ClinVar for MedGen (Select 767329) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064440	NM_004826.4(ECEL1):c.1865-3C>G	ECEL1	Single nucleotide variant (intron variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 3061838	NM_004826.4(ECEL1):c.2314T>C (p.Cys772Arg)	ECEL1 (C770R +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2688999	NM_004826.4(ECEL1):c.1924C>G (p.Arg642Gly)	ECEL1 (R640G +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2688998	NM_004826.4(ECEL1):c.2039T>G (p.Leu680Arg)	ECEL1 (L678R +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2686037	NM_004826.4(ECEL1):c.2012G>A (p.Gly671Glu)	ECEL1 (G669E +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2585229	NM_004826.4(ECEL1):c.38del (p.Glu13fs)	ECEL1 (E13fs)	Deletion (frameshift variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 2572395	NM_004826.4(ECEL1):c.1702C>T (p.Gln568Ter)	ECEL1 (Q566* +1 more)	Single nucleotide variant (nonsense)	Distal arthrogryposis type 5D	GPathogenic
Select item 2506376	NM_004826.4(ECEL1):c.398_410del (p.Gly133fs)	ECEL1 (G133fs)	Deletion (frameshift variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 2506368	NM_004826.4(ECEL1):c.1685+1G>A	ECEL1	Single nucleotide variant (intron variant +1 more)	Distal arthrogryposis type 5D	GPathogenic
Select item 2506362	NM_004826.4(ECEL1):c.1059+1G>A	ECEL1	Single nucleotide variant (splice donor variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 2506357	NM_004826.4(ECEL1):c.1151A>C (p.Gln384Pro)	ECEL1 (Q384P)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 2500295	NM_004826.4(ECEL1):c.1253G>A (p.Arg418His)	ECEL1 (R418H)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 2444189	NM_004826.4(ECEL1):c.1042del (p.Gln348fs)	ECEL1 (Q348fs)	Deletion (frameshift variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 2441173	NM_004826.4(ECEL1):c.2279G>T (p.Cys760Phe)	ECEL1 (C758F +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2441171	NM_004826.4(ECEL1):c.98T>A (p.Leu33Gln)	ECEL1 (L33Q)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2441170	NM_004826.4(ECEL1):c.1477G>A (p.Ala493Thr)	ECEL1 (A493T)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2441169	NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg)	ECEL1 (C123R)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2428667	NM_004826.4(ECEL1):c.1779C>G (p.Tyr593Ter)	ECEL1 (Y591* +1 more)	Single nucleotide variant (nonsense)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 2412779	NM_004826.4(ECEL1):c.1369T>G (p.Phe457Val)	ECEL1 (F457V)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 2256361	NM_004826.4(ECEL1):c.2320G>A (p.Val774Met)	ECEL1 (V774M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1806076	NM_004826.4(ECEL1):c.1531G>A (p.Gly511Ser)	ECEL1 (G511S)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 1806040	NM_004826.4(ECEL1):c.2151+2T>C	ECEL1	Single nucleotide variant (splice donor variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 1805546	NM_004826.4(ECEL1):c.1907C>T (p.Thr636Met)	ECEL1 (T634M +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 1803196	NM_004826.4(ECEL1):c.2069G>A (p.Trp690Ter)	ECEL1 (W688* +1 more)	Single nucleotide variant (nonsense)	Distal arthrogryposis type 5D	GPathogenic
Select item 1706601	NM_004826.4(ECEL1):c.1672del (p.Val558fs)	ECEL1 (V558fs)	Deletion (frameshift variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 1705569	NM_004826.4(ECEL1):c.1810G>A (p.Gly604Arg)	ECEL1 (G602R +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 1705432	NM_004826.4(ECEL1):c.1199A>C (p.Tyr400Ser)	ECEL1 (Y400S)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 1687243	NM_004826.4(ECEL1):c.80del (p.Gly27fs)	ECEL1 (G27fs)	Deletion (frameshift variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 1685759	NM_004826.4(ECEL1):c.557C>G (p.Ser186Trp)	ECEL1 (S186W)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 1685757	NM_004826.4(ECEL1):c.1211G>A (p.Arg404His)	ECEL1 (R404H)	Single nucleotide variant (missense variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 1679327	NM_004826.4(ECEL1):c.870C>A (p.Tyr290Ter)	ECEL1 (Y290*)	Single nucleotide variant (nonsense)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 1333926	NM_004826.4(ECEL1):c.100C>T (p.Pro34Ser)	ECEL1 (P34S)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D +1 more	GUncertain significance
Select item 1255365	NM_004826.4(ECEL1):c.2229-29A>C	ECEL1	Single nucleotide variant (intron variant)	Distal arthrogryposis type 5D +1 more	GBenign
Select item 1250015	NM_004826.4(ECEL1):c.1507-30G>C	ECEL1	Single nucleotide variant (intron variant)	Distal arthrogryposis type 5D +1 more	GBenign
Select item 1241662	NM_004826.4(ECEL1):c.787-23G>C	ECEL1	Single nucleotide variant (intron variant)	Distal arthrogryposis type 5D +1 more	GBenign
Select item 1048794	NM_004826.4(ECEL1):c.2151+1G>T	ECEL1	Single nucleotide variant (splice donor variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 1030846	NM_004826.4(ECEL1):c.512G>C (p.Gly171Ala)	ECEL1 (G171A)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D +1 more	GUncertain significance
