ClinVar for Gene (Select 54606) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2657436	NM_019082.4(DDX56):c.1578C>A (p.Ser526=)	DDX56	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604962	NM_019082.4(DDX56):c.499G>A (p.Glu167Lys)	DDX56 (E167K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598242	NM_019082.4(DDX56):c.1504C>T (p.Arg502Cys)	DDX56 (R502C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595796	NM_019082.4(DDX56):c.1459C>T (p.Pro487Ser)	DDX56 (P487S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594849	NM_019082.4(DDX56):c.653T>C (p.Leu218Pro)	DDX56 (L218P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536053	NM_019082.4(DDX56):c.883C>T (p.Arg295Cys)	DDX56 (R295C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535495	NM_019082.4(DDX56):c.338T>G (p.Val113Gly)	DDX56 (V113G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523212	NM_019082.4(DDX56):c.455A>G (p.Asp152Gly)	DDX56 (D152G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518085	NM_019082.4(DDX56):c.347C>T (p.Ala116Val)	DDX56 (A116V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463514	NM_019082.4(DDX56):c.565C>T (p.Arg189Trp)	DDX56 (R189W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423978	NC_000007.13:g.(?_43810758)_(44747598_?)del	AEBP1, BLVRA +17 more	Deletion	not provided	GUncertain significance
Select item 2395576	NM_019082.4(DDX56):c.253G>A (p.Gly85Ser)	DDX56 (G85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395541	NM_019082.4(DDX56):c.334G>A (p.Asp112Asn)	DDX56 (D112N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380965	NM_019082.4(DDX56):c.433A>G (p.Ile145Val)	DDX56 (I145V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375672	NM_019082.4(DDX56):c.1524C>G (p.His508Gln)	DDX56 (H468Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355602	NM_019082.4(DDX56):c.1256G>A (p.Arg419Gln)	DDX56 (R379Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348833	NM_019082.4(DDX56):c.286C>T (p.Arg96Trp)	DDX56 (R96W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341874	NM_019082.4(DDX56):c.212A>G (p.His71Arg)	DDX56, LOC129998361 (H71R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339882	NM_019082.4(DDX56):c.340C>G (p.Arg114Gly)	DDX56 (R114G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327775	NM_019082.4(DDX56):c.359C>A (p.Ala120Asp)	DDX56 (A120D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326561	NM_019082.4(DDX56):c.302T>C (p.Met101Thr)	DDX56 (M101T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311294	NM_019082.4(DDX56):c.1150A>G (p.Ile384Val)	DDX56 (I384V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292172	NM_019082.4(DDX56):c.1544C>T (p.Ser515Phe)	DDX56 (S475F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258035	NM_019082.4(DDX56):c.892T>C (p.Cys298Arg)	DDX56 (C298R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250594	NM_019082.4(DDX56):c.286C>G (p.Arg96Gly)	DDX56 (R96G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242583	NM_019082.4(DDX56):c.431G>A (p.Arg144His)	DDX56 (R144H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220759	NM_019082.4(DDX56):c.742C>A (p.Leu248Met)	DDX56 (L248M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206963	NM_019082.4(DDX56):c.1060G>A (p.Val354Met)	DDX56 (V314M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206889	NM_019082.4(DDX56):c.251G>A (p.Arg84Lys)	DDX56 (R84K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 774874	NM_019082.4(DDX56):c.746A>G (p.Tyr249Cys)	DDX56 (Y249C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774873	NM_019082.4(DDX56):c.1237C>T (p.Leu413=)	DDX56	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712914	NM_019082.4(DDX56):c.255C>T (p.Gly85=)	DDX56	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395209	GRCh37/hg19 7p13(chr7:44298464-44663913)x3	CAMK2B, DDX56 +4 more	Copy number gain	See cases	GUncertain significance
Select item 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ADCY1, AEBP1 +41 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 151519	GRCh38/hg38 7p13(chr7:44345798-45076469)x3	CCM2, DDX56 +58 more	Copy number gain	See cases	GUncertain significance
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	AEBP1, BLVRA +231 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 146583	GRCh38/hg38 7p13(chr7:44287818-44581121)x3	CAMK2B, DDX56 +10 more	Copy number gain	See cases	GBenign
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	LOC113748397, LOC113748398 +200 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60