"PreventionGenetics, part of Exact Sciences"[submitter] AND "MFAP5"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 432223	NM_003480.4(MFAP5):c.442C>T (p.Pro148Ser)	LOC126861443, MFAP5 (P148S +4 more)	Single nucleotide variant (missense variant +1 more)	MFAP5-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 517740	NM_003480.4(MFAP5):c.410-6T>C	LOC126861443, MFAP5	Single nucleotide variant (intron variant)	MFAP5-related disorder +2 more	GLikely benign
Select item 758213	NM_003480.4(MFAP5):c.354C>T (p.Ile118=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 679567	NM_003480.4(MFAP5):c.341G>A (p.Arg114Gln)	MFAP5 (R89Q +3 more)	Single nucleotide variant (missense variant +2 more)	MFAP5-related disorder +2 more	GLikely benign
Select item 507380	NM_003480.4(MFAP5):c.336-9C>T	MFAP5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1586100	NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile)	MFAP5 (N79I)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3031134	NM_003480.4(MFAP5):c.234A>G (p.Lys78=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	MFAP5-related disorder	GLikely benign
Select item 2168410	NM_003480.4(MFAP5):c.217+10G>A	MFAP5	Single nucleotide variant (intron variant)	MFAP5-related disorder +1 more	GLikely benign
Select item 2420654	NM_003480.4(MFAP5):c.146T>C (p.Val49Ala)	MFAP5 (V37A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 390582	NM_003480.4(MFAP5):c.12G>A (p.Leu4=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	MFAP5-related disorder +2 more	GConflicting classifications of pathogenicity