ClinVar for Gene (Select 23195) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3348958	NM_014611.3(MDN1):c.8244G>A (p.Trp2748Ter)	MDN1 (W2748*)	Single nucleotide variant (nonsense)	MDN1-related disorder	GUncertain significance
Select item 3345692	NM_014611.3(MDN1):c.5221A>G (p.Arg1741Gly)	MDN1 (R1741G)	Single nucleotide variant (missense variant)	MDN1-related disorder	GUncertain significance
Select item 3345659	NM_014611.3(MDN1):c.12089C>G (p.Pro4030Arg)	MDN1, MDN1-AS1 (P4030R)	Single nucleotide variant (missense variant)	MDN1-related disorder	GUncertain significance
Select item 3344922	NM_014611.3(MDN1):c.9832A>G (p.Arg3278Gly)	MDN1 (R3278G)	Single nucleotide variant (missense variant)	MDN1-related disorder	GUncertain significance
Select item 3293894	NM_014611.3(MDN1):c.188G>T (p.Arg63Leu)	MDN1 (R63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293893	NM_014611.3(MDN1):c.2126C>T (p.Thr709Ile)	MDN1 (T709I)	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 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 3293890	NM_014611.3(MDN1):c.6662C>T (p.Thr2221Ile)	MDN1 (T2221I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293889	NM_014611.3(MDN1):c.4853A>T (p.Glu1618Val)	MDN1 (E1618V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293888	NM_014611.3(MDN1):c.272A>T (p.His91Leu)	MDN1 (H91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293887	NM_014611.3(MDN1):c.1604A>G (p.Asn535Ser)	MDN1 (N535S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293886	NM_014611.3(MDN1):c.4502A>G (p.Asp1501Gly)	MDN1 (D1501G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293885	NM_014611.3(MDN1):c.10198C>G (p.Leu3400Val)	MDN1 (L3400V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293883	NM_014611.3(MDN1):c.6283G>A (p.Ala2095Thr)	MDN1 (A2095T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293882	NM_014611.3(MDN1):c.12697A>T (p.Met4233Leu)	MDN1, MDN1-AS1 (M4233L)	Single nucleotide variant (non-coding transcript variant +1 more)	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 3293880	NM_014611.3(MDN1):c.118G>C (p.Asp40His)	MDN1 (D40H)	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 3293878	NM_014611.3(MDN1):c.13412G>A (p.Ser4471Asn)	MDN1, MDN1-AS1 (S4471N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3293877	NM_014611.3(MDN1):c.12407A>G (p.Lys4136Arg)	MDN1, MDN1-AS1 (K4136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293876	NM_014611.3(MDN1):c.916G>A (p.Glu306Lys)	MDN1 (E306K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293875	NM_014611.3(MDN1):c.5389G>C (p.Gly1797Arg)	MDN1 (G1797R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293874	NM_014611.3(MDN1):c.12097G>A (p.Gly4033Arg)	MDN1, MDN1-AS1 (G4033R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293872	NM_014611.3(MDN1):c.10804G>C (p.Asp3602His)	MDN1 (D3602H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3293870	NM_014611.3(MDN1):c.1993G>C (p.Val665Leu)	MDN1 (V665L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293869	NM_014611.3(MDN1):c.10180C>T (p.Pro3394Ser)	MDN1 (P3394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293868	NM_014611.3(MDN1):c.6352C>G (p.Leu2118Val)	MDN1 (L2118V)	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 3293866	NM_014611.3(MDN1):c.7906A>G (p.Ile2636Val)	MDN1 (I2636V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293865	NM_014611.3(MDN1):c.11362G>A (p.Glu3788Lys)	MDN1, MDN1-AS1 (E3788K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3293864	NM_014611.3(MDN1):c.8957A>T (p.Gln2986Leu)	MDN1 (Q2986L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293863	NM_014611.3(MDN1):c.4651C>T (p.Arg1551Cys)	MDN1 (R1551C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293858	NM_014611.3(MDN1):c.4741G>T (p.Val1581Leu)	MDN1 (V1581L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293857	NM_014611.3(MDN1):c.12778G>A (p.Val4260Met)	MDN1, MDN1-AS1 (V4260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293856	NM_014611.3(MDN1):c.68G>A (p.Ser23Asn)	MDN1 (S23N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293855	NM_014611.3(MDN1):c.12866G>A (p.Arg4289His)	MDN1, MDN1-AS1 (R4289H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293854	NM_014611.3(MDN1):c.6556A>G (p.Asn2186Asp)	MDN1 (N2186D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293853	NM_014611.3(MDN1):c.7622A>G (p.His2541Arg)	MDN1 (H2541R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293852	NM_014611.3(MDN1):c.8125G>T (p.Val2709Leu)	MDN1 (V2709L)	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 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 3293849	NM_014611.3(MDN1):c.736C>T (p.Arg246Cys)	MDN1 (R246C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3293847	NM_014611.3(MDN1):c.10484G>A (p.Arg3495Gln)	MDN1 (R3495Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246238	NC_000006.11:g.(?_90518279)_(91296602_?)del	BACH2, CASP8AP2 +3 more	Deletion	not provided	GUncertain significance
Select item 3124731	NM_014611.3(MDN1):c.9997T>C (p.Tyr3333His)	MDN1 (Y3333H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124730	NM_014611.3(MDN1):c.9676A>G (p.Ser3226Gly)	MDN1 (S3226G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124729	NM_014611.3(MDN1):c.953C>T (p.Ala318Val)	MDN1 (A318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124727	NM_014611.3(MDN1):c.9510C>G (p.Ser3170Arg)	MDN1 (S3170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124726	NM_014611.3(MDN1):c.9463C>T (p.Arg3155Trp)	MDN1 (R3155W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124725	NM_014611.3(MDN1):c.8966G>A (p.Arg2989Gln)	MDN1 (R2989Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124724	NM_014611.3(MDN1):c.8939A>G (p.His2980Arg)	MDN1 (H2980R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124722	NM_014611.3(MDN1):c.851A>G (p.Glu284Gly)	MDN1 (E284G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124721	NM_014611.3(MDN1):c.8450T>G (p.Phe2817Cys)	MDN1 (F2817C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124720	NM_014611.3(MDN1):c.8416T>C (p.Phe2806Leu)	MDN1 (F2806L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124718	NM_014611.3(MDN1):c.8257A>C (p.Lys2753Gln)	MDN1 (K2753Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124717	NM_014611.3(MDN1):c.8141C>T (p.Ala2714Val)	MDN1 (A2714V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124716	NM_014611.3(MDN1):c.8138G>A (p.Ser2713Asn)	MDN1 (S2713N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124713	NM_014611.3(MDN1):c.7935T>A (p.Phe2645Leu)	MDN1 (F2645L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124712	NM_014611.3(MDN1):c.7877T>C (p.Leu2626Pro)	MDN1 (L2626P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124711	NM_014611.3(MDN1):c.7774G>C (p.Val2592Leu)	MDN1 (V2592L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124710	NM_014611.3(MDN1):c.7570A>T (p.Ile2524Leu)	MDN1 (I2524L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124709	NM_014611.3(MDN1):c.7469T>A (p.Met2490Lys)	MDN1 (M2490K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124707	NM_014611.3(MDN1):c.7187T>C (p.Val2396Ala)	MDN1 (V2396A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124706	NM_014611.3(MDN1):c.7055G>A (p.Arg2352Gln)	MDN1 (R2352Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124704	NM_014611.3(MDN1):c.6868C>T (p.Leu2290Phe)	MDN1 (L2290F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124703	NM_014611.3(MDN1):c.6728A>G (p.Asn2243Ser)	MDN1 (N2243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124702	NM_014611.3(MDN1):c.6710A>T (p.Asp2237Val)	MDN1 (D2237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124701	NM_014611.3(MDN1):c.6632C>G (p.Thr2211Arg)	MDN1 (T2211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124698	NM_014611.3(MDN1):c.5875C>G (p.Leu1959Val)	MDN1 (L1959V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124697	NM_014611.3(MDN1):c.5745T>A (p.Asn1915Lys)	MDN1 (N1915K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124696	NM_014611.3(MDN1):c.5710A>C (p.Ile1904Leu)	MDN1 (I1904L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124695	NM_014611.3(MDN1):c.55A>G (p.Lys19Glu)	MDN1 (K19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124694	NM_014611.3(MDN1):c.53C>G (p.Ala18Gly)	MDN1 (A18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124693	NM_014611.3(MDN1):c.5371G>A (p.Ala1791Thr)	MDN1 (A1791T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124692	NM_014611.3(MDN1):c.5179C>G (p.Leu1727Val)	MDN1 (L1727V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124691	NM_014611.3(MDN1):c.4346A>C (p.Glu1449Ala)	MDN1 (E1449A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124690	NM_014611.3(MDN1):c.4311C>A (p.Asn1437Lys)	MDN1 (N1437K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124689	NM_014611.3(MDN1):c.4225C>G (p.Gln1409Glu)	MDN1 (Q1409E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124688	NM_014611.3(MDN1):c.409C>T (p.Arg137Cys)	MDN1 (R137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124687	NM_014611.3(MDN1):c.3899A>G (p.Asn1300Ser)	MDN1 (N1300S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124686	NM_014611.3(MDN1):c.3863C>G (p.Thr1288Ser)	MDN1 (T1288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124685	NM_014611.3(MDN1):c.3688A>G (p.Thr1230Ala)	MDN1 (T1230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124684	NM_014611.3(MDN1):c.3529A>G (p.Thr1177Ala)	MDN1 (T1177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124683	NM_014611.3(MDN1):c.3513C>A (p.Asn1171Lys)	MDN1 (N1171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124682	NM_014611.3(MDN1):c.3416T>C (p.Ile1139Thr)	MDN1 (I1139T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124681	NM_014611.3(MDN1):c.3100C>T (p.Arg1034Trp)	MDN1 (R1034W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124680	NM_014611.3(MDN1):c.3031T>C (p.Cys1011Arg)	MDN1 (C1011R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124679	NM_014611.3(MDN1):c.2962G>C (p.Glu988Gln)	MDN1 (E988Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124678	NM_014611.3(MDN1):c.2906G>A (p.Arg969Gln)	MDN1 (R969Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124677	NM_014611.3(MDN1):c.2633G>A (p.Arg878His)	MDN1 (R878H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124676	NM_014611.3(MDN1):c.2632C>T (p.Arg878Cys)	MDN1 (R878C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124675	NM_014611.3(MDN1):c.2162A>G (p.His721Arg)	MDN1 (H721R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124674	NM_014611.3(MDN1):c.1951G>A (p.Ala651Thr)	MDN1 (A651T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124673	NM_014611.3(MDN1):c.1928T>C (p.Leu643Pro)	MDN1 (L643P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124672	NM_014611.3(MDN1):c.1777A>C (p.Met593Leu)	MDN1 (M593L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124670	NM_014611.3(MDN1):c.175G>A (p.Val59Met)	MDN1 (V59M)	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 3124668	NM_014611.3(MDN1):c.16601G>T (p.Arg5534Leu)	MDN1, MDN1-AS1 (R5534L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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