20445[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 3353044	NM_052897.4(MBD6):c.63C>T (p.Val21=)	MBD6	Single nucleotide variant (synonymous variant)	MBD6-related disorder	GLikely benign
Select item 2456747	NM_052897.4(MBD6):c.82T>A (p.Cys28Ser)	MBD6 (C28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723045	NM_052897.4(MBD6):c.129G>A (p.Glu43=)	MBD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2299496	NM_052897.4(MBD6):c.233C>T (p.Pro78Leu)	MBD6 (P78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789052	NM_052897.4(MBD6):c.243G>A (p.Pro81=)	MBD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2283088	NM_052897.4(MBD6):c.251C>T (p.Pro84Leu)	MBD6 (P84L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3034309	NM_052897.4(MBD6):c.258G>A (p.Gly86=)	MBD6	Single nucleotide variant (synonymous variant)	MBD6-related disorder	GLikely benign
Select item 2407555	NM_052897.4(MBD6):c.328A>G (p.Met110Val)	MBD6 (M110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124065	NM_052897.4(MBD6):c.386G>A (p.Gly129Glu)	MBD6 (G129E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618976	NM_052897.4(MBD6):c.469C>A (p.Leu157Ile)	MBD6 (L157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124066	NM_052897.4(MBD6):c.555C>A (p.Phe185Leu)	MBD6 (F185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354996	NM_052897.4(MBD6):c.652C>T (p.Pro218Ser)	MBD6 (P218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293519	NM_052897.4(MBD6):c.668A>G (p.Asn223Ser)	MBD6 (N223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505075	NM_052897.4(MBD6):c.671C>A (p.Ala224Asp)	MBD6 (A224D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3293525	NM_052897.4(MBD6):c.733C>T (p.Pro245Ser)	MBD6 (P245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616616	NM_052897.4(MBD6):c.763C>G (p.Pro255Ala)	MBD6 (P255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720957	NM_052897.4(MBD6):c.778C>G (p.Leu260Val)	MBD6 (L260V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3293529	NM_052897.4(MBD6):c.791G>C (p.Ser264Thr)	MBD6 (S264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483572	NM_052897.4(MBD6):c.806C>T (p.Pro269Leu)	MBD6 (P269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293530	NM_052897.4(MBD6):c.808C>T (p.Pro270Ser)	MBD6 (P270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330793	NM_052897.4(MBD6):c.821C>G (p.Pro274Arg)	MBD6 (P274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402412	NM_052897.4(MBD6):c.832C>T (p.Leu278Phe)	MBD6 (L278F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391679	NM_052897.4(MBD6):c.899T>A (p.Val300Asp)	MBD6 (V300D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293522	NM_052897.4(MBD6):c.901C>G (p.Leu301Val)	MBD6 (L301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391680	NM_052897.4(MBD6):c.902T>A (p.Leu301Gln)	MBD6 (L301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287551	NM_052897.4(MBD6):c.926C>T (p.Thr309Met)	MBD6 (T309M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287181	NM_052897.4(MBD6):c.950C>T (p.Pro317Leu)	MBD6 (P317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124068	NM_052897.4(MBD6):c.963C>G (p.Ser321Arg)	MBD6 (S321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327229	NM_052897.4(MBD6):c.1037C>T (p.Pro346Leu)	MBD6 (P346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790661	NM_052897.4(MBD6):c.1078C>T (p.Arg360Cys)	MBD6 (R360C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2307241	NM_052897.4(MBD6):c.1109C>T (p.Pro370Leu)	MBD6 (P370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620151	NM_052897.4(MBD6):c.1169G>C (p.Arg390Pro)	MBD6 (R390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236380	NM_052897.4(MBD6):c.1169G>A (p.Arg390Gln)	MBD6 (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391763	NM_052897.4(MBD6):c.1193C>G (p.Pro398Arg)	MBD6 (P398R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355163	NM_052897.4(MBD6):c.1193C>A (p.Pro398His)	MBD6 (P398H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297993	NM_052897.4(MBD6):c.1201C>T (p.Leu401Phe)	MBD6 (L401F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243106	NM_052897.4(MBD6):c.1262C>T (p.Pro421Leu)	MBD6 (P421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124055	NM_052897.4(MBD6):c.1356G>C (p.Gln452His)	MBD6 (Q452H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046073	NM_052897.4(MBD6):c.1436C>G (p.Pro479Arg)	MBD6 (P479R)	Single nucleotide variant (missense variant)	MBD6-related disorder	GLikely benign
Select item 2629438	NM_052897.4(MBD6):c.1513C>A (p.Pro505Thr)	MBD6 (P505T)	Single nucleotide variant (missense variant)	MBD6-related disorder	GUncertain significance
Select item 2235499	NM_052897.4(MBD6):c.1514C>T (p.Pro505Leu)	MBD6 (P505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124056	NM_052897.4(MBD6):c.1523C>T (p.Pro508Leu)	MBD6 (P508L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124057	NM_052897.4(MBD6):c.1549G>A (p.Ala517Thr)	MBD6 (A517T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293526	NM_052897.4(MBD6):c.1566C>A (p.Ser522Arg)	MBD6 (S522R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218636	NM_052897.4(MBD6):c.1603C>T (p.Pro535Ser)	MBD6 (P535S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124058	NM_052897.4(MBD6):c.1643G>A (p.Gly548Glu)	MBD6 (G548E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535617	NM_052897.4(MBD6):c.1654C>T (p.Pro552Ser)	MBD6 (P552S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338697	NM_052897.4(MBD6):c.1763C>G (p.Ala588Gly)	MBD6 (A588G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293518	NM_052897.4(MBD6):c.1795G>A (p.Val599Met)	MBD6 (V599M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049656	NM_052897.4(MBD6):c.1800T>C (p.Ala600=)	MBD6	Single nucleotide variant (synonymous variant)	MBD6-related disorder	GLikely benign
Select item 3357958	NM_052897.4(MBD6):c.1901C>G (p.Thr634Arg)	MBD6 (T634R)	Single nucleotide variant (missense variant)	MBD6-related disorder	GUncertain significance
Select item 2457224	NM_052897.4(MBD6):c.1936G>A (p.Gly646Arg)	MBD6 (G646R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332472	NM_052897.4(MBD6):c.1937G>A (p.Gly646Glu)	MBD6 (G646E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265815	NM_052897.4(MBD6):c.1953G>C (p.Glu651Asp)	MBD6 (E651D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769391	NM_052897.4(MBD6):c.2007C>A (p.Ala669=)	MBD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3293523	NM_052897.4(MBD6):c.2014A>G (p.Thr672Ala)	MBD6 (T672A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247064	NM_052897.4(MBD6):c.2063C>G (p.Pro688Arg)	MBD6 (P688R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543587	NM_052897.4(MBD6):c.2075C>A (p.Pro692His)	MBD6 (P692H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038028	NM_052897.4(MBD6):c.2083-5_2083-3del	MBD6	Deletion (intron variant)	MBD6-related disorder	GLikely benign
Select item 730010	NM_052897.4(MBD6):c.2083-6T>C	MBD6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2527564	NM_052897.4(MBD6):c.2108C>G (p.Pro703Arg)	MBD6 (P703R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633065	NM_052897.4(MBD6):c.2195C>T (p.Pro732Leu)	MBD6 (P732L)	Single nucleotide variant (missense variant)	MBD6-related disorder	GUncertain significance
Select item 2611638	NM_052897.4(MBD6):c.2203C>G (p.Leu735Val)	MBD6 (L735V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293532	NM_052897.4(MBD6):c.2299C>T (p.Pro767Ser)	MBD6 (P767S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293524	NM_052897.4(MBD6):c.2305C>A (p.Leu769Ile)	MBD6 (L769I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628819	NM_052897.4(MBD6):c.2338G>A (p.Gly780Arg)	MBD6 (G780R)	Single nucleotide variant (missense variant)	MBD6-related disorder	GUncertain significance
