ClinVar for Gene (Select 54808) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362344	NM_001353214.3(DYM):c.421+1G>T	DYM	Single nucleotide variant (splice donor variant +1 more)	Dyggve-Melchior-Clausen syndrome	GUncertain significance
Select item 3348362	NM_001353214.3(DYM):c.1609_1619del (p.Arg537fs)	DYM (R347fs +4 more)	Deletion (frameshift variant +1 more)	DYM-related disorder	GLikely pathogenic
Select item 3274134	NM_001353214.3(DYM):c.1891A>G (p.Ile631Val)	DYM (I500V +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3274132	NM_001353214.3(DYM):c.1126G>C (p.Val376Leu)	DYM (V186L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3241985	NM_001353214.3(DYM):c.1626-2A>G	DYM	Single nucleotide variant (splice acceptor variant)	Dyggve-Melchior-Clausen syndrome	GLikely pathogenic
Select item 3086426	NM_001353214.3(DYM):c.923T>C (p.Ile308Thr)	DYM (I306T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086425	NM_001353214.3(DYM):c.751T>C (p.Ser251Pro)	DYM (S175P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086423	NM_001353214.3(DYM):c.214G>A (p.Gly72Arg)	DYM (G71R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086422	NM_001353214.3(DYM):c.2090A>G (p.Tyr697Cys)	DYM, DYM-AS1 (Y452C +18 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086421	NM_001353214.3(DYM):c.1285G>A (p.Val429Ile)	DYM (V239I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064949	NM_001353214.3(DYM):c.1867C>T (p.Arg623Ter)	DYM (R377* +11 more)	Single nucleotide variant (nonsense +1 more)	Dyggve-Melchior-Clausen syndrome	GUncertain significance
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 3053278	NM_001353214.3(DYM):c.2020C>T (p.Leu674=)	DYM	Single nucleotide variant (synonymous variant +1 more)	DYM-related disorder	GLikely benign
Select item 3047442	NM_001353214.3(DYM):c.1728+7_1728+8insTACT	DYM	Insertion (intron variant)	DYM-related disorder	GLikely benign
Select item 3036336	NM_001353214.3(DYM):c.2021T>C (p.Leu674Pro)	DYM (L368P +15 more)	Single nucleotide variant (missense variant +1 more)	DYM-related disorder	GUncertain significance
Select item 3018294	NM_001353214.3(DYM):c.140+10T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017181	NM_001353214.3(DYM):c.1413G>A (p.Ser471=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010356	NM_001353214.3(DYM):c.1092A>T (p.Thr364=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001725	NM_001353214.3(DYM):c.1182G>C (p.Val394=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997785	NM_001353214.3(DYM):c.617C>T (p.Pro206Leu)	DYM (P206L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2988189	NM_001353214.3(DYM):c.157T>C (p.Leu53=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983133	NM_001353214.3(DYM):c.1969C>T (p.Arg657Trp)	DYM (R411W +15 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2980866	NM_001353214.3(DYM):c.1366-16C>T	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979634	NM_001353214.3(DYM):c.699C>T (p.Ala233=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979047	NM_001353214.3(DYM):c.570A>G (p.Lys190=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977456	NM_001353214.3(DYM):c.421+9T>G	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976547	NM_001353214.3(DYM):c.1365+18T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968817	NM_001353214.3(DYM):c.1460+8T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965921	NM_001353214.3(DYM):c.442T>C (p.Leu148=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962486	NM_001353214.3(DYM):c.1831G>A (p.Ala611Thr)	DYM (A480T +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958692	NM_001353214.3(DYM):c.1692T>G (p.Gly564=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909362	NM_001353214.3(DYM):c.1911+2T>C	DYM	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2907797	NM_001353214.3(DYM):c.27C>T (p.Gly9=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905796	NM_001353214.3(DYM):c.900G>A (p.Ala300=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905743	NM_001353214.3(DYM):c.84G>A (p.Glu28=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897310	NM_001353214.3(DYM):c.24C>T (p.Ile8=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893129	NM_001353214.3(DYM):c.858G>C (p.Leu286=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885657	NM_001353214.3(DYM):c.1998C>T (p.Val666=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869258	NM_001353214.3(DYM):c.379C>A (p.Gln127Lys)	DYM (Q126K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2817739	NM_001353214.3(DYM):c.193+19T>A	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808659	NM_001353214.3(DYM):c.855C>T (p.Leu285=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2808307	NM_001353214.3(DYM):c.693A>C (p.Pro231=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2805893	NM_001353214.3(DYM):c.422-18T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805619	NM_001353214.3(DYM):c.1912-10T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799737	NM_001353214.3(DYM):c.1323G>A (p.Leu441=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788433	NM_001353214.3(DYM):c.252A>G (p.Arg84=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2756193	NM_001353214.3(DYM):c.750A>C (p.Ala250=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2742753	NM_001353214.3(DYM):c.1626-1G>T	DYM	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2715044	NM_001353214.3(DYM):c.1776G>A (p.Glu592=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2706203	NM_001353214.3(DYM):c.1125+8T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695356	NM_001353214.3(DYM):c.1371G>A (p.Lys457=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694989	NM_001353214.3(DYM):c.495-6T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693024	NM_001353214.3(DYM):c.1986T>C (p.Ile662=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648711	NM_001353214.3(DYM):c.1517C>T (p.Pro506Leu)	DYM (P316L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2601082	NM_001353214.3(DYM):c.253A>T (p.Thr85Ser)	DYM (T84S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584904	NM_001353214.3(DYM):c.99G>A (p.Trp33Ter)	DYM (W33*)	Single nucleotide variant (nonsense)	Dyggve-Melchior-Clausen syndrome	GLikely pathogenic
