"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MBTPS2"[ge - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 743385	NM_015884.4(MBTPS2):c.30G>C (p.Val10=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 1575398	NM_015884.4(MBTPS2):c.119A>G (p.Asn40Ser)	MBTPS2 (N40S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 425482	NM_015884.4(MBTPS2):c.225-5G>C	MBTPS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 425483	NM_015884.4(MBTPS2):c.291G>A (p.Thr97=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2660152	NM_015884.4(MBTPS2):c.339T>C (p.Tyr113=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 496905	NM_015884.4(MBTPS2):c.348CTCTTCTTCCTCTTCCTC[1] (p.Ser131_Ser136del)	MBTPS2	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 758562	NM_015884.4(MBTPS2):c.485C>T (p.Thr162Met)	MBTPS2 (T162M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 739634	NM_015884.4(MBTPS2):c.639G>A (p.Ser213=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely 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 95743	NM_015884.4(MBTPS2):c.706A>G (p.Ile236Val)	MBTPS2 (I236V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2660154	NM_015884.4(MBTPS2):c.933T>C (p.Ser311=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660155	NM_015884.4(MBTPS2):c.1026T>C (p.Asp342=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564519	NM_015884.4(MBTPS2):c.1237C>T (p.His413Tyr)	MBTPS2 (H413Y)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2660156	NM_015884.4(MBTPS2):c.1461T>C (p.Asn487=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335755	NM_015884.4(MBTPS2):c.1534G>A (p.Gly512Arg)	MBTPS2 (G512R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance