"GeneDx"[submitter] AND "MBTPS2"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1282421	NC_000023.11:g.21839195AT[9]	MBTPS2	Microsatellite	not provided	GBenign
Select item 1291621	NC_000023.11:g.21839473C>A	MBTPS2	Single nucleotide variant	not provided	GBenign
Select item 1352669	NM_015884.4(MBTPS2):c.17TGG[8] (p.Val10_Val11dup)	LOC130068038, MBTPS2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1234939	NM_015884.4(MBTPS2):c.76-328G>C	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95740	NM_015884.4(MBTPS2):c.222A>G (p.Gln74=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1287066	NM_015884.4(MBTPS2):c.224+25G>A	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286458	NM_015884.4(MBTPS2):c.224+51G>A	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255294	NM_015884.4(MBTPS2):c.224+196T>C	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244166	NM_015884.4(MBTPS2):c.438+59A>C	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275350	NM_015884.4(MBTPS2):c.542+253A>G	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264613	NM_015884.4(MBTPS2):c.542+314G>A	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183020	NM_015884.4(MBTPS2):c.543-190C>A	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1704801	NM_015884.4(MBTPS2):c.643G>T (p.Val215Phe)	MBTPS2 (V215F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427134	NM_015884.4(MBTPS2):c.661T>A (p.Phe221Ile)	MBTPS2 (F221I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 392104	NM_015884.4(MBTPS2):c.695C>A (p.Ala232Glu)	MBTPS2 (A232E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215609	NM_015884.4(MBTPS2):c.758G>C (p.Gly253Ala)	MBTPS2 (G253A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1270548	NM_015884.4(MBTPS2):c.790-229C>T	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579877	NM_015884.4(MBTPS2):c.842A>T (p.His281Leu)	MBTPS2 (H281L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571912	NM_015884.4(MBTPS2):c.910C>A (p.Pro304Thr)	MBTPS2 (P304T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1227325	NM_015884.4(MBTPS2):c.971-64G>T	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432934	NM_015884.4(MBTPS2):c.1099G>A (p.Ala367Thr)	MBTPS2 (A367T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11404	NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His)	MBTPS2 (R429H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1266148	NM_015884.4(MBTPS2):c.1337+115C>T	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343637	NM_015884.4(MBTPS2):c.1397T>C (p.Leu466Ser)	MBTPS2 (L466S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95739	NM_015884.4(MBTPS2):c.1468A>G (p.Lys490Glu)	MBTPS2 (K490E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392629	NM_015884.4(MBTPS2):c.1523A>T (p.Asn508Ile)	MBTPS2 (N508I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 29956	NM_015884.4(MBTPS2):c.1523A>G (p.Asn508Ser)	MBTPS2 (N508S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1327215	NM_015884.4(MBTPS2):c.1525G>T (p.Val509Leu)	MBTPS2 (V509L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315084	NM_015884.4(MBTPS2):c.1556G>C (p.Arg519Pro)	MBTPS2 (R519P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253523	GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	CTPS2, FAM9C +106 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253489	GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1	DCAF8L2, TBL1X +126 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3361062	NM_015884.4(MBTPS2):c.1151G>A (p.Ser384Asn)	MBTPS2 (S384N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 47