Select item 2574672	NM_001353214.3(DYM):c.916C>T (p.Gln306Ter)	DYM (Q115* +6 more)	Single nucleotide variant (nonsense +1 more)	Dyggve-Melchior-Clausen syndrome	GLikely pathogenic
Select item 2574635	NM_001353214.3(DYM):c.1626-14_1626-4del	DYM	Deletion (intron variant)	Dyggve-Melchior-Clausen syndrome	GUncertain significance
Select item 2574625	NM_001353214.3(DYM):c.1125+1G>A	DYM	Single nucleotide variant (splice donor variant)	Dyggve-Melchior-Clausen syndrome	GLikely pathogenic
Select item 2553422	NM_001353214.3(DYM):c.1870A>G (p.Thr624Ala)	DYM (T378A +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549497	NM_001353214.3(DYM):c.513A>G (p.Ile171Met)	DYM (I171M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545520	NM_001353214.3(DYM):c.457T>C (p.Cys153Arg)	DYM (C77R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530169	NM_001353214.3(DYM):c.1214C>T (p.Thr405Met)	DYM (T363M +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526348	NM_001353214.3(DYM):c.680A>C (p.Lys227Thr)	DYM (K185T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503430	NM_001353214.3(DYM):c.610C>T (p.Arg204Ter)	DYM (R128* +2 more)	Single nucleotide variant (nonsense +1 more)	Dyggve-Melchior-Clausen syndrome +1 more	GPathogenic
Select item 2426339	NC_000018.9:g.(?_46450976)_(46690177_?)dup	DYM, SMAD7	Duplication	not provided	GUncertain significance
Select item 2384809	NM_001353214.3(DYM):c.1952C>T (p.Ala651Val)	DYM (A345V +15 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317263	NM_001353214.3(DYM):c.719C>T (p.Ser240Leu)	DYM (S198L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314143	NM_001353214.3(DYM):c.2122G>A (p.Gly708Ser)	DYM, DYM-AS1 (G463S +18 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298953	NM_001353214.3(DYM):c.626C>T (p.Pro209Leu)	DYM (P133L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264961	NM_001353214.3(DYM):c.217A>T (p.Asn73Tyr)	DYM (N72Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264214	NM_001353214.3(DYM):c.2008C>T (p.Pro670Ser)	DYM (P425S +15 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260292	NM_001353214.3(DYM):c.2026-5T>C	DYM, DYM-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2236476	NM_001353214.3(DYM):c.712C>G (p.Gln238Glu)	DYM (Q162E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225509	NM_001353214.3(DYM):c.554G>A (p.Cys185Tyr)	DYM (C184Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2187566	NM_001353214.3(DYM):c.526A>G (p.Ile176Val)	DYM (I175V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176352	NM_001353214.3(DYM):c.2017A>G (p.Arg673Gly)	DYM (R427G +15 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2155691	NM_001353214.3(DYM):c.907C>T (p.Pro303Ser)	DYM (P112S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2122231	NM_001353214.3(DYM):c.2115A>G (p.Ser705=)	DYM, DYM-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2105523	NM_001353214.3(DYM):c.1727A>T (p.Tyr576Phe)	DYM (Y331F +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104438	NM_001353214.3(DYM):c.946+8G>T	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101114	NM_001353214.3(DYM):c.60A>C (p.Leu20Phe)	DYM (L20F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099011	NM_001353214.3(DYM):c.1085_1087del (p.Ile362del)	DYM (I361del +7 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2094167	NM_001353214.3(DYM):c.469C>G (p.Gln157Glu)	DYM (Q81E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2088881	NM_001353214.3(DYM):c.2088C>A (p.Pro696=)	DYM, DYM-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2078682	NM_001353214.3(DYM):c.2108A>G (p.Tyr703Cys)	DYM, DYM-AS1 (Y457C +18 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2077005	NM_001353214.3(DYM):c.603T>C (p.Tyr201=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2064244	NM_001353214.3(DYM):c.1415C>T (p.Ala472Val)	DYM (A411V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063318	NM_001353214.3(DYM):c.760G>T (p.Ala254Ser)	DYM (A253S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2055176	NM_001353214.3(DYM):c.106C>G (p.Leu36Val)	DYM (L36V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054428	NM_001353214.3(DYM):c.1146T>A (p.Ile382=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042569	NM_001353214.3(DYM):c.2091T>C (p.Tyr697=)	DYM, DYM-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2037691	NM_001353214.3(DYM):c.494+7T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2035245	NM_001353214.3(DYM):c.1205T>A (p.Leu402Ter)	DYM (L402* +7 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2023848	NM_001353214.3(DYM):c.495-18G>A	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995786	NM_001353214.3(DYM):c.780C>G (p.Val260=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989091	NM_001353214.3(DYM):c.947-16G>A	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1984676	NM_001353214.3(DYM):c.613G>A (p.Gly205Ser)	DYM (G129S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1982956	NM_001353214.3(DYM):c.1678C>T (p.Gln560Ter)	DYM (Q314* +12 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1980171	NM_001353214.3(DYM):c.657A>G (p.Leu219=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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