ClinVar for Gene (Select 4656) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	CFHR5, CHI3L1 +185 more	Deletion	not provided	GPathogenic
Select item 3167994	NM_002479.6(MYOG):c.63C>A (p.Asn21Lys)	MYOG, MYOPARR (N21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167968	NM_002479.6(MYOG):c.392G>A (p.Arg131His)	MYOG, MYOPARR (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167948	NM_002479.6(MYOG):c.148C>T (p.Leu50Phe)	MYOG, MYOPARR (L50F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2607940	NM_002479.6(MYOG):c.53A>G (p.Asp18Gly)	MYOG, MYOPARR (D18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595248	NM_002479.6(MYOG):c.175G>A (p.Glu59Lys)	MYOG, MYOPARR (E59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516590	NM_002479.6(MYOG):c.455G>A (p.Gly152Asp)	MYOG, MYOPARR (G152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467602	NM_002479.6(MYOG):c.451G>C (p.Gly151Arg)	MYOG, MYOPARR (G151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 2406469	NM_002479.6(MYOG):c.307G>A (p.Ala103Thr)	MYOG, MYOPARR (A103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383227	NM_002479.6(MYOG):c.85G>C (p.Gly29Arg)	MYOG, MYOPARR (G29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355066	NM_002479.6(MYOG):c.457G>A (p.Gly153Arg)	MYOG, MYOPARR (G153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304526	NM_002479.6(MYOG):c.398A>G (p.Gln133Arg)	MYOG, MYOPARR (Q133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294809	NM_002479.6(MYOG):c.339C>A (p.Asn113Lys)	MYOG, MYOPARR (N113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259885	NM_002479.6(MYOG):c.546C>A (p.Asn182Lys)	MYOG, MYOPARR (N182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244178	NM_002479.6(MYOG):c.16A>C (p.Thr6Pro)	MYOG, MYOPARR (T6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240447	NM_002479.6(MYOG):c.22C>G (p.Pro8Ala)	MYOG, MYOPARR (P8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239360	NM_002479.6(MYOG):c.601C>G (p.Leu201Val)	MYOG, MYOPARR (L201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1809047	GRCh37/hg19 1q32.1(chr1:203024864-203078150)x1	MYOG, PPFIA4	Copy number loss	not provided	GUncertain significance
Select item 1808097	GRCh37/hg19 1q32.1(chr1:203023384-203078150)x1	MYOG, PPFIA4	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1285008	NM_002479.6(MYOG):c.106G>C (p.Glu36Gln)	MYOG, MYOPARR (E36Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 783015	NM_002479.6(MYOG):c.363C>A (p.Ile121=)	MYOG, MYOPARR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773418	NM_002479.6(MYOG):c.105C>T (p.Tyr35=)	MYOG, MYOPARR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731789	NM_002479.6(MYOG):c.440G>A (p.Arg147His)	MYOG, MYOPARR (R147H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721216	NM_002479.6(MYOG):c.238G>A (p.Val80Met)	MYOG, MYOPARR (V80M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717539	NM_002479.6(MYOG):c.357G>A (p.Val119=)	MYOG, MYOPARR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565213	GRCh37/hg19 1q32.1(chr1:202789375-203058390)x3	RABIF, MYOG +5 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC122149345, LOC122149346 +166 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41