ClinVar for MedGen (Select 8510) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255369	NM_001278063.4(SKOR2):c.374G>C (p.Arg125Pro)	SKOR2 (R125P)	Single nucleotide variant (missense variant)	Dysarthria +2 more	GPathogenic
Select item 813004	NM_014727.3(KMT2B):c.6517_6518insA (p.Arg2173fs)	KMT2B (R2173fs)	Insertion (frameshift variant)	Generalized dystonia +1 more	GPathogenic
Select item 813003	NM_014727.3(KMT2B):c.3143_3149del (p.Gly1048fs)	KMT2B (G1048fs)	Deletion (frameshift variant)	Specific learning disability +4 more	GPathogenic
Select item 813000	NM_182978.4(GNAL):c.389C>T (p.Ser130Phe)	GNAL (S53F +1 more)	Single nucleotide variant (missense variant)	Limb dystonia +1 more	GLikely pathogenic
Select item 804288	NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)	HARS1 (I351L +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +13 more	GConflicting classifications of pathogenicity
Select item 804287	NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)	HARS1	Duplication (inframe_insertion)	Cerebellar ataxia +11 more	GPathogenic
Select item 804286	NM_002109.6(HARS1):c.730delG	HARS1	Deletion	Choreoathetosis +9 more	GPathogenic
Select item 804285	NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr)	HARS1 (D132Y +6 more)	Single nucleotide variant (missense variant)	Choreoathetosis +9 more	GPathogenic
Select item 692386	NC_012920.1(MT-ND1):m.3670G>A	MT-ND1	Single nucleotide variant	Leigh syndrome +6 more	GUncertain significance
Select item 583333	NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser)	TBC1D24 (N307S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +9 more	GConflicting classifications of pathogenicity
Select item 549493	NM_014727.3(KMT2B):c.4955G>A (p.Gly1652Asp)	KMT2B (G1652D)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance
Select item 424800	NM_003119.3(SPG7):c.[1529C>T];[2120delTinsCCAAGTCTGTA]			Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 411680	NM_003119.4(SPG7):c.1450-1_1457del	SPG7	Deletion (splice acceptor variant)	not provided +10 more	GPathogenic
Select item 374157	NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala)	PNPLA6 (P261A +2 more)	Single nucleotide variant (missense variant)	Dysarthria +2 more	GLikely pathogenic
Select item 374091	NM_018392.5(ZGRF1):c.3596_3597del (p.Ser1199fs)	ZGRF1 (S1141fs +1 more)	Microsatellite (frameshift variant)	See cases +6 more	GUncertain significance
Select item 374056	NM_001166114.2(PNPLA6):c.3302G>A (p.Arg1101His)	PNPLA6 (R1063H +3 more)	Single nucleotide variant (missense variant)	Dysarthria +2 more	GUncertain significance
Select item 374055	NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)	PNPLA6 (R1311W +3 more)	Single nucleotide variant (missense variant)	PNPLA6-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 373982	NM_000123.4(ERCC5):c.2929_2930del (p.Leu977fs)	ERCC5, BIVM-ERCC5 (L977fs +1 more)	Microsatellite (frameshift variant)	Spastic paraplegia +7 more	GLikely pathogenic
Select item 373969	NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg)	SMC1A (Q972R +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +10 more	GUncertain significance
Select item 373933	NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)	CACNA1A (R192W)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +2 more	GConflicting classifications of pathogenicity
Select item 373927	NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu)	DNMT1 (F906L +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +6 more	GUncertain significance
Select item 373900	NM_183357.3(ADCY5):c.649del (p.Arg217fs)	ADCY5 (R217fs)	Deletion (frameshift variant)	Language disorder +2 more	GUncertain significance
Select item 373217	NM_003172.4(SURF1):c.751+5G>A	SURF1	Single nucleotide variant (intron variant)	Mitochondrial complex IV deficiency, nuclear type 1 +7 more	GConflicting classifications of pathogenicity
Select item 268036	46;XX;t(2;10)(q22;22.3)dn		Translocation	Obesity +15 more	GPathogenic
Select item 267959	46;XY;t(1;14)(p36.22;q22.1)		Translocation	Dysarthria +2 more	GPathogenic
Select item 209173	NC_012920.1(MT-ND6):m.14597A>G	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenicFDA Recognized database
Select item 183337	NM_016955.4(SEPSECS):c.1028_1120+1del	SEPSECS	Deletion (splice acceptor variant +1 more)	Spastic diplegia +5 more	GLikely pathogenic
Select item 183277	NM_015087.5(SPART):c.1450dup (p.Thr484fs)	SPART (T484fs)	Duplication (frameshift variant)	Troyer syndrome	GPathogenic
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +11 more	GPathogenic/Likely pathogenic
Select item 12770	NM_003172.4(SURF1):c.845_846del (p.Ser282fs)	SURF1 (S282fs +1 more)	Microsatellite (frameshift variant)	See cases +10 more	GPathogenic

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Items: 30