Related gene-specific medical variations for Gene (Select 23499) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292500	NM_001394062.1(MACF1):c.12049G>A (p.Val4017Met)	LOC126805711, MACF1 (V1955M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292486	NM_001394062.1(MACF1):c.14587T>G (p.Ser4863Ala)	LOC114803468, MACF1 (S4863A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3251770	NM_001394062.1(MACF1):c.15032G>A (p.Arg5011Lys)	LOC114803468, MACF1 (R2949K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065758	NM_001394062.1(MACF1):c.16804-2A>G	MACF1	Single nucleotide variant (splice acceptor variant)	Lissencephaly 9 with complex brainstem malformation	GLikely pathogenic
Select item 3065486	NM_001394062.1(MACF1):c.2116A>T (p.Asn706Tyr)	MACF1 (N706Y +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 3041786	NM_001394062.1(MACF1):c.14733T>C (p.His4911=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 3036293	NM_001394062.1(MACF1):c.14827C>T (p.Leu4943=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 2909870	NM_001394062.1(MACF1):c.14705T>C (p.Met4902Thr)	LOC114803468, MACF1 (M2840T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895581	NM_001394062.1(MACF1):c.14698G>A (p.Asp4900Asn)	LOC114803468, MACF1 (D2838N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892760	NM_001394062.1(MACF1):c.14817G>A (p.Glu4939=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2702117	NM_001394062.1(MACF1):c.12043G>A (p.Ala4015Thr)	LOC126805711, MACF1 (A1953T +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder +1 more	GBenign/Likely benign
Select item 2671900	NM_001394062.1(MACF1):c.171+2T>C	MACF1	Single nucleotide variant (splice donor variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2638709	NM_001394062.1(MACF1):c.15817-8027A>C	KIAA0754, MACF1 (E1361A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2638708	NM_001394062.1(MACF1):c.15817-8641_15817-8603del	KIAA0754, MACF1	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2638707	NM_001394062.1(MACF1):c.15817-8706G>C	KIAA0754, MACF1 (A1135P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2638706	NM_001394062.1(MACF1):c.15817-9957G>A	KIAA0754, MACF1 (D718N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2638705	NM_001394062.1(MACF1):c.15817-10270A>G	KIAA0754, MACF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638704	NM_001394062.1(MACF1):c.15817-10654G>A	KIAA0754, MACF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638702	NM_001394062.1(MACF1):c.14821A>T (p.Ser4941Cys)	LOC114803468, MACF1 (S2879C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2636930	NM_001394062.1(MACF1):c.14997G>C (p.Gln4999His)	LOC114803468, MACF1 (Q2937H +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2629825	NM_001394062.1(MACF1):c.12098A>G (p.Gln4033Arg)	MACF1, LOC126805711 (Q1971R +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2608117	NM_001394062.1(MACF1):c.12138G>C (p.Leu4046Phe)	LOC126805711, MACF1 (L4046F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2602215	NM_001394062.1(MACF1):c.14942G>A (p.Arg4981Gln)	LOC114803468, MACF1 (R2919Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2575669	NM_001394062.1(MACF1):c.14709G>T (p.Gln4903His)	LOC114803468, MACF1 (Q2841H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GUncertain significance
Select item 2465470	NM_001394062.1(MACF1):c.14866C>T (p.Arg4956Cys)	LOC114803468, MACF1 (R2894C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2441775	NM_001394062.1(MACF1):c.21820G>A (p.Val7274Met)	MACF1 (V3294M +2 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GLikely pathogenic
Select item 2433592	NM_001394062.1(MACF1):c.21196+1G>A	MACF1	Single nucleotide variant (splice donor variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2433591	NM_001394062.1(MACF1):c.22286T>A (p.Ile7429Asn)	MACF1 (I132N +3 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2433590	NM_001394062.1(MACF1):c.1147G>C (p.Gly383Arg)	MACF1 (G383R +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2433589	NM_001394062.1(MACF1):c.1522C>A (p.Gln508Lys)	MACF1 (Q508K +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2433588	NM_001394062.1(MACF1):c.4379T>G (p.Leu1460Trp)	MACF1 (L1460W +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2433587	NM_001394062.1(MACF1):c.3698G>A (p.Arg1233Gln)	MACF1 (R1233Q +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2433586	NM_001394062.1(MACF1):c.13663_13664dup (p.Ala4556fs)	MACF1 (A2494fs +1 more)	Duplication (frameshift variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2410325	NM_001394062.1(MACF1):c.15817-10458G>A	KIAA0754, MACF1 (A551T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400826	NM_001394062.1(MACF1):c.12115A>G (p.Thr4039Ala)	LOC126805711, MACF1 (T1977A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2397524	NM_001394062.1(MACF1):c.15817-9126T>C	KIAA0754, MACF1 (S995P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2397523	NM_001394062.1(MACF1):c.15817-9135G>A	KIAA0754, MACF1 (V992I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397182	NM_001394062.1(MACF1):c.15817-9603C>T	KIAA0754, MACF1 (R836W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383623	NM_001394062.1(MACF1):c.15817-9045A>C	KIAA0754, MACF1 (T1022P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376844	NM_001394062.1(MACF1):c.15817-9851G>A	KIAA0754, MACF1 (R753K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372308	NM_001394062.1(MACF1):c.14690G>A (p.Arg4897Lys)	LOC114803468, MACF1 (R4897K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2340496	NM_001394062.1(MACF1):c.12171A>C (p.Gln4057His)	LOC126805711, MACF1 (Q4057H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327398	NM_001394062.1(MACF1):c.15817-10584C>T	KIAA0754, MACF1 (H509Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317980	NM_001394062.1(MACF1):c.14888A>C (p.Asn4963Thr)	LOC114803468, MACF1 (N4963T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289210	NM_001394062.1(MACF1):c.15817-9632A>C	KIAA0754, MACF1 (E826A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263385	NM_001394062.1(MACF1):c.14853G>T (p.Glu4951Asp)	LOC114803468, MACF1 (E2889D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256454	NM_001394062.1(MACF1):c.15817-9146A>G	KIAA0754, MACF1 (D988G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248367	NM_001394062.1(MACF1):c.15817-9323C>T	KIAA0754, MACF1 (P929L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220942	NM_001394062.1(MACF1):c.15817-11646G>A	KIAA0754, MACF1 (V155I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216907	NM_001394062.1(MACF1):c.14941C>T (p.Arg4981Trp)	LOC114803468, MACF1 (R4981W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2198477	NM_001394062.1(MACF1):c.12207G>A (p.Glu4069=)	LOC126805711, MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193839	NM_001394062.1(MACF1):c.12076G>T (p.Ala4026Ser)	LOC126805711, MACF1 (A4026S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2118131	NM_001394062.1(MACF1):c.12177A>G (p.Val4059=)	LOC126805711, MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093912	NM_001394062.1(MACF1):c.14898T>C (p.Ala4966=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082762	NM_001394062.1(MACF1):c.14751A>G (p.Pro4917=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2064190	NM_001394062.1(MACF1):c.12238A>G (p.Thr4080Ala)	LOC126805711, MACF1 (T2018A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2054513	NM_001394062.1(MACF1):c.15016G>A (p.Glu5006Lys)	LOC114803468, MACF1 (E5006K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1978318	NM_001394062.1(MACF1):c.12113C>T (p.Thr4038Ile)	LOC126805711, MACF1 (T1976I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977104	NM_001394062.1(MACF1):c.14884T>C (p.Leu4962=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973649	NM_001394062.1(MACF1):c.14864G>A (p.Arg4955His)	LOC114803468, MACF1 (R2893H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970943	NM_001394062.1(MACF1):c.12121-12A>G	LOC126805711, MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1909623	NM_001394062.1(MACF1):c.15012A>G (p.Ser5004=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878857	NM_001394062.1(MACF1):c.12056A>G (p.Lys4019Arg)	LOC126805711, MACF1 (K1957R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1803434	NM_001394062.1(MACF1):c.12025T>C (p.Trp4009Arg)	LOC126805711, MACF1 (W1947R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710685	NM_001394062.1(MACF1):c.12151G>C (p.Val4051Leu)	LOC126805711, MACF1 (V1989L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701101	NM_001394062.1(MACF1):c.11994A>G (p.Gln3998=)	LOC126805711, MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +2 more	GBenign/Likely benign
