ClinVar for Gene (Select 90957) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3054943	NM_198963.3(DHX57):c.475C>T (p.Pro159Ser)	DHX57 (P159S +1 more)	Single nucleotide variant (missense variant)	DHX57-related condition	GLikely benign
Select item 3054866	NM_198963.3(DHX57):c.2856T>G (p.Phe952Leu)	DHX57 (F850L +1 more)	Single nucleotide variant (missense variant)	DHX57-related condition	GLikely benign
Select item 3054128	NM_198963.3(DHX57):c.3053A>G (p.Gln1018Arg)	DHX57 (Q1018R +1 more)	Single nucleotide variant (missense variant)	DHX57-related condition	GLikely benign
Select item 3048734	NM_198963.3(DHX57):c.3291T>A (p.Phe1097Leu)	DHX57 (F1097L +1 more)	Single nucleotide variant (missense variant)	DHX57-related condition	GLikely benign
Select item 3046135	NM_198963.3(DHX57):c.1835G>A (p.Arg612His)	DHX57 (R510H +1 more)	Single nucleotide variant (missense variant)	DHX57-related condition	GLikely benign
Select item 3038695	NM_198963.3(DHX57):c.212G>A (p.Arg71Lys)	DHX57 (R71K)	Single nucleotide variant (missense variant +1 more)	DHX57-related condition	GLikely benign
Select item 3037682	NM_198963.3(DHX57):c.3040G>C (p.Ala1014Pro)	DHX57 (A1014P +1 more)	Single nucleotide variant (missense variant)	DHX57-related condition	GLikely benign
Select item 2684453	GRCh37/hg19 2p22.1(chr2:39003525-39080554)x1	DHX57, GEMIN6	Copy number loss	not provided	GUncertain significance
Select item 2650842	NM_198963.3(DHX57):c.3966C>T (p.Phe1322=)	DHX57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650841	NM_198963.3(DHX57):c.4103C>T (p.Thr1368Met)	DHX57 (T1266M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621214	NM_198963.3(DHX57):c.3041C>T (p.Ala1014Val)	DHX57 (A912V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605742	NM_198963.3(DHX57):c.1424C>T (p.Ser475Leu)	DHX57 (S475L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604379	NM_198963.3(DHX57):c.731G>A (p.Cys244Tyr)	DHX57 (C142Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601391	NM_198963.3(DHX57):c.1313A>G (p.Asn438Ser)	DHX57 (N438S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598871	NM_198963.3(DHX57):c.3257C>G (p.Thr1086Ser)	DHX57 (T1086S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598646	NM_198963.3(DHX57):c.593G>A (p.Arg198His)	DHX57 (R198H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2598040	NM_198963.3(DHX57):c.3457G>A (p.Gly1153Arg)	DHX57 (G1051R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596589	NM_198963.3(DHX57):c.3317A>C (p.Glu1106Ala)	DHX57 (E1004A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595881	NM_198963.3(DHX57):c.3874G>A (p.Val1292Ile)	DHX57 (V1190I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595369	NM_198963.3(DHX57):c.3431A>T (p.Asn1144Ile)	DHX57 (N1042I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588283	NM_198963.3(DHX57):c.494A>G (p.Glu165Gly)	DHX57 (E63G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570022	NM_198963.3(DHX57):c.1238C>G (p.Thr413Ser)	DHX57 (T311S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556930	NM_198963.3(DHX57):c.2167C>T (p.Arg723Cys)	DHX57 (R621C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546262	NM_198963.3(DHX57):c.1598A>G (p.Gln533Arg)	DHX57 (Q533R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541199	NM_198963.3(DHX57):c.374C>A (p.Ala125Asp)	DHX57 (A125D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538659	NM_198963.3(DHX57):c.3542G>C (p.Arg1181Thr)	DHX57 (R1181T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531961	NM_198963.3(DHX57):c.4059G>C (p.Gln1353His)	DHX57 (Q1353H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525592	NM_198963.3(DHX57):c.115G>A (p.Gly39Ser)	DHX57 (G39S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515529	NM_198963.3(DHX57):c.2820T>A (p.Asp940Glu)	DHX57 (D838E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514342	NM_198963.3(DHX57):c.2630G>A (p.Arg877His)	DHX57 (R775H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492423	NM_198963.3(DHX57):c.451G>A (p.Ala151Thr)	DHX57 (A49T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488448	NM_198963.3(DHX57):c.928A>C (p.Lys310Gln)	DHX57 (K310Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487563	NM_198963.3(DHX57):c.3256A>G (p.Thr1086Ala)	DHX57 (T1086A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486395	NM_198963.3(DHX57):c.3325C>G (p.Gln1109Glu)	DHX57 (Q1109E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455731	NM_198963.3(DHX57):c.1211C>T (p.Ser404Leu)	DHX57 (S404L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425393	NC_000002.11:g.(?_37334416)_(39347563_?)dup	ARHGEF33, ATL2 +17 more	Duplication	RASopathy	GPathogenic
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2410748	NM_198963.3(DHX57):c.1446G>C (p.Glu482Asp)	DHX57 (E482D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405189	NM_198963.3(DHX57):c.4114G>C (p.Gly1372Arg)	DHX57 (G1270R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397914	NM_198963.3(DHX57):c.1288C>T (p.His430Tyr)	DHX57 (H430Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383817	NM_198963.3(DHX57):c.706G>A (p.Val236Ile)	DHX57 (V134I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377642	NM_198963.3(DHX57):c.371A>C (p.Asp124Ala)	DHX57 (D22A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375880	NM_198963.3(DHX57):c.541G>T (p.Val181Phe)	DHX57 (V181F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370324	NM_198963.3(DHX57):c.47G>C (p.Gly16Ala)	DHX57 (G16A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369088	NM_198963.3(DHX57):c.358G>C (p.Glu120Gln)	DHX57 (E120Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361182	NM_198963.3(DHX57):c.80G>A (p.Arg27Lys)	DHX57 (R27K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353905	NM_198963.3(DHX57):c.2149G>A (p.Val717Ile)	DHX57 (V615I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353646	NM_198963.3(DHX57):c.236G>A (p.Ser79Asn)	DHX57 (S79N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351158	NM_198963.3(DHX57):c.3079C>A (p.Pro1027Thr)	DHX57 (P1027T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312971	NM_198963.3(DHX57):c.1169C>G (p.Ser390Cys)	DHX57 (S288C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311518	NM_198963.3(DHX57):c.2458A>G (p.Ile820Val)	DHX57 (I718V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2295847	NM_198963.3(DHX57):c.3682G>T (p.Val1228Leu)	DHX57 (V1126L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278416	NM_198963.3(DHX57):c.2341C>T (p.Leu781Phe)	DHX57 (L679F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275264	NM_198963.3(DHX57):c.2449A>G (p.Thr817Ala)	DHX57 (T715A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273508	NM_198963.3(DHX57):c.2306C>T (p.Ala769Val)	DHX57 (A667V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257571	NM_198963.3(DHX57):c.2467T>A (p.Phe823Ile)	DHX57 (F721I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256961	NM_198963.3(DHX57):c.101A>G (p.His34Arg)	DHX57 (H34R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256561	NM_198963.3(DHX57):c.143G>A (p.Gly48Asp)	DHX57 (G48D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248693	NM_198963.3(DHX57):c.1943T>C (p.Val648Ala)	DHX57 (V648A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244337	NM_198963.3(DHX57):c.592C>T (p.Arg198Cys)	DHX57 (R96C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236471	NM_198963.3(DHX57):c.1109C>T (p.Pro370Leu)	DHX57 (P268L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234914	NM_198963.3(DHX57):c.2277A>C (p.Glu759Asp)	DHX57 (E759D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232263	NM_198963.3(DHX57):c.3538C>G (p.Leu1180Val)	DHX57 (L1078V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222621	NM_198963.3(DHX57):c.1589C>T (p.Ala530Val)	DHX57 (A428V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213588	NM_198963.3(DHX57):c.1538C>T (p.Ser513Leu)	DHX57 (S411L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212493	NM_198963.3(DHX57):c.2293C>T (p.Arg765Trp)	DHX57 (R765W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211457	NM_198963.3(DHX57):c.982A>C (p.Asn328His)	DHX57 (N226H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205691	NM_198963.3(DHX57):c.100C>T (p.His34Tyr)	DHX57 (H34Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204771	NM_198963.3(DHX57):c.290C>T (p.Pro97Leu)	DHX57 (P97L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1808399	GRCh37/hg19 2p22.1(chr2:39040762-39271911)x1	ARHGEF33, DHX57 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 979968	GRCh37/hg19 2p22.2-22.1(chr2:38012532-39548268)x3	GALM, SRSF7 +12 more	Copy number gain	not provided	GUncertain significance
Select item 635956	NC_000002.11:g.39053852_42501893dup	SLC8A1, SOS1 +11 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 584365	NC_000002.11:g.(?_38297845)_(39347583_?)dup	GALM, MORN2 +9 more	Duplication	RASopathy	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	PKDCC, PLEKHH2 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 149818	GRCh38/hg38 2p22.2-22.1(chr2:38105199-38892257)x3	ARHGEF33, ATL2 +36 more	Copy number gain	See cases	GUncertain significance
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 96