Related gene-specific medical variations for Gene (Select 26512) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2607394	NM_001386375.1(SERPINE3):c.736G>A (p.Val246Met)	INTS6, SERPINE3 (V246M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570117	NM_001386375.1(SERPINE3):c.362C>T (p.Thr121Met)	INTS6, SERPINE3 (T121M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537117	NM_001386375.1(SERPINE3):c.763G>T (p.Ala255Ser)	INTS6, SERPINE3 (A255S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525754	NM_001386375.1(SERPINE3):c.640T>C (p.Cys214Arg)	INTS6, SERPINE3 (C214R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513049	NM_001386375.1(SERPINE3):c.89A>G (p.Lys30Arg)	INTS6, SERPINE3 (K30R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508509	NM_001386375.1(SERPINE3):c.391G>A (p.Val131Ile)	INTS6, SERPINE3 (V131I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495784	NM_001386375.1(SERPINE3):c.278T>C (p.Leu93Ser)	INTS6, SERPINE3 (L93S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489923	NM_001386375.1(SERPINE3):c.956C>G (p.Thr319Ser)	INTS6, SERPINE3 (T319S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429815	NM_012141.3(INTS6):c.976A>T (p.Lys326Ter)	INTS6 (K148* +2 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GUncertain significance
Select item 2385545	NM_001386375.1(SERPINE3):c.5C>T (p.Pro2Leu)	SERPINE3, INTS6 (P2L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2366023	NM_001386375.1(SERPINE3):c.1136G>A (p.Arg379Gln)	SERPINE3, INTS6 (R379Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358784	NM_001386375.1(SERPINE3):c.565G>C (p.Val189Leu)	INTS6, SERPINE3 (V189L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343659	NM_001386375.1(SERPINE3):c.466G>A (p.Glu156Lys)	SERPINE3, INTS6 (E156K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304768	NM_001386375.1(SERPINE3):c.202G>A (p.Ala68Thr)	INTS6, SERPINE3 (A68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291200	NM_001386375.1(SERPINE3):c.932G>A (p.Ser311Asn)	INTS6, SERPINE3 (S311N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287937	NM_001386375.1(SERPINE3):c.78G>T (p.Met26Ile)	INTS6, SERPINE3 (M26I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284204	NM_001386375.1(SERPINE3):c.181C>G (p.Leu61Val)	INTS6, SERPINE3 (L61V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance