DDAH1[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 2288864	NM_012137.4(DDAH1):c.786G>A (p.Met262Ile)	DDAH1 (M159I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336385	NM_012137.4(DDAH1):c.766A>G (p.Met256Val)	DDAH1 (M156V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542061	NM_012137.4(DDAH1):c.710G>A (p.Arg237Gln)	DDAH1 (R134Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213419	NM_012137.4(DDAH1):c.697G>A (p.Val233Ile)	DDAH1 (V130I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549208	NM_012137.4(DDAH1):c.619C>T (p.His207Tyr)	DDAH1 (H207Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556343	NM_012137.4(DDAH1):c.290G>A (p.Ser97Asn)	DDAH1, LOC129930871 (S97N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080695	NM_012137.4(DDAH1):c.274C>G (p.Arg92Gly)	DDAH1 (R92G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080694	NM_012137.4(DDAH1):c.158T>C (p.Val53Ala)	DDAH1 (V53A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512075	NM_012137.4(DDAH1):c.119T>C (p.Val40Ala)	DDAH1 (V40A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463374	NM_012137.4(DDAH1):c.20C>G (p.Pro7Arg)	DDAH1, LOC129930872 (P7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1289550	NM_001134445.2(DDAH1):c.-7+30723_-7+30726dup	DDAH1	Duplication (intron variant)	not provided	GBenign
Select item 3062611	GRCh37/hg19 1p22.3(chr1:85513068-86105378)x3	BCL10, C1orf52 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	IFI44L, LHX8 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807925	GRCh37/hg19 1p22.3(chr1:85878203-86849716)x1	CCN1, COL24A1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1807732	GRCh37/hg19 1p22.3(chr1:85667594-85875622)x3	BCL10, C1orf52 +1 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1341227	GRCh37/hg19 1p22.3(chr1:85761564-86703902)x1	CCN1, COL24A1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 442811	GRCh37/hg19 1p22.3(chr1:86027015-86606921)x3	CCN1, COL24A1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442548	GRCh37/hg19 1p22.3(chr1:85761564-86703902)x1	CCN1, COL24A1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442121	GRCh37/hg19 1p22.3(chr1:86006704-86727751)x3	CCN1, COL24A1 +2 more	Copy number gain	See cases	GLikely benign
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic

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Items: 31