ClinVar for Gene (Select 1656) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271395	NM_004397.6(DDX6):c.224C>T (p.Thr75Ile)	DDX6 (T75I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	HINFP, MPZL2 +36 more	Duplication	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3234411	NM_004397.6(DDX6):c.865-4C>G	DDX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3081186	NM_004397.6(DDX6):c.89G>C (p.Gly30Ala)	DDX6 (G30A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081185	NM_004397.6(DDX6):c.1355A>G (p.Gln452Arg)	DDX6 (Q409R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065663	NM_004397.6(DDX6):c.1231T>C (p.Phe411Leu)	DDX6 (F303L +5 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with impaired language and dysmorphic facies	GUncertain significance
Select item 3059409	NM_004397.6(DDX6):c.1175-4dup	DDX6	Duplication (intron variant)	DDX6-related disorder	GLikely benign
Select item 2769225	NM_004397.6(DDX6):c.1396A>G (p.Lys466Glu)	DDX6 (K374E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642446	NM_004397.6(DDX6):c.729A>C (p.Ile243=)	DDX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642445	NM_004397.6(DDX6):c.865-8C>T	DDX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2637497	NM_004397.6(DDX6):c.1186C>T (p.Arg396Ter)	DDX6 (R396*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2632898	NM_004397.6(DDX6):c.593C>T (p.Ala198Val)	DDX6 (A198V)	Single nucleotide variant (missense variant)	DDX6-related disorder	GUncertain significance
Select item 2632895	NM_004397.6(DDX6):c.1036C>T (p.Arg346Ter)	DDX6 (R346*)	Single nucleotide variant (nonsense)	DDX6-related disorder	GUncertain significance
Select item 2627287	NM_004397.6(DDX6):c.107C>G (p.Thr36Arg)	DDX6 (T36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622247	NM_004397.6(DDX6):c.179A>G (p.Gln60Arg)	DDX6 (Q60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578450	NM_004397.6(DDX6):c.956G>A (p.Arg319His)	DDX6 (R319H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with impaired language and dysmorphic facies	GUncertain significance
Select item 2574413	NM_004397.6(DDX6):c.37G>T (p.Gly13Cys)	DDX6 (G13C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570812	NM_004397.6(DDX6):c.26C>T (p.Pro9Leu)	DDX6 (P9L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2511438	NM_004397.6(DDX6):c.689T>C (p.Ile230Thr)	DDX6 (I230T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505034	NM_004397.6(DDX6):c.1448C>T (p.Pro483Leu)	DDX6 (P483L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2498536	NM_004397.6(DDX6):c.1011G>T (p.Ser337=)	DDX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498254	NM_004397.6(DDX6):c.940G>A (p.Ala314Thr)	DDX6 (A314T)	Single nucleotide variant (missense variant)	Teratoma	GUncertain significance
Select item 2481980	NM_004397.6(DDX6):c.1336C>G (p.Leu446Val)	DDX6 (L446V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441657	NM_004397.6(DDX6):c.1156C>T (p.Arg386Cys)	DDX6 (R386C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440727	NM_004397.6(DDX6):c.151A>G (p.Ile51Val)	DDX6 (I51V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with impaired language and dysmorphic facies	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Inflammatory bowel disease 28 +5 more	GUncertain significance
Select item 2371719	NM_004397.6(DDX6):c.331A>G (p.Ile111Val)	DDX6 (I111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224605	NM_004397.6(DDX6):c.647-4A>G	DDX6	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 1810668	NM_004397.6(DDX6):c.1285G>A (p.Gly429Ser)	DDX6 (G429S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809848	NM_004397.6(DDX6):c.1201C>G (p.Gln401Glu)	DDX6 (Q401E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803958	NM_004397.6(DDX6):c.1052C>T (p.Ala351Val)	DDX6 (A351V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with impaired language and dysmorphic facies	GLikely pathogenic
Select item 1722401	NM_004397.6(DDX6):c.865-13G>A	DDX6	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1701634	NM_004397.6(DDX6):c.566A>G (p.Lys189Arg)	DDX6 (K189R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with impaired language and dysmorphic facies	GUncertain significance