Select item 3124059	NM_052897.4(MBD6):c.2357C>G (p.Pro786Arg)	MBD6 (P786R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296709	NM_052897.4(MBD6):c.2359C>G (p.Leu787Val)	MBD6 (L787V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293520	NM_052897.4(MBD6):c.2368G>T (p.Ala790Ser)	MBD6 (A790S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409362	NM_052897.4(MBD6):c.2372C>G (p.Ser791Cys)	MBD6 (S791C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053115	NM_052897.4(MBD6):c.2385C>G (p.Ala795=)	MBD6	Single nucleotide variant (synonymous variant)	MBD6-related disorder	GLikely benign
Select item 3293521	NM_052897.4(MBD6):c.2399G>T (p.Ser800Ile)	MBD6 (S800I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526544	NM_052897.4(MBD6):c.2443C>T (p.Pro815Ser)	MBD6 (P815S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342862	NM_052897.4(MBD6):c.2443C>G (p.Pro815Ala)	MBD6 (P815A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124060	NM_052897.4(MBD6):c.2467G>A (p.Glu823Lys)	MBD6 (E823K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485252	NM_052897.4(MBD6):c.2513A>C (p.His838Pro)	MBD6 (H838P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041637	NM_052897.4(MBD6):c.2526C>T (p.Asp842=)	MBD6	Single nucleotide variant (synonymous variant)	MBD6-related disorder	GLikely benign
Select item 3124061	NM_052897.4(MBD6):c.2531C>T (p.Pro844Leu)	MBD6 (P844L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526478	NM_052897.4(MBD6):c.2542C>G (p.Leu848Val)	MBD6 (L848V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220792	NM_052897.4(MBD6):c.2569C>T (p.Arg857Trp)	MBD6 (R857W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240375	NM_052897.4(MBD6):c.2613G>C (p.Glu871Asp)	MBD6 (E871D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495950	NM_052897.4(MBD6):c.2624C>G (p.Ala875Gly)	MBD6 (A875G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1710444	NM_052897.4(MBD6):c.2632C>T (p.Arg878Ter)	MBD6 (R878*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 790662	NM_052897.4(MBD6):c.2641G>C (p.Gly881Arg)	MBD6 (G881R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2514308	NM_052897.4(MBD6):c.2644A>G (p.Ser882Gly)	MBD6 (S882G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554938	NM_052897.4(MBD6):c.2648G>A (p.Arg883Gln)	MBD6 (R883Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223825	NM_052897.4(MBD6):c.2663G>A (p.Arg888Gln)	MBD6 (R888Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293516	NM_052897.4(MBD6):c.2680G>A (p.Gly894Arg)	MBD6 (G894R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402437	NM_052897.4(MBD6):c.2686C>T (p.Arg896Cys)	MBD6 (R896C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293527	NM_052897.4(MBD6):c.2719C>A (p.Pro907Thr)	MBD6 (P907T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293533	NM_052897.4(MBD6):c.2788C>T (p.Pro930Ser)	MBD6 (P930S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208212	NM_052897.4(MBD6):c.2828C>T (p.Pro943Leu)	MBD6 (P943L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375903	NM_052897.4(MBD6):c.2851C>T (p.Arg951Cys)	MBD6 (R951C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124062	NM_052897.4(MBD6):c.2858G>T (p.Arg953Leu)	MBD6 (R953L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124063	NM_052897.4(MBD6):c.2879C>A (p.Thr960Asn)	MBD6 (T960N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 445772	NM_052897.4(MBD6):c.2899C>T (p.Arg967Cys)	MBD6 (R967C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2347264	NM_052897.4(MBD6):c.2900G>A (p.Arg967His)	MBD6 (R967H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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