EFCAB6 (R716Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274633	NM_022785.4(EFCAB6):c.2582A>G (p.Asn861Ser)	EFCAB6 (N709S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287232	NM_022785.4(EFCAB6):c.2479G>A (p.Val827Ile)	EFCAB6 (V827I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274636	NM_022785.4(EFCAB6):c.2468C>T (p.Pro823Leu)	EFCAB6 (P671L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087469	NM_022785.4(EFCAB6):c.2462T>G (p.Ile821Ser)	EFCAB6 (I669S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274637	NM_022785.4(EFCAB6):c.2417G>T (p.Cys806Phe)	EFCAB6 (C654F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512573	NM_022785.4(EFCAB6):c.2326A>G (p.Asn776Asp)	EFCAB6 (N776D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378005	NM_022785.4(EFCAB6):c.2237C>T (p.Pro746Leu)	EFCAB6 (P594L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344151	NM_022785.4(EFCAB6):c.2231G>A (p.Arg744Gln)	EFCAB6 (R592Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087468	NM_022785.4(EFCAB6):c.2230C>T (p.Arg744Trp)	EFCAB6 (R744W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274635	NM_022785.4(EFCAB6):c.2213G>A (p.Arg738Lys)	EFCAB6 (R738K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403841	NM_022785.4(EFCAB6):c.2182G>A (p.Ala728Thr)	EFCAB6 (A576T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493078	NM_022785.4(EFCAB6):c.2176A>T (p.Ile726Phe)	EFCAB6 (I574F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538696	NM_022785.4(EFCAB6):c.2171A>G (p.His724Arg)	EFCAB6 (H572R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087466	NM_022785.4(EFCAB6):c.2161G>A (p.Val721Met)	EFCAB6 (V569M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590656	NM_022785.4(EFCAB6):c.2161G>T (p.Val721Leu)	EFCAB6 (V721L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409808	NM_022785.4(EFCAB6):c.2152A>G (p.Lys718Glu)	EFCAB6 (K566E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087465	NM_022785.4(EFCAB6):c.2129C>T (p.Pro710Leu)	EFCAB6 (P558L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087464	NM_022785.4(EFCAB6):c.2113G>A (p.Gly705Arg)	EFCAB6 (G705R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653269	NM_022785.4(EFCAB6):c.2098+4G>C	EFCAB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2209764	NM_022785.4(EFCAB6):c.2014G>A (p.Asp672Asn)	EFCAB6 (D672N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342691	NM_022785.4(EFCAB6):c.1988T>C (p.Leu663Pro)	EFCAB6 (L663P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274643	NM_022785.4(EFCAB6):c.1948C>T (p.Pro650Ser)	EFCAB6 (P498S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087462	NM_022785.4(EFCAB6):c.1925G>A (p.Arg642Gln)	EFCAB6 (R642Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397230	NM_022785.4(EFCAB6):c.1919A>G (p.Lys640Arg)	EFCAB6 (K488R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274630	NM_022785.4(EFCAB6):c.1849A>G (p.Lys617Glu)	EFCAB6 (K465E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218390	NM_022785.4(EFCAB6):c.1826C>T (p.Thr609Met)	EFCAB6 (T609M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087461	NM_022785.4(EFCAB6):c.1817C>G (p.Thr606Ser)	EFCAB6 (T454S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319436	NM_022785.4(EFCAB6):c.1709G>A (p.Gly570Glu)	EFCAB6 (G570E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601809	NM_022785.4(EFCAB6):c.1707A>G (p.Ile569Met)	EFCAB6 (I417M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3087460	NM_022785.4(EFCAB6):c.1699G>C (p.Ala567Pro)	EFCAB6 (A415P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273421	NM_022785.4(EFCAB6):c.1631A>G (p.His544Arg)	EFCAB6 (H392R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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