MICALL1[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 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	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 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 545010	GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1	ANKRD54, C22orf23 +17 more	Copy number loss	Waardenburg syndrome type 4C	GPathogenic
Select item 2476020	NM_033386.4(MICALL1):c.86G>A (p.Ser29Asn)	MICALL1 (S29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332796	NM_033386.4(MICALL1):c.134G>A (p.Arg45Gln)	MICALL1 (R45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364852	NM_033386.4(MICALL1):c.266G>C (p.Ser89Thr)	MICALL1 (S89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328628	NM_033386.4(MICALL1):c.268G>A (p.Val90Ile)	MICALL1 (V90I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275901	NM_033386.4(MICALL1):c.274G>C (p.Asp92His)	MICALL1 (D92H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356716	NM_033386.4(MICALL1):c.367G>A (p.Ala123Thr)	MICALL1 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126246	NM_033386.4(MICALL1):c.371C>T (p.Pro124Leu)	MICALL1 (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126247	NM_033386.4(MICALL1):c.589A>T (p.Thr197Ser)	MICALL1 (T197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247025	NM_033386.4(MICALL1):c.668C>T (p.Pro223Leu)	MICALL1 (P223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213333	NM_033386.4(MICALL1):c.676C>G (p.Arg226Gly)	MICALL1 (R226G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337558	NM_033386.4(MICALL1):c.680C>T (p.Ser227Leu)	MICALL1 (S227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621499	NM_033386.4(MICALL1):c.703T>C (p.Ser235Pro)	MICALL1 (S235P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455421	NM_033386.4(MICALL1):c.736G>A (p.Ala246Thr)	MICALL1 (A246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291439	NM_033386.4(MICALL1):c.764G>A (p.Gly255Asp)	MICALL1 (G255D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126248	NM_033386.4(MICALL1):c.830G>C (p.Arg277Pro)	MICALL1 (R277P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368380	NM_033386.4(MICALL1):c.830G>A (p.Arg277Gln)	MICALL1 (R277Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258458	NM_033386.4(MICALL1):c.853C>T (p.Arg285Trp)	MICALL1 (R285W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291440	NM_033386.4(MICALL1):c.854G>A (p.Arg285Gln)	MICALL1 (R285Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279992	NM_033386.4(MICALL1):c.872A>T (p.Gln291Leu)	MICALL1 (Q291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126250	NM_033386.4(MICALL1):c.889C>T (p.Pro297Ser)	MICALL1 (P297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458717	NM_033386.4(MICALL1):c.889C>A (p.Pro297Thr)	MICALL1 (P297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247619	NM_033386.4(MICALL1):c.893C>T (p.Ala298Val)	MICALL1 (A298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412516	NM_033386.4(MICALL1):c.898C>T (p.Arg300Cys)	MICALL1 (R300C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285160	NM_033386.4(MICALL1):c.949C>G (p.Pro317Ala)	MICALL1 (P317A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307371	NM_033386.4(MICALL1):c.965G>C (p.Arg322Pro)	MICALL1 (R322P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126251	NM_033386.4(MICALL1):c.994G>A (p.Glu332Lys)	MICALL1 (E332K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318844	NM_033386.4(MICALL1):c.1004G>A (p.Gly335Asp)	MICALL1 (G335D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324487	NM_033386.4(MICALL1):c.1067C>T (p.Pro356Leu)	MICALL1 (P356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126236	NM_033386.4(MICALL1):c.1091C>T (p.Ala364Val)	MICALL1 (A364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535503	NM_033386.4(MICALL1):c.1091C>G (p.Ala364Gly)	MICALL1 (A364G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211428	NM_033386.4(MICALL1):c.1105C>T (p.Pro369Ser)	MICALL1 (P369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553223	NM_033386.4(MICALL1):c.1118C>T (p.Thr373Met)	MICALL1 (T373M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234808	NM_033386.4(MICALL1):c.1200G>T (p.Arg400Ser)	MICALL1 (R400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126237	NM_033386.4(MICALL1):c.1238C>A (p.Pro413Gln)	MICALL1 (P413Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2299769	NM_033386.4(MICALL1):c.1238C>G (p.Pro413Arg)	MICALL1 (P413R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250943	NM_033386.4(MICALL1):c.1246A>G (p.Thr416Ala)	MICALL1 (T416A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551179	NM_033386.4(MICALL1):c.1247C>T (p.Thr416Met)	MICALL1 (T416M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126238	NM_033386.4(MICALL1):c.1322C>T (p.Ala441Val)	MICALL1 (A441V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509464	NM_033386.4(MICALL1):c.1356C>A (p.His452Gln)	MICALL1 (H452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395716	