"PreventionGenetics, part of Exact Sciences"[submitter] AND "MTPAP"[ge - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 378180	NM_018109.4(MTPAP):c.1637G>A (p.Ser546Asn)	MTPAP (S546N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 261004	NM_018109.4(MTPAP):c.1312+3A>G	MTPAP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 378179	NM_018109.4(MTPAP):c.1278T>C (p.Ser426=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3059530	NM_018109.4(MTPAP):c.999C>G (p.Ala333=)	MTPAP	Single nucleotide variant (synonymous variant)	MTPAP-related disorder	GLikely benign
Select item 1029511	NM_018109.4(MTPAP):c.842C>G (p.Thr281Ser)	MTPAP (T281S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 379864	NM_018109.4(MTPAP):c.585G>A (p.Lys195=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 138281	NM_018109.4(MTPAP):c.555+19C>T	MTPAP	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 129624	NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys)	MTPAP (R162C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1256275	NM_018109.4(MTPAP):c.345C>T (p.Val115=)	MTPAP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2134264	NM_018109.4(MTPAP):c.238A>G (p.Ile80Val)	MTPAP (I80V)	Single nucleotide variant (missense variant)	MTPAP-related disorder +1 more	GUncertain significance
Select item 138279	NM_018109.4(MTPAP):c.115G>T (p.Asp39Tyr)	LOC130003598, MTPAP (D39Y)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3039920	NM_018109.3(MTPAP):c.-5_-4insTTA	LOC130003598, MTPAP	Insertion	MTPAP-related disorder	GLikely benign