Select item 816827	NM_004826.4(ECEL1):c.1147C>T (p.Gln383Ter)	ECEL1 (Q383*)	Single nucleotide variant (nonsense)	Distal arthrogryposis type 5D	GPathogenic
Select item 816826	NM_004826.4(ECEL1):c.1916C>T (p.Ser639Phe)	ECEL1 (S637F +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 816825	NM_004826.4(ECEL1):c.1581+1G>A	ECEL1	Single nucleotide variant (splice donor variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 816801	NM_004826.4(ECEL1):c.1630C>T (p.Arg544Cys)	ECEL1 (R544C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816799	NM_004826.4(ECEL1):c.505_529del (p.Gly169fs)	ECEL1 (G169fs)	Deletion (frameshift variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 731210	NM_004826.4(ECEL1):c.411C>T (p.Arg137=)	ECEL1	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 5D +2 more	GBenign/Likely benign
Select item 599020	NM_004826.4(ECEL1):c.1990-3C>G	ECEL1	Single nucleotide variant (intron variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 590922	NM_004826.4(ECEL1):c.1A>G (p.Met1Val)	ECEL1 (M1V)	Single nucleotide variant (missense variant +1 more)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 521848	NM_004826.4(ECEL1):c.1700C>G (p.Pro567Arg)	ECEL1 (P567R +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D +1 more	GUncertain significance
Select item 521056	NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro)	ECEL1 (L165P)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D +3 more	GConflicting classifications of pathogenicity
Select item 488495	NM_004826.4(ECEL1):c.2151+2T>A	ECEL1	Single nucleotide variant (splice donor variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 435024	NM_004826.4(ECEL1):c.110_155del (p.Phe37fs)	ECEL1 (F37fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 435023	NM_004826.4(ECEL1):c.509del (p.Gly170fs)	ECEL1 (G170fs)	Deletion (frameshift variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 435022	NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys)	ECEL1 (W403C)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 435021	NM_004826.4(ECEL1):c.1797-8G>A	ECEL1	Single nucleotide variant (intron variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 374305	NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter)	ECEL1 (W490*)	Single nucleotide variant (nonsense)	See cases +2 more	GPathogenic
Select item 242403	NM_004826.4(ECEL1):c.869A>G (p.Tyr290Cys)	ECEL1 (Y290C)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 242402	NM_004826.4(ECEL1):c.797_801delinsGCT (p.Asp266fs)	ECEL1 (D266fs)	Indel (frameshift variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 235821	NM_004826.3(ECEL1):c.[344_355delACCTGGACGCCA;716dupA]	ECEL1 (Y239*)	Duplication (nonsense +1 more)	Distal arthrogryposis type 5D	GPathogenic
Select item 235819	NM_004826.4(ECEL1):c.1184G>A (p.Arg395Gln)	ECEL1 (R395Q)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 235818	NM_004826.3(ECEL1):c.[1184+3A>T;1252C>A]	ECEL1 (R418S)	Single nucleotide variant (missense variant +1 more)	Distal arthrogryposis type 5D	GPathogenic
Select item 235817	NM_004826.3(ECEL1):c.[1252C>T;590G>A]	ECEL1 (R418C +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 210910	NM_004826.4(ECEL1):c.997C>T (p.Arg333Ter)	ECEL1 (R333*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 191152	NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)	ECEL1 (R404C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 161451	NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr)	ECEL1 (A675T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 128957	NM_004826.4(ECEL1):c.982C>T (p.His328Tyr)	ECEL1 (H328Y)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 100652	NM_004826.4(ECEL1):c.1685+1G>T	ECEL1	Single nucleotide variant (intron variant +1 more)	Distal arthrogryposis type 5D	GPathogenic
Select item 100651	NM_004826.4(ECEL1):c.1649C>G (p.Ser550Ter)	ECEL1 (S550*)	Single nucleotide variant (nonsense)	Distal arthrogryposis type 5D	GPathogenic
Select item 100650	NM_004826.4(ECEL1):c.2278T>C (p.Cys760Arg)	ECEL1 (C760R +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 39493	NM_004826.4(ECEL1):c.590G>A (p.Gly197Asp)	ECEL1 (G197D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39492	NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys)	ECEL1 (R418C)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 39491	NM_004826.4(ECEL1):c.1184+3A>T	ECEL1	Single nucleotide variant (intron variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 39490	NM_004826.4(ECEL1):c.1252C>A (p.Arg418Ser)	ECEL1 (R418S)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 39489	NM_004826.4(ECEL1):c.344_355del (p.Asn115_Ala118del)	ECEL1	Deletion (inframe_deletion)	Distal arthrogryposis type 5D	GPathogenic
Select item 39488	NM_004826.4(ECEL1):c.716dup (p.Tyr239Ter)	ECEL1 (Y239*)	Duplication (nonsense)	Distal arthrogryposis type 5D	GPathogenic

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Items: 72