TMEM125[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3326689	NM_144626.3(TMEM125):c.41T>G (p.Leu14Arg)	TMEM125 (L14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514196	NM_144626.3(TMEM125):c.47C>T (p.Pro16Leu)	TMEM125 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278900	NM_144626.3(TMEM125):c.97C>G (p.Arg33Gly)	TMEM125 (R33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528942	NM_144626.3(TMEM125):c.101C>T (p.Ser34Leu)	TMEM125 (S34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326687	NM_144626.3(TMEM125):c.106C>T (p.Leu36Phe)	TMEM125 (L36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341064	NM_144626.3(TMEM125):c.115G>A (p.Val39Ile)	TMEM125 (V39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326688	NM_144626.3(TMEM125):c.143G>C (p.Cys48Ser)	TMEM125 (C48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178523	NM_144626.3(TMEM125):c.151G>A (p.Gly51Ser)	TMEM125 (G51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371397	NM_144626.3(TMEM125):c.154G>A (p.Gly52Ser)	TMEM125 (G52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393512	NM_144626.3(TMEM125):c.179G>A (p.Ser60Asn)	TMEM125 (S60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178524	NM_144626.3(TMEM125):c.184C>T (p.Arg62Cys)	TMEM125 (R62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178525	NM_144626.3(TMEM125):c.266C>G (p.Ser89Trp)	TMEM125 (S89W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484947	NM_144626.3(TMEM125):c.284A>G (p.Asn95Ser)	TMEM125 (N95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601017	NM_144626.3(TMEM125):c.292C>T (p.Arg98Cys)	TMEM125 (R98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326686	NM_144626.3(TMEM125):c.320G>A (p.Arg107His)	TMEM125 (R107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178526	NM_144626.3(TMEM125):c.389C>T (p.Thr130Ile)	TMEM125 (T130I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398965	NM_144626.3(TMEM125):c.437C>T (p.Ala146Val)	TMEM125 (A146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268147	NM_144626.3(TMEM125):c.448G>T (p.Val150Leu)	TMEM125 (V150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178527	NM_144626.3(TMEM125):c.478C>A (p.Leu160Ile)	TMEM125 (L160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178528	NM_144626.3(TMEM125):c.514G>A (p.Val172Met)	TMEM125 (V172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326685	NM_144626.3(TMEM125):c.520G>A (p.Gly174Arg)	TMEM125 (G174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178529	NM_144626.3(TMEM125):c.620G>A (p.Arg207Gln)	TMEM125 (R207Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178531	NM_144626.3(TMEM125):c.628G>A (p.Glu210Lys)	TMEM125 (E210K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 2685798	GRCh37/hg19 1p34.2(chr1:43431433-43787962)x3	C1orf210, CFAP144 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1070387	NC_000001.10:g.(?_43392692)_(43870241_?)del	CDC20, CFAP144 +10 more	Deletion	not provided	GPathogenic
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic

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Items: 37