MDN1-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 3024363	GRCh38/hg38 6q15(chr6:88638119-89726639)	ANKRD6, GABRR1 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 153743	GRCh38/hg38 6q15(chr6:89007799-89705596)x3	ANKRD6, GABRR1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 153749	GRCh38/hg38 6q15(chr6:89339079-92096042)x3	ANKRD6, BACH2 +60 more	Copy number gain	See cases	GUncertain significance
Select item 3121714	NM_020466.5(LYRM2):c.26C>T (p.Ala9Val)	LOC126859738, LYRM2 +1 more (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124669	NM_014611.3(MDN1):c.16721C>T (p.Ala5574Val)	MDN1, MDN1-AS1 (A5574V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375570	NM_014611.3(MDN1):c.16720G>A (p.Ala5574Thr)	MDN1, MDN1-AS1 (A5574T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314227	NM_014611.3(MDN1):c.16645G>A (p.Gly5549Arg)	MDN1, MDN1-AS1 (G5549R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255770	NM_014611.3(MDN1):c.16603G>C (p.Asp5535His)	MDN1, MDN1-AS1 (D5535H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124668	NM_014611.3(MDN1):c.16601G>T (p.Arg5534Leu)	MDN1, MDN1-AS1 (R5534L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 440952	NM_014611.3(MDN1):c.16547C>T (p.Ala5516Val)	MDN1, MDN1-AS1 (A5516V)	Single nucleotide variant (missense variant)	MDN1-related disorder	GBenign
Select item 3045290	NM_014611.3(MDN1):c.16459+7T>C	MDN1, MDN1-AS1	Single nucleotide variant (intron variant)	MDN1-related disorder	GBenign
Select item 2343786	NM_014611.3(MDN1):c.16426G>C (p.Ala5476Pro)	MDN1, MDN1-AS1 (A5476P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038976	NM_014611.3(MDN1):c.16335C>T (p.Tyr5445=)	MDN1, MDN1-AS1	Single nucleotide variant (synonymous variant)	MDN1-related disorder	GBenign
Select item 3124667	NM_014611.3(MDN1):c.16334A>G (p.Tyr5445Cys)	MDN1, MDN1-AS1 (Y5445C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293879	NM_014611.3(MDN1):c.16199C>G (p.Thr5400Ser)	MDN1, MDN1-AS1 (T5400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124666	NM_014611.3(MDN1):c.16199C>T (p.Thr5400Ile)	MDN1, MDN1-AS1 (T5400I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309440	NM_014611.3(MDN1):c.16055G>A (p.Arg5352Gln)	MDN1, MDN1-AS1 (R5352Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034416	NM_014611.3(MDN1):c.16031+7C>T	MDN1, MDN1-AS1	Single nucleotide variant (intron variant)	MDN1-related disorder	GLikely benign
Select item 3124665	NM_014611.3(MDN1):c.16000A>G (p.Ile5334Val)	MDN1, MDN1-AS1 (I5334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052651	NM_014611.3(MDN1):c.15923T>C (p.Val5308Ala)	MDN1, MDN1-AS1 (V5308A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542266	NM_014611.3(MDN1):c.15893G>A (p.Arg5298His)	MDN1, MDN1-AS1 (R5298H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124664	NM_014611.3(MDN1):c.15781A>G (p.Thr5261Ala)	MDN1, MDN1-AS1 (T5261A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049604	NM_014611.3(MDN1):c.15714A>G (p.Gln5238=)	MDN1, MDN1-AS1	Single nucleotide variant (synonymous variant)	MDN1-related disorder	GLikely benign
Select item 3046141	NM_014611.3(MDN1):c.15704A>C (p.Glu5235Ala)	MDN1, MDN1-AS1 (E5235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124663	NM_014611.3(MDN1):c.15701C>A (p.Thr5234Lys)	MDN1, MDN1-AS1 (T5234K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051970	NM_014611.3(MDN1):c.15661+10G>A	MDN1, MDN1-AS1	Single nucleotide variant (intron variant)	MDN1-related disorder	GLikely benign
Select item 737881	NM_014611.3(MDN1):c.15657C>T (p.Pro5219=)	MDN1, MDN1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2272369	NM_014611.3(MDN1):c.15611T>C (p.Val5204Ala)	MDN1, MDN1-AS1 (V5204A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293891	NM_014611.3(MDN1):c.15544G>A (p.Glu5182Lys)	MDN1, MDN1-AS1 (E5182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251732	NM_014611.3(MDN1):c.15523A>G (p.Lys5175Glu)	MDN1, MDN1-AS1 (K5175E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124662	NM_014611.3(MDN1):c.15463A>C (p.Ser5155Arg)	MDN1, MDN1-AS1 (S5155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124661	NM_014611.3(MDN1):c.15442T>G (p.Phe5148Val)	MDN1, MDN1-AS1 (F5148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332556	NM_014611.3(MDN1):c.15440C>T (p.Ala5147Val)	MDN1, MDN1-AS1 (A5147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293851	NM_014611.3(MDN1):c.15434C>G (p.Ala5145Gly)	MDN1, MDN1-AS1 (A5145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527150	NM_014611.3(MDN1):c.15396G>C (p.Gln5132His)	MDN1, MDN1-AS1 (Q5132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038537	NM_014611.3(MDN1):c.15378G>A (p.Thr5126=)	MDN1, MDN1-AS1	Single nucleotide variant (synonymous variant)	MDN1-related disorder	GLikely benign
