Related gene-specific medical variations for Gene (Select 2118) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276629	NM_001079675.5(ETV4):c.1336C>T (p.Arg446Trp)	DHX8, ETV4 (R407W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090772	NM_001079675.5(ETV4):c.934G>C (p.Val312Leu)	DHX8, ETV4 (V307L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090771	NM_001079675.5(ETV4):c.885G>C (p.Met295Ile)	DHX8, ETV4 (M18I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090770	NM_001079675.5(ETV4):c.791C>T (p.Thr264Met)	DHX8, ETV4 (T225M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090767	NM_001079675.5(ETV4):c.346C>T (p.Leu116Phe)	DHX8, ETV4 (L116F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090765	NM_001079675.5(ETV4):c.1388C>G (p.Pro463Arg)	DHX8, ETV4 (P424R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090764	NM_001079675.5(ETV4):c.1351G>A (p.Glu451Lys)	DHX8, ETV4 (E174K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090763	NM_001079675.5(ETV4):c.1015G>A (p.Gly339Ser)	DHX8, ETV4 (G339S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052794	NM_001079675.5(ETV4):c.523C>A (p.His175Asn)	DHX8, ETV4 (H136N +2 more)	Single nucleotide variant (missense variant +1 more)	ETV4-related disorder	GLikely benign
Select item 2647814	NM_001079675.5(ETV4):c.1309C>T (p.Arg437Cys)	DHX8, ETV4 (R160C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2532242	NM_001079675.5(ETV4):c.604C>T (p.Arg202Trp)	DHX8, ETV4 (R201W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522754	NM_001079675.5(ETV4):c.998C>T (p.Pro333Leu)	DHX8, ETV4 (P56L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510714	NM_001079675.5(ETV4):c.694C>A (p.Pro232Thr)	DHX8, ETV4 (P193T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487879	NM_001079675.5(ETV4):c.877G>T (p.Gly293Trp)	DHX8, ETV4 (G16W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481988	NM_001079675.5(ETV4):c.619G>A (p.Ala207Thr)	DHX8, ETV4 (A168T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458298	NM_001079675.5(ETV4):c.1078A>G (p.Ile360Val)	DHX8, ETV4 (I355V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411036	NM_001079675.5(ETV4):c.217A>G (p.Ser73Gly)	DHX8, ETV4 (S34G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408613	NM_001079675.5(ETV4):c.1427T>C (p.Phe476Ser)	DHX8, ETV4 (F437S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395711	NM_001079675.5(ETV4):c.1393T>C (p.Tyr465His)	DHX8, ETV4 (Y460H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383129	NM_001079675.5(ETV4):c.379T>C (p.Ser127Pro)	DHX8, ETV4 (S88P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372870	NM_001079675.5(ETV4):c.605G>A (p.Arg202Gln)	DHX8, ETV4 (R202Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357803	NM_001079675.5(ETV4):c.934G>A (p.Val312Ile)	DHX8, ETV4 (V307I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335920	NM_001079675.5(ETV4):c.285C>G (p.Ile95Met)	DHX8, ETV4 (I94M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335522	NM_001079675.5(ETV4):c.573T>G (p.Ile191Met)	DHX8, ETV4 (I191M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323810	NM_001079675.5(ETV4):c.896A>G (p.Tyr299Cys)	DHX8, ETV4 (Y22C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294722	NM_001079675.5(ETV4):c.308G>A (p.Arg103His)	DHX8, ETV4 (R102H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291381	NM_001079675.5(ETV4):c.716A>G (p.Gln239Arg)	DHX8, ETV4 (Q200R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278832	NM_001079675.5(ETV4):c.223G>A (p.Glu75Lys)	DHX8, ETV4 (E36K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247343	NM_001079675.5(ETV4):c.980G>A (p.Gly327Asp)	DHX8, ETV4 (G322D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238985	NM_001079675.5(ETV4):c.503C>T (p.Thr168Ile)	DHX8, ETV4 (T168I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235670	NM_001079675.5(ETV4):c.1004A>G (p.Tyr335Cys)	DHX8, ETV4 (Y334C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1344611	NM_001079675.5(ETV4):c.1244G>A (p.Arg415His)	DHX8, ETV4 (R138H +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1295940	NM_001079675.5(ETV4):c.812-454AC[9]	DHX8, ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1274156	NM_001079675.5(ETV4):c.256+103C>A	ETV4, DHX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266831	NM_001079675.5(ETV4):c.1129-107C>T	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260653	NM_001079675.5(ETV4):c.812-429CG[3]	DHX8, ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 1257943	NM_001079675.5(ETV4):c.812-428G>A	ETV4, DHX8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249580	NM_001079675.5(ETV4):c.546-91G>A	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243936	NM_001079675.5(ETV4):c.1231-137A>G	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241567	NM_001079675.5(ETV4):c.812-454A>T	DHX8, ETV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241207	NM_001079675.5(ETV4):c.256+285GTTT[5]	DHX8, ETV4	Microsatellite (intron variant)	not provided	GBenign
Select item 779021	NM_001079675.5(ETV4):c.583T>A (p.Phe195Ile)	DHX8, ETV4 (F156I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 768888	NM_001079675.5(ETV4):c.278C>G (p.Thr93Ser)	DHX8, ETV4 (T54S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 739778	NM_001079675.5(ETV4):c.549C>T (p.Ser183=)	DHX8, ETV4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 732873	NM_001079675.5(ETV4):c.343C>T (p.Pro115Ser)	DHX8, ETV4 (P76S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 732059	NM_001079675.5(ETV4):c.1298C>T (p.Pro433Leu)	DHX8, ETV4 (P156L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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Links from Gene

Items: 46