MOG[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 153490	GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3	GABBR1, HCG14 +61 more	Copy number gain	See cases	GUncertain significance
Select item 931819	NM_206809.4(MOG):c.88+18dup	MOG	Duplication (intron variant)	Narcolepsy 7	GBenign
Select item 2559549	NM_206809.4(MOG):c.118C>A (p.Pro40Thr)	MOG (P40T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293620	NM_206809.4(MOG):c.163A>G (p.Ile55Val)	MOG (I55V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524086	NM_206809.4(MOG):c.181G>A (p.Ala61Thr)	MOG (A61T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490878	NM_206809.4(MOG):c.196G>A (p.Val66Met)	MOG (V66M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357854	NM_206809.4(MOG):c.211C>G (p.Pro71Ala)	MOG (P71A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3056332	NM_206809.4(MOG):c.306A>G (p.Lys102=)	MOG	Single nucleotide variant (synonymous variant +1 more)	MOG-related condition	GLikely benign
Select item 2238656	NM_206809.4(MOG):c.389G>A (p.Arg130Gln)	MOG (R130Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 29798	NM_206809.4(MOG):c.398C>G (p.Ser133Cys)	MOG (S133C)	Single nucleotide variant (missense variant +1 more)	Narcolepsy 7	GPathogenic
Select item 3059372	NM_206809.4(MOG):c.511G>C (p.Val171Leu)	MOG (V171L +1 more)	Single nucleotide variant (missense variant)	MOG-related condition	GBenign
Select item 3060512	NM_206809.4(MOG):c.520A>G (p.Ile174Val)	MOG (I174V +1 more)	Single nucleotide variant (missense variant)	MOG-related condition	GBenign
Select item 2520192	NM_206809.4(MOG):c.584G>A (p.Arg195Gln)	MOG (R195Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656323	NM_206809.4(MOG):c.636T>C (p.Phe212=)	MOG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1050364	NM_206809.4(MOG):c.636T>A (p.Phe212Leu)	MOG (F212L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2215215	NM_206809.4(MOG):c.698G>A (p.Arg233Gln)	MOG (R233Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3033947	NM_206809.4(MOG):c.730+65A>G	MOG	Single nucleotide variant (synonymous variant +1 more)	MOG-related condition	GLikely benign
Select item 3048015	NM_206809.4(MOG):c.730+147_730+149del	MOG (P293del)	Microsatellite (inframe deletion +1 more)	MOG-related condition	GBenign
Select item 1290020	NM_206809.4(MOG):c.*1059T>C	MOG, ZFP57	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1249969	NM_206809.4(MOG):c.*1108TAAA[10]	MOG, ZFP57	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1807671	GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	GABBR1, HCG17 +23 more	Copy number gain	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 27