Select item 2329271	NM_014611.3(MDN1):c.15359G>A (p.Arg5120Lys)	MDN1, MDN1-AS1 (R5120K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293892	NM_014611.3(MDN1):c.15295A>T (p.Arg5099Trp)	MDN1, MDN1-AS1 (R5099W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544501	NM_014611.3(MDN1):c.15281C>G (p.Thr5094Arg)	MDN1, MDN1-AS1 (T5094R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293881	NM_014611.3(MDN1):c.15242T>C (p.Ile5081Thr)	MDN1, MDN1-AS1 (I5081T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042097	NM_014611.3(MDN1):c.15233C>T (p.Ser5078Leu)	MDN1, MDN1-AS1 (S5078L)	Single nucleotide variant (missense variant)	MDN1-related disorder	GLikely benign
Select item 2552316	NM_014611.3(MDN1):c.15196G>A (p.Gly5066Arg)	MDN1, MDN1-AS1 (G5066R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209352	NM_014611.3(MDN1):c.15157G>A (p.Ala5053Thr)	LOC126859739, MDN1 +1 more (A5053T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050402	NM_014611.3(MDN1):c.15156C>T (p.Ala5052=)	LOC126859739, MDN1 +1 more	Single nucleotide variant (synonymous variant)	MDN1-related disorder	GLikely benign
Select item 3293871	NM_014611.3(MDN1):c.15140T>C (p.Met5047Thr)	LOC126859739, MDN1 +1 more (M5047T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589676	NM_014611.3(MDN1):c.15139A>G (p.Met5047Val)	LOC126859739, MDN1 +1 more (M5047V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517687	NM_014611.3(MDN1):c.15109G>A (p.Gly5037Ser)	LOC126859739, MDN1 +1 more (G5037S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124660	NM_014611.3(MDN1):c.15098G>C (p.Cys5033Ser)	LOC126859739, MDN1 +1 more (C5033S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124659	NM_014611.3(MDN1):c.15049A>G (p.Thr5017Ala)	LOC126859739, MDN1 +1 more (T5017A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407277	NM_014611.3(MDN1):c.14973T>G (p.Asp4991Glu)	LOC126859739, MDN1 +1 more (D4991E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222056	NM_014611.3(MDN1):c.14971G>A (p.Asp4991Asn)	LOC126859739, MDN1 +1 more (D4991N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058944	NM_014611.3(MDN1):c.14970C>T (p.Ala4990=)	LOC126859739, MDN1 +1 more	Single nucleotide variant (synonymous variant)	MDN1-related disorder	GBenign
Select item 3124658	NM_014611.3(MDN1):c.14919A>T (p.Glu4973Asp)	LOC126859739, MDN1 +1 more (E4973D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293867	NM_014611.3(MDN1):c.14770G>A (p.Glu4924Lys)	LOC126859739, MDN1 +1 more (E4924K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045534	NM_014611.3(MDN1):c.14757T>G (p.Gly4919=)	LOC126859739, MDN1 +1 more	Single nucleotide variant (synonymous variant)	MDN1-related disorder	GBenign
Select item 3124655	NM_014611.3(MDN1):c.14756G>A (p.Gly4919Asp)	LOC126859739, MDN1 +1 more (G4919D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124654	NM_014611.3(MDN1):c.14747A>T (p.Glu4916Val)	LOC126859739, MDN1 +1 more (E4916V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343264	NM_014611.3(MDN1):c.14722C>A (p.Pro4908Thr)	LOC126859739, MDN1 +1 more (P4908T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048887	NM_014611.3(MDN1):c.14705A>G (p.Glu4902Gly)	MDN1, MDN1-AS1 (E4902G)	Single nucleotide variant (missense variant)	MDN1-related disorder	GBenign
Select item 3038183	NM_014611.3(MDN1):c.14648A>G (p.Asp4883Gly)	MDN1, MDN1-AS1 (D4883G)	Single nucleotide variant (missense variant)	MDN1-related disorder	GBenign
Select item 2254517	NM_014611.3(MDN1):c.14641C>T (p.Leu4881Phe)	MDN1, MDN1-AS1 (L4881F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1297664	NM_014611.3(MDN1):c.14558T>C (p.Ile4853Thr)	MDN1, MDN1-AS1 (I4853T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048911	NM_014611.3(MDN1):c.14556A>G (p.Gln4852=)	MDN1, MDN1-AS1	Single nucleotide variant (synonymous variant)	MDN1-related disorder	GLikely benign
