ClinVar for Gene (Select 1665) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271846	NM_001358.3(DHX15):c.2042C>T (p.Thr681Ile)	DHX15 (T681I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271845	NM_001358.3(DHX15):c.131G>A (p.Arg44His)	DHX15 (R44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271844	NM_001358.3(DHX15):c.275C>T (p.Thr92Met)	DHX15 (T92M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082146	NM_001358.3(DHX15):c.2330A>G (p.Lys777Arg)	DHX15 (K777R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082145	NM_001358.3(DHX15):c.1975A>G (p.Asn659Asp)	DHX15 (N659D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082144	NM_001358.3(DHX15):c.1724T>C (p.Val575Ala)	DHX15 (V575A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2654696	NM_001358.3(DHX15):c.354C>T (p.Phe118=)	DHX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2570674	NM_001358.3(DHX15):c.1327A>G (p.Lys443Glu)	DHX15 (K443E)	Single nucleotide variant (missense variant)	Seizure +7 more	GUncertain significance
Select item 2537601	NM_001358.3(DHX15):c.304C>T (p.His102Tyr)	DHX15 (H102Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533884	NM_001358.3(DHX15):c.1195C>T (p.Arg399Cys)	DHX15 (R399C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524899	NM_001358.3(DHX15):c.326C>T (p.Thr109Met)	DHX15 (T109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518999	NM_001358.3(DHX15):c.286C>T (p.His96Tyr)	DHX15 (H96Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518723	NM_001358.3(DHX15):c.125G>A (p.Arg42Gln)	DHX15 (R42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509325	NM_001358.3(DHX15):c.302C>T (p.Thr101Met)	DHX15 (T101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478193	NM_001358.3(DHX15):c.727C>T (p.Arg243Cys)	DHX15 (R243C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 2321639	NM_001358.3(DHX15):c.314A>G (p.His105Arg)	DHX15 (H105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307975	NM_001358.3(DHX15):c.550C>G (p.Pro184Ala)	DHX15 (P184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227187	NM_001358.3(DHX15):c.2350A>G (p.Ile784Val)	DHX15 (I784V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226097	NM_001358.3(DHX15):c.65C>T (p.Thr22Ile)	DHX15 (T22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809003	GRCh37/hg19 4p15.32-15.2(chr4:16249194-24864955)x1	ADGRA3, CCDC149 +16 more	Copy number loss	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527079	GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)	ANAPC4, CCDC149 +15 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527077	GRCh37/hg19 4p15.31-14(chr4:19892850-37325128)	ADGRA3, ANAPC4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 932460	NM_001358.3(DHX15):c.999A>G (p.Glu333=)	DHX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814537	GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1	ADGRA3, ANAPC4 +19 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 625782	GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281)	ADGRA3, DHX15 +5 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 625699	GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	ADGRA3, ANAPC4 +42 more	Copy number loss	not provided	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253450	GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1	ZCCHC4, RBPJ +14 more	Copy number loss	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 146078	GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1	ANAPC4, CCDC149 +101 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 53