Related gene-specific medical variations for Gene (Select 9785) - ClinVar

Links from Gene

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3028434	NM_014003.4(DHX38):c.3004G>A (p.Ala1002Thr)	DHX38, LOC126862391 (A1002T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028433	NM_014003.4(DHX38):c.2872A>G (p.Met958Val)	DHX38, LOC126862391 (M958V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2997782	NM_014003.4(DHX38):c.3183G>A (p.Ser1061=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910762	NM_014003.4(DHX38):c.2964+3G>A	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2876952	NM_014003.4(DHX38):c.2851C>T (p.Leu951=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874285	NM_014003.4(DHX38):c.2810-8T>C	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844496	NM_014003.4(DHX38):c.3121-4C>G	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2481288	NM_014003.4(DHX38):c.2897G>A (p.Gly966Asp)	DHX38, LOC126862391 (G966D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2421792	NM_014003.4(DHX38):c.3003C>T (p.Phe1001=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178649	NM_014003.4(DHX38):c.3168G>T (p.Arg1056=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092363	NM_014003.4(DHX38):c.3116G>A (p.Arg1039Gln)	DHX38, LOC126862391 (R1039Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2090919	NM_014003.4(DHX38):c.3049C>T (p.Gln1017Ter)	DHX38, LOC126862391 (Q1017*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2082864	NM_014003.4(DHX38):c.3228C>G (p.Ala1076=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049859	NM_014003.4(DHX38):c.2965-19G>T	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023878	NM_014003.4(DHX38):c.3115C>A (p.Arg1039=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023275	NM_014003.4(DHX38):c.2825C>T (p.Thr942Ile)	DHX38, LOC126862391 (T942I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007332	NM_014003.4(DHX38):c.3088G>C (p.Asp1030His)	DHX38, LOC126862391 (D1030H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985445	NM_014003.4(DHX38):c.2802C>T (p.Asp934=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976196	NM_014003.4(DHX38):c.3189C>T (p.Gly1063=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974792	NM_014003.4(DHX38):c.2778G>A (p.Gln926=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968676	NM_014003.4(DHX38):c.2820C>T (p.Thr940=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941561	NM_014003.4(DHX38):c.3121-11_3121-10del	DHX38, LOC126862391	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1931837	NM_014003.4(DHX38):c.2973G>A (p.Glu991=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911012	NM_014003.4(DHX38):c.2791G>A (p.Gly931Arg)	DHX38, LOC126862391 (G931R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899588	NM_014003.4(DHX38):c.3030C>T (p.Thr1010=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1802696	NM_014003.4(DHX38):c.3056del (p.Lys1019fs)	DHX38, LOC126862391 (K1019fs)	Deletion (frameshift variant)	Retinitis pigmentosa 84	Gnot provided
Select item 1713969	NM_014003.4(DHX38):c.3209G>A (p.Arg1070Lys)	DHX38, LOC126862391 (R1070K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675001	NM_014003.4(DHX38):c.2809+12C>T	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674163	NM_014003.4(DHX38):c.3018C>T (p.Ser1006=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667694	NM_014003.4(DHX38):c.2810-13T>G	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664107	NM_014003.4(DHX38):c.2964+16G>C	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662962	NM_014003.4(DHX38):c.2810-11A>G	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662745	NM_014003.4(DHX38):c.2907C>T (p.Ser969=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1658787	NM_014003.4(DHX38):c.2809+19C>T	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652728	NM_014003.4(DHX38):c.2809+13C>G	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645076	NM_014003.4(DHX38):c.3121-4C>T	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642485	NM_014003.4(DHX38):c.2809+14G>T	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632329	NM_014003.4(DHX38):c.2964+12G>T	LOC126862391, DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622383	NM_014003.4(DHX38):c.3121-6C>T	DHX38, LOC126862391	Single nucleotide variant (intron variant)	DHX38-related disorder +1 more	GLikely benign
Select item 1614668	NM_014003.4(DHX38):c.3243A>T (p.Ala1081=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599410	NM_014003.4(DHX38):c.2809+13del	DHX38, LOC126862391	Deletion (intron variant)	not provided	GBenign
Select item 1580662	NM_014003.4(DHX38):c.3183G>T (p.Ser1061=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1542356	NM_014003.4(DHX38):c.3121-15C>T	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1541215	NM_014003.4(DHX38):c.3045C>T (p.Tyr1015=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1513719	NM_014003.4(DHX38):c.2838G>T (p.Met946Ile)	DHX38, LOC126862391 (M946I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503331	NM_014003.4(DHX38):c.2893A>G (p.Met965Val)	DHX38, LOC126862391 (M965V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493249	NM_014003.4(DHX38):c.3103G>T (p.Ala1035Ser)	DHX38, LOC126862391 (A1035S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490836	NM_014003.4(DHX38):c.3088G>A (p.Asp1030Asn)	DHX38, LOC126862391 (D1030N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488310	NM_014003.4(DHX38):c.3071C>A (p.Ser1024Tyr)	DHX38, LOC126862391 (S1024Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485710	NM_014003.4(DHX38):c.3193G>A (p.Asp1065Asn)	