Related gene-specific medical variations for Gene (Select 55096) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274368	NM_018029.4(EBLN2):c.494C>G (p.Ala165Gly)	EBLN2, PPP4R2 (A165G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274367	NM_018029.4(EBLN2):c.749G>T (p.Gly250Val)	EBLN2, PPP4R2 (G250V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086878	NM_018029.4(EBLN2):c.550C>T (p.Arg184Cys)	EBLN2, PPP4R2 (R184C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086877	NM_018029.4(EBLN2):c.527C>G (p.Ala176Gly)	EBLN2, PPP4R2 (A176G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086875	NM_018029.4(EBLN2):c.478A>G (p.Arg160Gly)	EBLN2, PPP4R2 (R160G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086874	NM_018029.4(EBLN2):c.43A>C (p.Ser15Arg)	EBLN2, PPP4R2 (S15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086873	NM_018029.4(EBLN2):c.419T>C (p.Leu140Ser)	EBLN2, PPP4R2 (L140S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086872	NM_018029.4(EBLN2):c.392T>A (p.Phe131Tyr)	EBLN2, PPP4R2 (F131Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086871	NM_018029.4(EBLN2):c.389G>A (p.Cys130Tyr)	EBLN2, PPP4R2 (C130Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086870	NM_018029.4(EBLN2):c.374G>A (p.Ser125Asn)	EBLN2, PPP4R2 (S125N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086869	NM_018029.4(EBLN2):c.167A>G (p.Gln56Arg)	EBLN2, PPP4R2 (Q56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086868	NM_018029.4(EBLN2):c.109A>G (p.Ile37Val)	EBLN2, PPP4R2 (I37V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620260	NM_018029.4(EBLN2):c.289A>G (p.Ile97Val)	EBLN2, PPP4R2 (I97V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558437	NM_018029.4(EBLN2):c.172A>G (p.Ser58Gly)	EBLN2, PPP4R2 (S58G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515105	NM_018029.4(EBLN2):c.800A>G (p.Lys267Arg)	EBLN2, PPP4R2 (K267R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508965	NM_018029.4(EBLN2):c.148C>T (p.His50Tyr)	EBLN2, PPP4R2 (H50Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460745	NM_018029.4(EBLN2):c.593G>T (p.Ser198Ile)	EBLN2, PPP4R2 (S198I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411323	NM_018029.4(EBLN2):c.523A>G (p.Ile175Val)	EBLN2, PPP4R2 (I175V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400428	NM_018029.4(EBLN2):c.806G>A (p.Arg269His)	EBLN2, PPP4R2 (R269H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396760	NM_018029.4(EBLN2):c.655A>G (p.Ile219Val)	EBLN2, PPP4R2 (I219V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380792	NM_018029.4(EBLN2):c.298A>C (p.Ile100Leu)	EBLN2, PPP4R2 (I100L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343291	NM_018029.4(EBLN2):c.169C>G (p.Pro57Ala)	EBLN2, PPP4R2 (P57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339875	NM_018029.4(EBLN2):c.320C>T (p.Ala107Val)	EBLN2, PPP4R2 (A107V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323574	NM_018029.4(EBLN2):c.814A>C (p.Ser272Arg)	EBLN2, PPP4R2 (S272R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313973	NM_018029.4(EBLN2):c.431G>A (p.Gly144Asp)	EBLN2, PPP4R2 (G144D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298333	NM_018029.4(EBLN2):c.544G>C (p.Val182Leu)	EBLN2, PPP4R2 (V182L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292182	NM_018029.4(EBLN2):c.399T>A (p.Phe133Leu)	EBLN2, PPP4R2 (F133L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264767	NM_018029.4(EBLN2):c.187G>T (p.Asp63Tyr)	EBLN2, PPP4R2 (D63Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 28