CASP4[gene] and "single gene"[properties] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137598	NM_001225.4(CASP4):c.1121T>C (p.Phe374Ser)	CASP4 (F374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781813	NM_001225.4(CASP4):c.1112dup (p.Tyr372fs)	CASP4 (Y316fs +1 more)	Duplication (frameshift variant)	not provided	GBenign
Select item 3263429	NM_001225.4(CASP4):c.1036G>A (p.Val346Ile)	CASP4 (V346I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222422	NM_001225.4(CASP4):c.982A>C (p.Thr328Pro)	CASP4 (T328P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137605	NM_001225.4(CASP4):c.920C>T (p.Thr307Met)	CASP4 (T251M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137604	NM_001225.4(CASP4):c.886G>A (p.Val296Met)	CASP4 (V296M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787387	NM_001225.4(CASP4):c.852G>T (p.Glu284Asp)	CASP4 (E228D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2336621	NM_001225.4(CASP4):c.847T>C (p.Ser283Pro)	CASP4 (S227P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383541	NM_001225.4(CASP4):c.676C>A (p.Pro226Thr)	CASP4 (P170T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137602	NM_001225.4(CASP4):c.547G>T (p.Asp183Tyr)	CASP4 (D127Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623142	NM_001225.4(CASP4):c.475A>C (p.Ile159Leu)	CASP4 (I159L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360536	NM_001225.4(CASP4):c.407G>A (p.Arg136His)	CASP4 (R136H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263428	NM_001225.4(CASP4):c.382A>G (p.Ile128Val)	CASP4 (I128V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137601	NM_001225.4(CASP4):c.294G>C (p.Glu98Asp)	CASP4 (E42D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403540	NM_001225.4(CASP4):c.293A>G (p.Glu98Gly)	CASP4 (E42G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137600	NM_001225.4(CASP4):c.266A>T (p.His89Leu)	CASP4 (H89L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206854	NM_001225.4(CASP4):c.254A>G (p.Asn85Ser)	CASP4 (N29S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227147	NM_001225.4(CASP4):c.224C>G (p.Thr75Ser)	CASP4 (T75S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547417	NM_001225.4(CASP4):c.212T>C (p.Met71Thr)	CASP4 (M15T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366093	NM_001225.4(CASP4):c.197G>A (p.Arg66His)	CASP4 (R10H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787097	NM_001225.4(CASP4):c.139G>A (p.Asp47Asn)	CASP4 (D47N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2493199	NM_001225.4(CASP4):c.129G>T (p.Lys43Asn)	CASP4 (K43N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538516	NM_001225.4(CASP4):c.128A>G (p.Lys43Arg)	CASP4 (K43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486720	NM_001225.4(CASP4):c.125A>C (p.Lys42Thr)	CASP4 (K42T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335102	NM_001225.4(CASP4):c.70G>A (p.Gly24Ser)	CASP4 (G24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 25