DHX38, LOC126862391 (D1065N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476447	NM_014003.4(DHX38):c.2969G>A (p.Arg990Gln)	DHX38, LOC126862391 (R990Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472315	NM_014003.4(DHX38):c.3019G>T (p.Asp1007Tyr)	DHX38, LOC126862391 (D1007Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467467	NM_014003.4(DHX38):c.2827G>A (p.Gly943Arg)	DHX38, LOC126862391 (G943R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446311	NM_014003.4(DHX38):c.3115C>T (p.Arg1039Trp)	DHX38, LOC126862391 (R1039W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425944	NM_014003.4(DHX38):c.3019G>A (p.Asp1007Asn)	DHX38, LOC126862391 (D1007N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423471	NM_014003.4(DHX38):c.3076A>G (p.Ile1026Val)	DHX38, LOC126862391 (I1026V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403246	NM_014003.4(DHX38):c.2930T>C (p.Met977Thr)	DHX38, LOC126862391 (M977T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382714	NM_014003.4(DHX38):c.3202A>G (p.Ile1068Val)	DHX38, LOC126862391 (I1068V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363937	NM_014003.4(DHX38):c.2964+3G>C	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1356767	NM_014003.4(DHX38):c.2948T>C (p.Ile983Thr)	DHX38, LOC126862391 (I983T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168223	NM_014003.4(DHX38):c.2965-15T>G	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165577	NM_014003.4(DHX38):c.2809+14G>A	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164128	NM_014003.4(DHX38):c.3121-14G>A	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1160537	NM_014003.4(DHX38):c.3246C>A (p.Ala1082=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1152732	NM_014003.4(DHX38):c.2835G>C (p.Leu945=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1143836	NM_014003.4(DHX38):c.3102T>C (p.His1034=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1143383	NM_014003.4(DHX38):c.3051G>A (p.Gln1017=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133770	NM_014003.4(DHX38):c.2863C>T (p.Leu955=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1131334	NM_014003.4(DHX38):c.3024T>C (p.His1008=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123847	NM_014003.4(DHX38):c.3204C>T (p.Ile1068=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123582	NM_014003.4(DHX38):c.2880C>T (p.Ile960=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	DHX38-related disorder +2 more	GLikely benign
Select item 1123239	NM_014003.4(DHX38):c.3216C>T (p.Cys1072=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1122135	NM_014003.4(DHX38):c.2850G>A (p.Pro950=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1104196	NM_014003.4(DHX38):c.2809+13C>T	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1095834	NM_014003.4(DHX38):c.2809+8G>A	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1093201	NM_014003.4(DHX38):c.2826C>T (p.Thr942=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1092444	NM_014003.4(DHX38):c.3120+8G>C	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1092394	NM_014003.4(DHX38):c.2790C>T (p.Leu930=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1087218	NM_014003.4(DHX38):c.2877C>T (p.Leu959=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1079116	NM_014003.4(DHX38):c.2964+10C>T	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1051619	NM_014003.4(DHX38):c.3182C>T (p.Ser1061Leu)	DHX38, LOC126862391 (S1061L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041589	NM_014003.4(DHX38):c.2809+7C>T	DHX38, LOC126862391	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1038013	NM_014003.4(DHX38):c.3055A>G (p.Lys1019Glu)	DHX38, LOC126862391 (K1019E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034487	NM_014003.4(DHX38):c.2893A>T (p.Met965Leu)	DHX38, LOC126862391 (M965L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015611	NM_014003.4(DHX38):c.3097A>G (p.Ile1033Val)	DHX38, LOC126862391 (I1033V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1007107	NM_014003.4(DHX38):c.3154A>G (p.Met1052Val)	DHX38, LOC126862391 (M1052V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1003849	NM_014003.4(DHX38):c.3235C>T (p.His1079Tyr)	DHX38, LOC126862391 (H1079Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001576	NM_014003.4(DHX38):c.3193G>C (p.Asp1065His)	DHX38, LOC126862391 (D1065H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 970101	NM_014003.4(DHX38):c.3134G>A (p.Arg1045Gln)	DHX38, LOC126862391 (R1045Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 956794	NM_014003.4(DHX38):c.3125G>A (p.Arg1042Gln)	DHX38, LOC126862391 (R1042Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 953624	NM_014003.4(DHX38):c.2823_2830del (p.Thr942fs)	LOC126862391, DHX38 (T942fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 859102	NM_014003.4(DHX38):c.2947A>G (p.Ile983Val)	DHX38, LOC126862391 (I983V)	Single nucleotide variant (missense variant)	DHX38-related disorder +1 more	GBenign/Likely benign
Select item 850448	NM_014003.4(DHX38):c.3127G>A (p.Glu1043Lys)	DHX38, LOC126862391 (E1043K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 843106	NM_014003.4(DHX38):c.2937G>A (p.Ser979=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 842571	NM_014003.4(DHX38):c.2831G>A (p.Arg944Gln)	DHX38, LOC126862391 (R944Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 791648	NM_014003.4(DHX38):c.2906C>T (p.Ser969Phe)	DHX38, LOC126862391 (S969F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708550	NM_014003.4(DHX38):c.3087C>T (p.Asn1029=)	DHX38, LOC126862391	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Links from Gene

Items: 97