ClinVar for Gene (Select 85377) - ClinVar

Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2621499	NM_033386.4(MICALL1):c.703T>C (p.Ser235Pro)	MICALL1 (S235P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2609673	NM_033386.4(MICALL1):c.2573C>T (p.Ser858Phe)	MICALL1 (S858F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597546	NM_033386.4(MICALL1):c.1948G>A (p.Ala650Thr)	MICALL1 (A650T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553223	NM_033386.4(MICALL1):c.1118C>T (p.Thr373Met)	MICALL1 (T373M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551179	NM_033386.4(MICALL1):c.1247C>T (p.Thr416Met)	MICALL1 (T416M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550339	NM_033386.4(MICALL1):c.1546T>A (p.Ser516Thr)	MICALL1 (S516T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544817	NM_033386.4(MICALL1):c.2107G>T (p.Val703Leu)	MICALL1 (V703L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535503	NM_033386.4(MICALL1):c.1091C>G (p.Ala364Gly)	MICALL1 (A364G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529028	NM_033386.4(MICALL1):c.1676C>T (p.Ser559Phe)	MICALL1 (S616F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528064	NM_033386.4(MICALL1):c.2110C>G (p.Leu704Val)	MICALL1 (L761V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525427	NM_033386.4(MICALL1):c.2102G>A (p.Arg701His)	MICALL1 (R699H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509464	NM_033386.4(MICALL1):c.1356C>A (p.His452Gln)	MICALL1 (H452Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509216	NM_033386.4(MICALL1):c.2545G>A (p.Gly849Arg)	MICALL1 (G849R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476020	NM_033386.4(MICALL1):c.86G>A (p.Ser29Asn)	MICALL1 (S29N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475484	NM_033386.4(MICALL1):c.1821G>T (p.Leu607Phe)	MICALL1 (L664F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473101	NM_033386.4(MICALL1):c.2383C>T (p.Arg795Cys)	MICALL1 (R852C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464868	NM_033386.4(MICALL1):c.2072T>C (p.Ile691Thr)	MICALL1 (I689T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458717	NM_033386.4(MICALL1):c.889C>A (p.Pro297Thr)	MICALL1 (P297T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455421	NM_033386.4(MICALL1):c.736G>A (p.Ala246Thr)	MICALL1 (A246T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2412516	NM_033386.4(MICALL1):c.898C>T (p.Arg300Cys)	MICALL1 (R300C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398912	NM_033386.4(MICALL1):c.1589C>T (p.Pro530Leu)	MICALL1 (P587L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397485	NM_033386.4(MICALL1):c.1970T>C (p.Val657Ala)	MICALL1 (V714A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2395716	NM_033386.4(MICALL1):c.1393G>A (p.Gly465Ser)	MICALL1 (G465S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383351	NM_033386.4(MICALL1):c.1544C>T (p.Ser515Leu)	MICALL1 (S515L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375503	NM_033386.4(MICALL1):c.1808C>T (p.Thr603Met)	MICALL1 (T603M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368380	NM_033386.4(MICALL1):c.830G>A (p.Arg277Gln)	MICALL1 (R277Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364852	NM_033386.4(MICALL1):c.266G>C (p.Ser89Thr)	MICALL1 (S89T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363298	NM_033386.4(MICALL1):c.1493C>T (p.Ser498Leu)	MICALL1 (S555L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362930	NM_033386.4(MICALL1):c.2134G>A (p.Gly712Ser)	MICALL1 (G710S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361248	NM_033386.4(MICALL1):c.1777C>A (p.Pro593Thr)	MICALL1 (P593T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356716	NM_033386.4(MICALL1):c.367G>A (p.Ala123Thr)	MICALL1 (A123T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355109	NM_033386.4(MICALL1):c.2332C>T (p.Arg778Trp)	MICALL1 (R776W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349666	NM_033386.4(MICALL1):c.1780G>C (p.Ala594Pro)	MICALL1 (A651P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337558	NM_033386.4(MICALL1):c.680C>T (p.Ser227Leu)	MICALL1 (S227L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334214	NM_033386.4(MICALL1):c.1768G>A (p.Gly590Ser)	MICALL1 (G647S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332796	NM_033386.4(MICALL1):c.134G>A (p.Arg45Gln)	MICALL1 (R45Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328628	NM_033386.4(MICALL1):c.268G>A (p.Val90Ile)	MICALL1 (V90I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324487	NM_033386.4(MICALL1):c.1067C>T (p.Pro356Leu)	MICALL1 (P356L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318844	NM_033386.4(MICALL1):c.1004G>A (p.Gly335Asp)	MICALL1 (G335D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307371	NM_033386.4(MICALL1):c.965G>C (p.Arg322Pro)	MICALL1 (R322P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299769	NM_033386.4(MICALL1):c.1238C>G (p.Pro413Arg)	MICALL1 (P413R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298119	NM_033386.4(MICALL1):c.1579C>T (p.Leu527Phe)	MICALL1 (L584F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291440	NM_033386.4(MICALL1):c.854G>A (p.Arg285Gln)	MICALL1 (R285Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291439	NM_033386.4(MICALL1):c.764G>A (p.Gly255Asp)	MICALL1 (G255D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289863	NM_033386.4(MICALL1):c.2185A>C (p.Ile729Leu)	MICALL1 (I727L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285160	NM_033386.4(MICALL1):c.949C>G (p.Pro317Ala)	MICALL1 (P317A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279992	NM_033386.4(MICALL1):c.872A>T (p.Gln291Leu)	MICALL1 (Q291L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275901	NM_033386.4(MICALL1):c.274G>C (p.Asp92His)	MICALL1 (D92H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275721	NM_033386.4(MICALL1):c.2078G>A (p.Arg693His)	MICALL1 (R750H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258840	NM_033386.4(MICALL1):c.1400C>T (p.Thr467Ile)	MICALL1 (T467I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258458	NM_033386.4(MICALL1):c.853C>T (p.Arg285Trp)	MICALL1 (R285W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250943	NM_033386.4(MICALL1):c.1246A>G (p.Thr416Ala)	MICALL1 (T416A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2247619	NM_033386.4(MICALL1):c.893C>T (p.Ala298Val)	MICALL1 (A298V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247025	NM_033386.4(MICALL1):c.668C>T (p.Pro223Leu)	MICALL1 (P223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237820	NM_033386.4(MICALL1):c.2583C>A (p.Asp861Glu)	MICALL1 (D918E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234808	NM_033386.4(MICALL1):c.1200G>T (p.Arg400Ser)	MICALL1 (R400S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219652	NM_033386.4(MICALL1):c.1439C>T (p.Pro480Leu)	MICALL1 (P480L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213333	NM_033386.4(MICALL1):c.676C>G (p.Arg226Gly)	MICALL1 (R226G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212465	NM_033386.4(MICALL1):c.1909C>T (p.Arg637Trp)	MICALL1 (R637W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211428	NM_033386.4(MICALL1):c.1105C>T (p.Pro369Ser)	MICALL1 (P369S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 545010	GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1	ANKRD54, C22orf23 +17 more	Copy number loss	Waardenburg syndrome type 4C	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)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +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	SLC5A1, SLC5A4 +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	A4GALT, ACO2 +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
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	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 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	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 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 88