ClinVar for Gene (Select 55760) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3082193	NM_018180.3(DHX32):c.293G>T (p.Trp98Leu)	DHX32 (W98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082192	NM_018180.3(DHX32):c.2083C>G (p.Gln695Glu)	BCCIP, DHX32 (Q695E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082190	NM_018180.3(DHX32):c.1928A>G (p.His643Arg)	BCCIP, DHX32 (H643R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082188	NM_018180.3(DHX32):c.1537G>T (p.Val513Leu)	BCCIP, DHX32 (V513L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3022967	NM_018180.3(DHX32):c.2157T>C (p.Pro719=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020197	NM_018180.3(DHX32):c.1910A>G (p.Asn637Ser)	BCCIP, DHX32 (N637S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001282	NM_018180.3(DHX32):c.1696T>C (p.Cys566Arg)	BCCIP, DHX32 (C566R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999643	NM_018180.3(DHX32):c.2063+12G>A	BCCIP, DHX32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986277	NM_018180.3(DHX32):c.1645A>G (p.Ser549Gly)	BCCIP, DHX32 (S549G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984964	NM_018180.3(DHX32):c.283-10C>G	DHX32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978106	NM_018180.3(DHX32):c.32C>T (p.Ser11Phe)	DHX32 (S11F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977994	NM_018180.3(DHX32):c.1029A>G (p.Gly343=)	DHX32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975386	NM_018180.3(DHX32):c.1755T>C (p.Asp585=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975247	NM_018180.3(DHX32):c.1425T>C (p.Ser475=)	DHX32, BCCIP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2973014	NM_018180.3(DHX32):c.850-15T>G	DHX32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971488	NM_018180.3(DHX32):c.1192+5T>C	DHX32, BCCIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2971276	NM_018180.3(DHX32):c.889A>C (p.Asn297His)	DHX32 (N297H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965224	NM_018180.3(DHX32):c.1487C>T (p.Ala496Val)	BCCIP, DHX32 (A496V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2962574	NM_018180.3(DHX32):c.850-6del	DHX32	Deletion (intron variant)	not provided	GLikely benign
Select item 2960232	NM_018180.3(DHX32):c.1490_1494del (p.Ala496_Ser497insTer)	DHX32, BCCIP	Deletion (nonsense +2 more)	not provided	GUncertain significance
Select item 2956658	NM_018180.3(DHX32):c.1693+16G>A	BCCIP, DHX32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955000	NM_018180.3(DHX32):c.631C>T (p.Leu211=)	DHX32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906041	NM_018180.3(DHX32):c.1119C>T (p.Asn373=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2904121	NM_018180.3(DHX32):c.1420C>A (p.Leu474Ile)	BCCIP, DHX32 (L474I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2902494	NM_018180.3(DHX32):c.750G>C (p.Glu250Asp)	DHX32 (E250D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893473	NM_018180.3(DHX32):c.386G>A (p.Arg129Gln)	DHX32 (R129Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893078	NM_018180.3(DHX32):c.233A>G (p.Asn78Ser)	DHX32 (N78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891451	NM_018180.3(DHX32):c.210C>T (p.Ser70=)	DHX32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887902	NM_018180.3(DHX32):c.915G>A (p.Leu305=)	DHX32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882566	NM_018180.3(DHX32):c.282+6T>C	DHX32	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2874896	NM_018180.3(DHX32):c.445G>A (p.Glu149Lys)	DHX32 (E149K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874718	NM_018180.3(DHX32):c.104G>T (p.Cys35Phe)	DHX32 (C35F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874137	NM_018180.3(DHX32):c.755A>G (p.Gln252Arg)	DHX32 (Q252R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872140	NM_018180.3(DHX32):c.26C>T (p.Pro9Leu)	DHX32 (P9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871914	NM_018180.3(DHX32):c.906T>G (p.Leu302=)	DHX32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867371	NM_018180.3(DHX32):c.2133G>C (p.Gln711His)	BCCIP, DHX32 (Q711H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2866329	NM_018180.3(DHX32):c.67G>T (p.Asp23Tyr)	DHX32 (D23Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843889	NM_018180.3(DHX32):c.1694-18del	BCCIP, DHX32	Deletion (intron variant)	not provided	GLikely benign
Select item 2841033	NM_018180.3(DHX32):c.1092+12T>C	DHX32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841016	NM_018180.3(DHX32):c.525T>C (p.Phe175=)	DHX32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837463	NM_018180.3(DHX32):c.1093-11T>C	BCCIP, DHX32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825036	NM_018180.3(DHX32):c.1042T>C (p.Trp348Arg)	DHX32 (W348R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820389	NM_018180.3(DHX32):c.1805A>G (p.Tyr602Cys)	BCCIP, DHX32 (Y602C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2818929	NM_018180.3(DHX32):c.2218T>A (p.Cys740Ser)	BCCIP, DHX32 (C740S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2817434	NM_018180.3(DHX32):c.136T>C (p.Leu46=)	DHX32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817409	NM_018180.3(DHX32):c.1890G>C (p.Arg630=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2812856	NM_018180.3(DHX32):c.2193G>T (p.Glu731Asp)	BCCIP, DHX32 (E731D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2811168	NM_018180.3(DHX32):c.1370A>C (p.Gln457Pro)	BCCIP, DHX32 (Q457P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2808733	NM_018180.3(DHX32):c.214A>G (p.Met72Val)	DHX32 (M72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799981	NM_018180.3(DHX32):c.570A>C (p.Arg190Ser)	DHX32 (R190S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797478	NM_018180.3(DHX32):c.2141T>C (p.Val714Ala)	BCCIP, DHX32 (V714A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796566	NM_018180.3(DHX32):c.665T>G (p.Ile222Ser)	DHX32 (I222S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792458	NM_018180.3(DHX32):c.1313T>C (p.Ile438Thr)	BCCIP, DHX32 (I438T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2785894	NM_018180.3(DHX32):c.775A>G (p.Ile259Val)	DHX32 (I259V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782827	NM_018180.3(DHX32):c.2109T>C (p.Pro703=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776575	NM_018180.3(DHX32):c.849+7A>G	DHX32	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2754904	NM_018180.3(DHX32):c.1249A>C (p.Lys417Gln)	BCCIP, DHX32 (K417Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2752391	NM_018180.3(DHX32):c.243G>T (p.Val81=)	DHX32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745454	NM_018180.3(DHX32):c.1379A>G (p.Glu460Gly)	BCCIP, DHX32 (E460G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2743141	NM_018180.3(DHX32):c.1142G>A (p.Ser381Asn)	BCCIP, DHX32 (S381N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2742764	NM_018180.3(DHX32):c.522T>A (p.Pro174=)	DHX32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742394	NM_018180.3(DHX32):c.433G>T (p.Val145Leu)	DHX32 (V145L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737584	NM_018180.3(DHX32):c.2093del (p.Phe698fs)	BCCIP, DHX32 (F698fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2735884	NM_018180.3(DHX32):c.1693+6T>C	BCCIP, DHX32	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2726588	NM_018180.3(DHX32):c.840C>T (p.Ala280=)	DHX32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720787	NM_018180.3(DHX32):c.283-10C>T	DHX32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712114	NM_018180.3(DHX32):c.1344C>G (p.Asn448Lys)	BCCIP, DHX32 (N448K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2710471	NM_018180.3(DHX32):c.1670C>T (p.Thr557Ile)	BCCIP, DHX32 (T557I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2704361	NM_018180.3(DHX32):c.1290G>A (p.Val430=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2702315	NM_018180.3(DHX32):c.2085A>G (p.Gln695=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2693865	NM_018180.3(DHX32):c.849+15C>T	DHX32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2621165	NM_018180.3(DHX32):c.115G>A (p.Glu39Lys)	DHX32 (E39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604606	NM_018180.3(DHX32):c.2090A>G (p.Tyr697Cys)	BCCIP, DHX32 (Y697C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2558991	NM_018180.3(DHX32):c.826G>A (p.Val276Ile)	DHX32 (V276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550323	NM_018180.3(DHX32):c.388G>A (p.Val130Met)	DHX32 (V130M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541755	NM_018180.3(DHX32):c.1102C>T (p.Pro368Ser)	BCCIP, DHX32 (P368S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528045	NM_018180.3(DHX32):c.2172T>A (p.Asn724Lys)	BCCIP, DHX32 (N724K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2526720	NM_018180.3(DHX32):c.856G>A (p.Glu286Lys)	DHX32 (E286K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	HMX3, LHPP +80 more	Copy number loss	not provided	GPathogenic
Select item 2492295	NM_018180.3(DHX32):c.1985C>T (p.Pro662Leu)	BCCIP, DHX32 (P662L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2477968	NM_018180.3(DHX32):c.1939G>A (p.Ala647Thr)	BCCIP, DHX32 (A647T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2428344	NM_018180.3(DHX32):c.1121C>T (p.Ser374Leu)	BCCIP, DHX32 (S374L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2428342	NM_018180.3(DHX32):c.1773C>G (p.Leu591=)	BCCIP, DHX32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2421540	NM_018180.3(DHX32):c.1585G>T (p.Ala529Ser)	BCCIP, DHX32 (A529S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2419043	NM_018180.3(DHX32):c.1171A>T (p.Ile391Phe)	BCCIP, DHX32 (I391F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2418403	NM_018180.3(DHX32):c.1103C>T (p.Pro368Leu)	BCCIP, DHX32 (P368L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2415259	NM_018180.3(DHX32):c.896del (p.Asn299fs)	DHX32 (N299fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2310130	NM_018180.3(DHX32):c.47G>A (p.Arg16His)	DHX32 (R16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274686	NM_018180.3(DHX32):c.1160T>C (p.Ile387Thr)	BCCIP, DHX32 (I387T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2274685	NM_018180.3(DHX32):c.1158G>T (p.Glu386Asp)	BCCIP, DHX32 (E386D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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