ClinVar for MedGen (Select 1746744) - ClinVar - NCBI

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Items: 17

	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 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 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 1029416	NM_015884.4(MBTPS2):c.516A>C (p.Glu172Asp)	MBTPS2 (E172D)	Single nucleotide variant (missense variant)	IFAP syndrome 1, with or without BRESHECK syndrome	GUncertain significance
Select item 932245	NM_004176.5(SREBF1):c.1589T>C (p.Leu530Pro)	SREBF1 (L530P +9 more)	Single nucleotide variant (missense variant +2 more)	IFAP syndrome 2 +1 more	GPathogenic
Select item 932244	NM_004176.5(SREBF1):c.1582_1584del (p.Asn528del)	SREBF1 (N504del +9 more)	Deletion (inframe_deletion +2 more)	IFAP syndrome 2 +1 more	GPathogenic
Select item 932243	NM_004176.5(SREBF1):c.1579C>T (p.Arg527Cys)	SREBF1 (R557C +9 more)	Single nucleotide variant (missense variant +2 more)	IFAP syndrome 2 +2 more	GPathogenic
Select item 931207	NM_015884.4(MBTPS2):c.1520C>T (p.Ala507Val)	MBTPS2 (A507V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931186	NM_015884.4(MBTPS2):c.119A>C (p.Asn40Thr)	MBTPS2 (N40T)	Single nucleotide variant (missense variant)	IFAP syndrome 1, with or without BRESHECK syndrome +1 more	GUncertain significance
Select item 590275	NM_004004.6(GJB2):c.526A>G (p.Asn176Asp)	GJB2 (N176D)	Single nucleotide variant (missense variant)	IFAP syndrome 1, with or without BRESHECK syndrome +1 more	GPathogenic/Likely pathogenic
Select item 522925	NM_015884.4(MBTPS2):c.529A>C (p.Ile177Leu)	MBTPS2 (I177L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 126904	NM_015884.4(MBTPS2):c.671-9T>G	MBTPS2	Single nucleotide variant (intron variant)	IFAP syndrome 1, with or without BRESHECK syndrome	GPathogenic
Select item 11406	NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu)	MBTPS2 (W226L)	Single nucleotide variant (missense variant)	IFAP syndrome 1, with or without BRESHECK syndrome	GPathogenic
Select item 11405	NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser)	MBTPS2 (F475S)	Single nucleotide variant (missense variant)	IFAP syndrome 1, with or without BRESHECK syndrome	GPathogenic
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 11403	NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile)	MBTPS2 (M87I)	Single nucleotide variant (missense variant)	IFAP syndrome 1, with or without BRESHECK syndrome	GPathogenic
Select item 11402	NM_015884.4(MBTPS2):c.680A>T (p.His227Leu)	MBTPS2 (H227L)	Single nucleotide variant (missense variant)	IFAP syndrome 1, with or without BRESHECK syndrome	GPathogenic