Related gene-specific medical variations for Gene (Select 101929215) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325885	NM_003248.6(THBS4):c.2185G>A (p.Asp729Asn)	THBS4, THBS4-AS1 (D638N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177009	NM_003248.6(THBS4):c.2741C>T (p.Thr914Ile)	THBS4, THBS4-AS1 (T823I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3177008	NM_003248.6(THBS4):c.2729T>G (p.Val910Gly)	THBS4, THBS4-AS1 (V819G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3177007	NM_003248.6(THBS4):c.2567C>T (p.Thr856Met)	LOC126807435, THBS4 +1 more (T765M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177006	NM_003248.6(THBS4):c.2382C>A (p.Asp794Glu)	LOC126807435, THBS4 +1 more (D794E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177005	NM_003248.6(THBS4):c.2321C>T (p.Thr774Ile)	LOC126807435, THBS4 +1 more (T683I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177004	NM_003248.6(THBS4):c.2269A>G (p.Met757Val)	THBS4, THBS4-AS1 (M666V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177003	NM_003248.6(THBS4):c.1883A>G (p.Asn628Ser)	THBS4, THBS4-AS1 (N628S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177001	NM_003248.6(THBS4):c.1525G>A (p.Glu509Lys)	LOC126807434, THBS4 +1 more (E418K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177000	NM_003248.6(THBS4):c.1447A>C (p.Lys483Gln)	LOC126807434, THBS4 +1 more (K483Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176999	NM_003248.6(THBS4):c.1222C>G (p.Pro408Ala)	THBS4, THBS4-AS1 (P408A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610434	NM_003248.6(THBS4):c.2092G>A (p.Gly698Arg)	THBS4, THBS4-AS1 (G698R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606724	NM_003248.6(THBS4):c.2407C>G (p.Gln803Glu)	LOC126807435, THBS4 +1 more (Q712E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605405	NM_003248.6(THBS4):c.2880T>A (p.Asp960Glu)	THBS4, THBS4-AS1 (D869E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551586	NM_003248.6(THBS4):c.1625C>T (p.Ala542Val)	LOC126807434, THBS4 +1 more (A451V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538445	NM_003248.6(THBS4):c.2239G>A (p.Asp747Asn)	THBS4, THBS4-AS1 (D656N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533242	NM_003248.6(THBS4):c.2458T>C (p.Tyr820His)	LOC126807435, THBS4 +1 more (Y729H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510759	NM_003248.6(THBS4):c.1561G>A (p.Asp521Asn)	LOC126807434, THBS4 +1 more (D521N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485203	NM_003248.6(THBS4):c.2095G>A (p.Val699Met)	THBS4, THBS4-AS1 (V699M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476642	NM_003248.6(THBS4):c.2125C>G (p.Gln709Glu)	THBS4, THBS4-AS1 (Q618E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455789	NM_003248.6(THBS4):c.2320A>G (p.Thr774Ala)	LOC126807435, THBS4 +1 more (T774A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404302	NM_003248.6(THBS4):c.1771C>T (p.Arg591Trp)	THBS4, THBS4-AS1 (R500W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397989	NM_003248.6(THBS4):c.2089G>A (p.Asp697Asn)	THBS4, THBS4-AS1 (D606N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387503	NM_003248.6(THBS4):c.1357G>A (p.Gly453Ser)	LOC126807434, THBS4 +1 more (G362S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383953	NM_003248.6(THBS4):c.1555G>A (p.Glu519Lys)	LOC126807434, THBS4 +1 more (E428K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351957	NM_003248.6(THBS4):c.1742A>G (p.Asn581Ser)	THBS4, THBS4-AS1 (N490S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335221	NM_003248.6(THBS4):c.2065C>A (p.Pro689Thr)	THBS4, THBS4-AS1 (P598T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300491	NM_003248.6(THBS4):c.2428G>A (p.Val810Met)	LOC126807435, THBS4 +1 more (V810M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294054	NM_003248.6(THBS4):c.1838A>G (p.Gln613Arg)	THBS4, THBS4-AS1 (Q613R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239324	NM_003248.6(THBS4):c.2791A>C (p.Ile931Leu)	THBS4, THBS4-AS1 (I840L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2218283	NM_003248.6(THBS4):c.1981G>A (p.Asp661Asn)	THBS4, THBS4-AS1 (D570N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213826	NM_003248.6(THBS4):c.2869G>A (p.Asp957Asn)	THBS4, THBS4-AS1 (D957N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784051	NM_003248.6(THBS4):c.1936G>A (p.Val646Ile)	THBS4, THBS4-AS1 (V555I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779423	NM_003248.6(THBS4):c.1259C>T (p.Ala420Val)	THBS4, THBS4-AS1 (A329V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 749715	NM_003248.6(THBS4):c.2728G>A (p.Val910Ile)	THBS4, THBS4-AS1 (V819I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 727042	NM_003248.6(THBS4):c.2877C>T (p.Phe959=)	THBS4, THBS4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 190255	NM_003248.6(THBS4):c.1885C>T (p.Gln629Ter)	THBS4, THBS4-AS1 (Q629* +1 more)	Single nucleotide variant (nonsense)	Hirschsprung disease, susceptibility to, 1	GUncertain significance

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Links from Gene

Items: 37