Select item 1701177	NM_004397.6(DDX6):c.322C>T (p.Leu108=)	DDX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699744	NM_004397.6(DDX6):c.587T>C (p.Val196Ala)	DDX6 (V196A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699612	NM_004397.6(DDX6):c.241A>C (p.Lys81Gln)	DDX6 (K81Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699483	NM_004397.6(DDX6):c.1394A>T (p.Asp465Val)	DDX6 (D465V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with impaired language and dysmorphic facies	GUncertain significance
Select item 1698613	NM_004397.6(DDX6):c.647-13A>G	DDX6	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1694649	NM_004397.6(DDX6):c.191C>A (p.Thr64Asn)	DDX6 (T64N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1686616	NM_004397.6(DDX6):c.1031C>G (p.Ser344Cys)	DDX6 (S344C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684543	NM_004397.6(DDX6):c.134T>G (p.Leu45Arg)	DDX6 (L45R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with impaired language and dysmorphic facies	GUncertain significance
Select item 1678292	NM_004397.6(DDX6):c.888T>G (p.Tyr296Ter)	DDX6 (Y296*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	BCL9L, TLCD5 +73 more	Duplication	not provided	GUncertain significance
Select item 1342519	NM_004397.6(DDX6):c.-268+1_-268+23del	DDX6, LOC130006858	Deletion (splice donor variant)	Intellectual developmental disorder with impaired language and dysmorphic facies	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1300455	NM_004397.6(DDX6):c.*70C>T	DDX6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1300447	NM_004397.6(DDX6):c.*8-179A>G	DDX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255475	NM_004397.6(DDX6):c.1277-13G>A	DDX6	Single nucleotide variant (intron variant)	Intellectual developmental disorder with impaired language and dysmorphic facies +1 more	GBenign
Select item 1007237	NC_000011.9:g.(?_117856768)_(118972385_?)dup	ARCN1, ATP5MG +31 more	Duplication	Immunodeficiency 18 +4 more	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 932661	NM_004397.6(DDX6):c.1187G>A (p.Arg396Gln)	DDX6 (R396Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with impaired language and dysmorphic facies +1 more	GPathogenic/Likely pathogenic
Select item 831101	NC_000011.9:g.(?_117856768)_(118972385_?)del	CD3E, CD3G +31 more	Deletion	Inflammatory bowel disease 28 +3 more	GPathogenic
Select item 815474	GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3	VPS11, ABCG4 +33 more	Copy number gain	not provided	GUncertain significance
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 718090	NM_004397.6(DDX6):c.865-3dup	DDX6	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 694353	NM_004397.6(DDX6):c.1115A>G (p.His372Arg)	DDX6 (H372R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with impaired language and dysmorphic facies	GPathogenic
Select item 694352	NM_004397.6(DDX6):c.1171A>C (p.Thr391Pro)	DDX6 (T391P)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with impaired language and dysmorphic facies	GPathogenic
Select item 694351	NM_004397.6(DDX6):c.1172C>T (p.Thr391Ile)	DDX6 (T391I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 694350	NM_004397.6(DDX6):c.1168T>C (p.Cys390Arg)	DDX6 (C390R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with impaired language and dysmorphic facies	GPathogenic
Select item 694349	NM_004397.6(DDX6):c.1118G>A (p.Arg373Gln)	DDX6 (R373Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with impaired language and dysmorphic facies	GPathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	IFT46, JAML +36 more	Deletion	Long QT syndrome 10	GUncertain significance
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	APOC3, TBCEL +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	MSANTD2, NCAPD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	FXYD2, POU2F3 +72 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	ABCG4, ACRV1 +499 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 85