Related gene-specific medical variations for Gene (Select 51360) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065261	NM_015884.4(MBTPS2):c.971-6_971-5del	MBTPS2	Microsatellite (intron variant)	IFAP syndrome 1, with or without BRESHECK syndrome	GUncertain significance
Select item 2974115	NM_015884.4(MBTPS2):c.16C>T (p.Leu6=)	LOC130068038, MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875008	NM_015884.4(MBTPS2):c.63C>T (p.Asp21=)	LOC130068039, MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660153	NM_206923.4(YY2):c.867C>T (p.Gly289=)	MBTPS2, YY2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660151	NM_015884.4(MBTPS2):c.67G>C (p.Val23Leu)	MBTPS2, LOC130068039 (V23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582521	NM_015884.4(MBTPS2):c.670+2688G>C	MBTPS2, YY2	Single nucleotide variant (5 prime UTR variant +1 more)	Olmsted syndrome, X-linked +3 more	GUncertain significance
Select item 2558245	NM_206923.4(YY2):c.743G>A (p.Gly248Glu)	MBTPS2, YY2 (G248E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2543455	NM_206923.4(YY2):c.439G>A (p.Gly147Ser)	MBTPS2, YY2 (G147S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2513210	NM_206923.4(YY2):c.68A>G (p.His23Arg)	MBTPS2, YY2 (H23R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492207	NM_206923.4(YY2):c.553G>A (p.Val185Met)	MBTPS2, YY2 (V185M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476931	NM_206923.4(YY2):c.332T>G (p.Ile111Ser)	MBTPS2, YY2 (I111S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472683	NM_206923.4(YY2):c.574G>A (p.Asp192Asn)	MBTPS2, YY2 (D192N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456090	NM_206923.4(YY2):c.568C>T (p.Pro190Ser)	MBTPS2, YY2 (P190S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2441801	NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu)	MBTPS2 (G176E)	Single nucleotide variant (missense variant)	Olmsted syndrome, X-linked +3 more	GUncertain significance
Select item 2433664	NM_015884.4(MBTPS2):c.1243C>G (p.Leu415Val)	MBTPS2 (L415V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2409370	NM_206923.4(YY2):c.1007C>G (p.Thr336Ser)	MBTPS2, YY2 (T336S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340464	NM_206923.4(YY2):c.622C>T (p.Pro208Ser)	MBTPS2, YY2 (P208S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338719	NM_206923.4(YY2):c.551C>G (p.Ser184Cys)	MBTPS2, YY2 (S184C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304516	NM_206923.4(YY2):c.508G>A (p.Glu170Lys)	MBTPS2, YY2 (E170K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284805	NM_206923.4(YY2):c.284A>G (p.Asn95Ser)	YY2, MBTPS2 (N95S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272876	NM_206923.4(YY2):c.409C>T (p.Arg137Cys)	YY2, MBTPS2 (R137C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269833	NM_206923.4(YY2):c.581A>G (p.Asn194Ser)	MBTPS2, YY2 (N194S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251310	NM_206923.4(YY2):c.1009G>T (p.Gly337Cys)	MBTPS2, YY2 (G337C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2099013	NM_015884.4(MBTPS2):c.67G>T (p.Val23Leu)	LOC130068039, MBTPS2 (V23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096645	NM_015884.4(MBTPS2):c.12G>A (p.Val4=)	LOC130068038, MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075970	NM_015884.4(MBTPS2):c.54C>T (p.Tyr18=)	LOC130068039, MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921745	NM_015884.4(MBTPS2):c.49G>A (p.Val17Ile)	LOC130068039, MBTPS2 (V17I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703053	NM_206923.4(YY2):c.475G>A (p.Gly159Ser)	MBTPS2, YY2 (G159S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319747	NM_015884.4(MBTPS2):c.1555C>G (p.Arg519Gly)	MBTPS2 (R519G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206285	NM_206923.4(YY2):c.1046A>G (p.Asn349Ser)	MBTPS2, YY2 (N349S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 687516	GRCh37/hg19 Xp22.12-22.11(chrX:21881463-21908677)x3	MBTPS2	Copy number gain	not provided	GUncertain significance
Select item 591243	NM_015884.4(MBTPS2):c.375CTCTTC[1] (p.Ser135_Ser136del)	MBTPS2	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 425482	NM_015884.4(MBTPS2):c.225-5G>C	MBTPS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Items: 33