Select item 2478065	NM_014611.3(MDN1):c.14542A>G (p.Lys4848Glu)	MDN1, MDN1-AS1 (K4848E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609454	NM_014611.3(MDN1):c.14520T>G (p.Asp4840Glu)	MDN1, MDN1-AS1 (D4840E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369923	NM_014611.3(MDN1):c.14494G>A (p.Glu4832Lys)	MDN1, MDN1-AS1 (E4832K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038084	NM_014611.3(MDN1):c.14349TGAGGAGGAAGA[1] (p.4783DEEE[1])	MDN1, MDN1-AS1	Microsatellite	MDN1-related disorder	GLikely benign
Select item 3124653	NM_014611.3(MDN1):c.14362G>A (p.Glu4788Lys)	MDN1, MDN1-AS1 (E4788K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044859	NM_014611.3(MDN1):c.14352GGA[1] (p.Glu4786del)	MDN1, MDN1-AS1 (E4786del)	Microsatellite	MDN1-related disorder	GLikely benign
Select item 3124652	NM_014611.3(MDN1):c.14352G>T (p.Glu4784Asp)	MDN1, MDN1-AS1 (E4784D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3060847	NM_014611.3(MDN1):c.14349T>G (p.Asp4783Glu)	MDN1, MDN1-AS1 (D4783E)	Single nucleotide variant (missense variant)	MDN1-related disorder	GBenign
Select item 2295482	NM_014611.3(MDN1):c.14346T>G (p.Asp4782Glu)	MDN1, MDN1-AS1 (D4782E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371004	NM_014611.3(MDN1):c.14300A>G (p.Asn4767Ser)	MDN1, MDN1-AS1 (N4767S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124651	NM_014611.3(MDN1):c.14269G>A (p.Gly4757Arg)	MDN1, MDN1-AS1 (G4757R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523903	NM_014611.3(MDN1):c.14201A>C (p.Asp4734Ala)	MDN1, MDN1-AS1 (D4734A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328290	NM_014611.3(MDN1):c.14161A>G (p.Lys4721Glu)	MDN1, MDN1-AS1 (K4721E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403077	NM_014611.3(MDN1):c.14159T>C (p.Ile4720Thr)	MDN1, MDN1-AS1 (I4720T)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3124650	NM_014611.3(MDN1):c.14081G>T (p.Gly4694Val)	MDN1, MDN1-AS1 (G4694V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039139	NM_014611.3(MDN1):c.14025T>C (p.Tyr4675=)	MDN1, MDN1-AS1	Single nucleotide variant (synonymous variant)	MDN1-related disorder	GLikely benign
Select item 3042533	NM_014611.3(MDN1):c.13982T>C (p.Met4661Thr)	MDN1, MDN1-AS1 (M4661T)	Single nucleotide variant (missense variant)	MDN1-related disorder	GBenign
Select item 3293850	NM_014611.3(MDN1):c.13898G>A (p.Arg4633His)	MDN1, MDN1-AS1 (R4633H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298125	NM_014611.3(MDN1):c.13897C>T (p.Arg4633Cys)	MDN1, MDN1-AS1 (R4633C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618859	NM_014611.3(MDN1):c.13778C>T (p.Thr4593Ile)	MDN1, MDN1-AS1 (T4593I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043443	NM_014611.3(MDN1):c.13711G>A (p.Val4571Met)	MDN1, MDN1-AS1 (V4571M)	Single nucleotide variant (missense variant)	MDN1-related disorder	GLikely benign
Select item 3124649	NM_014611.3(MDN1):c.13703C>T (p.Thr4568Ile)	MDN1, MDN1-AS1 (T4568I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053060	NM_014611.3(MDN1):c.13692C>T (p.Ala4564=)	MDN1, MDN1-AS1	Single nucleotide variant (synonymous variant)	MDN1-related disorder	GLikely benign
Select item 3124648	NM_014611.3(MDN1):c.13683C>G (p.Asp4561Glu)	MDN1, MDN1-AS1 (D4561E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050023	NM_014611.3(MDN1):c.13601C>G (p.Thr4534Ser)	MDN1, MDN1-AS1 (T4534S)	Single nucleotide variant (missense variant)	MDN1-related disorder	GBenign
Select item 2210703	NM_014611.3(MDN1):c.13598A>C (p.Asn4533Thr)	MDN1, MDN1-AS1 (N4533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555608	NM_014611.3(MDN1):c.13546C>A (p.Leu4516Ile)	MDN1, MDN1-AS1 (L4516I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053003	NM_014611.3(MDN1):c.13491C>T (p.Asp4497=)	MDN1, MDN1-AS1	Single nucleotide variant (synonymous variant)	MDN1-related disorder	GBenign
Select item 3124645	NM_014611.3(MDN1):c.13482A>C (p.Gln4494His)	MDN1, MDN1-AS1 (Q4494H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218085	NM_014611.3(MDN1):c.13450C>A (p.Leu4484Met)	MDN1, MDN1-AS1 (L4484M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124644	NM_014611.3(MDN1):c.13420A>G (p.Met4474Val)	MDN1, MDN1-AS1 (M4474V)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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