NM_033386.4(MICALL1):c.1393G>A (p.Gly465Ser)	MICALL1 (G465S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258840	NM_033386.4(MICALL1):c.1400C>T (p.Thr467Ile)	MICALL1 (T467I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219652	NM_033386.4(MICALL1):c.1439C>T (p.Pro480Leu)	MICALL1 (P480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363298	NM_033386.4(MICALL1):c.1493C>T (p.Ser498Leu)	MICALL1 (S555L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383351	NM_033386.4(MICALL1):c.1544C>T (p.Ser515Leu)	MICALL1 (S515L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550339	NM_033386.4(MICALL1):c.1546T>A (p.Ser516Thr)	MICALL1 (S516T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298119	NM_033386.4(MICALL1):c.1579C>T (p.Leu527Phe)	MICALL1 (L584F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398912	NM_033386.4(MICALL1):c.1589C>T (p.Pro530Leu)	MICALL1 (P587L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126239	NM_033386.4(MICALL1):c.1640C>A (p.Thr547Asn)	MICALL1 (T604N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529028	NM_033386.4(MICALL1):c.1676C>T (p.Ser559Phe)	MICALL1 (S616F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126240	NM_033386.4(MICALL1):c.1735C>A (p.Pro579Thr)	MICALL1 (P579T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334214	NM_033386.4(MICALL1):c.1768G>A (p.Gly590Ser)	MICALL1 (G647S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361248	NM_033386.4(MICALL1):c.1777C>A (p.Pro593Thr)	MICALL1 (P593T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349666	NM_033386.4(MICALL1):c.1780G>C (p.Ala594Pro)	MICALL1 (A651P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375503	NM_033386.4(MICALL1):c.1808C>T (p.Thr603Met)	MICALL1 (T603M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475484	NM_033386.4(MICALL1):c.1821G>T (p.Leu607Phe)	MICALL1 (L664F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212465	NM_033386.4(MICALL1):c.1909C>T (p.Arg637Trp)	MICALL1 (R637W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597546	NM_033386.4(MICALL1):c.1948G>A (p.Ala650Thr)	MICALL1 (A650T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126242	NM_033386.4(MICALL1):c.1949C>T (p.Ala650Val)	MICALL1 (A648V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397485	NM_033386.4(MICALL1):c.1970T>C (p.Val657Ala)	MICALL1 (V714A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464868	NM_033386.4(MICALL1):c.2072T>C (p.Ile691Thr)	MICALL1 (I689T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275721	NM_033386.4(MICALL1):c.2078G>A (p.Arg693His)	MICALL1 (R750H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126243	NM_033386.4(MICALL1):c.2081G>T (p.Arg694Leu)	MICALL1 (R692L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525427	NM_033386.4(MICALL1):c.2102G>A (p.Arg701His)	MICALL1 (R699H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544817	NM_033386.4(MICALL1):c.2107G>T (p.Val703Leu)	MICALL1 (V703L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528064	NM_033386.4(MICALL1):c.2110C>G (p.Leu704Val)	MICALL1 (L761V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126244	NM_033386.4(MICALL1):c.2129G>C (p.Arg710Pro)	MICALL1 (R708P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362930	NM_033386.4(MICALL1):c.2134G>A (p.Gly712Ser)	MICALL1 (G710S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289863	NM_033386.4(MICALL1):c.2185A>C (p.Ile729Leu)	MICALL1 (I727L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355109	NM_033386.4(MICALL1):c.2332C>T (p.Arg778Trp)	MICALL1 (R776W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473101	NM_033386.4(MICALL1):c.2383C>T (p.Arg795Cys)	MICALL1 (R852C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509216	NM_033386.4(MICALL1):c.2545G>A (p.Gly849Arg)	MICALL1 (G849R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609673	NM_033386.4(MICALL1):c.2573C>T (p.Ser858Phe)	MICALL1 (S858F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237820	NM_033386.4(MICALL1):c.2583C>A (p.Asp861Glu)	MICALL1 (D918E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1526736	GRCh37/hg19 22q13.1(chr22:38116341-38369048)	ANKRD54, C22orf23 +9 more	Copy number loss	not specified	GLikely pathogenic
Select item 995941	GRCh37/hg19 22q13.1(chr22:38155164-38541997)	ANKRD54, C22orf23 +13 more	Copy number loss	Waardenburg syndrome type 2E	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816564	GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	SH3BP1, CSNK1E +25 more	Copy number loss	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	ANKRD54, BAIAP2L2 +31 more	Copy number loss	See cases	GPathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395465	GRCh37/hg19 22q13.1(chr22:38322968-38965458)	BAIAP2L2, C22orf23 +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394983	GRCh37/hg19 22q13.1(chr22:38337934-38343443)x3	C22orf23, MICALL1	Copy number gain	See cases	GUncertain significance
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic

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