Select item 1699823	NM_001394062.1(MACF1):c.14858A>C (p.Glu4953Ala)	LOC114803468, MACF1 (E2891A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699562	NM_001394062.1(MACF1):c.14549A>G (p.Tyr4850Cys)	LOC114803468, MACF1 (Y2788C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696644	NM_001394062.1(MACF1):c.2870A>G (p.Tyr957Cys)	MACF1 (Y957C +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 1696588	NM_001394062.1(MACF1):c.3838G>A (p.Gly1280Arg)	MACF1 (G1280R +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 1690530	NM_001394062.1(MACF1):c.15005C>G (p.Thr5002Arg)	LOC114803468, MACF1 (T2940R +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1676542	NM_012090.5(MACF1):c.1972C>T (p.Leu658Phe)	MACF1 (L653F +1 more)	Single nucleotide variant	Lissencephaly 9 with complex brainstem malformation	GLikely pathogenic
Select item 1342609	NM_001394062.1(MACF1):c.12581G>A (p.Ser4194Asn)	MACF1 (S2132N +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 1342460	NM_001394062.1(MACF1):c.12752A>G (p.His4251Arg)	MACF1 (H2189R +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 1342449	NM_001394062.1(MACF1):c.18866C>T (p.Thr6289Met)	MACF1 (T4230M +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 1341866	NM_001394062.1(MACF1):c.1163C>T (p.Pro388Leu)	MACF1 (P388L +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 1283515	NM_001394062.1(MACF1):c.110-210G>A	LOC129930209, MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280302	NM_001394062.1(MACF1):c.110-136C>A	LOC129930210, MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265512	NM_001394062.1(MACF1):c.110-207G>A	LOC129930209, MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233728	NM_001394062.1(MACF1):c.12121-95C>G	LOC126805711, MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174086	NM_001394062.1(MACF1):c.16135A>C (p.Ile5379Leu)	MACF1 (I3317L +1 more)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 1098676	NM_001394062.1(MACF1):c.19416G>C (p.Gln6472His)	MACF1 (Q4413H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 996842	NM_001394062.1(MACF1):c.12301C>G (p.Leu4101Val)	MACF1 (L2039V +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 992753	NM_001394062.1(MACF1):c.13272C>A (p.Cys4424Ter)	MACF1 (C2362* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability	GUncertain significance
Select item 983357	NM_001394062.1(MACF1):c.19636A>G (p.Thr6546Ala)	MACF1 (T4487A +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 978133	NM_001394062.1(MACF1):c.18092G>A (p.Cys6031Tyr)	MACF1 (C3972Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 931697	NM_001394062.1(MACF1):c.20952T>G (p.Asn6984Lys)	MACF1 (N4925K +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 931110	NM_001394062.1(MACF1):c.3450-7C>G	MACF1	Single nucleotide variant (intron variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 930824	NM_001394062.1(MACF1):c.19070C>T (p.Pro6357Leu)	MACF1 (P4298L +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 930813	NM_001394062.1(MACF1):c.19229T>C (p.Met6410Thr)	MACF1 (M4351T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 930636	NM_001394062.1(MACF1):c.21604G>C (p.Glu7202Gln)	MACF1 (E5143Q +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 773141	NM_001394062.1(MACF1):c.14649T>C (p.His4883=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 599525	NM_001394062.1(MACF1):c.18687G>T (p.Trp6229Cys)	MACF1 (W4170C +1 more)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 599524	NM_001394062.1(MACF1):c.17989-11C>T	MACF1	Single nucleotide variant (intron variant)	Short stature	GUncertain significance
Select item 599523	NM_001394062.1(MACF1):c.22433G>A (p.Arg7478His)	MACF1 (R5353H +1 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599522	NM_001394062.1(MACF1):c.3827G>A (p.Arg1276Gln)	MACF1 (R1281Q +1 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599521	NM_001394062.1(MACF1):c.12482A>G (p.Lys4161Arg)	MACF1 (K2099R +1 more)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 161659	NM_012090.5(MACF1):c.6753-2_6754delAGAG	MACF1	Microsatellite (genic upstream transcript variant)	Malignant tumor of prostate	GUncertain significance
Select item 161658	NM_001394062.1(MACF1):c.1508G>C (p.Arg503Thr)	MACF1 (R508T +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

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Items: 99