DDN[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 2622500	NM_015086.2(DDN):c.2064C>A (p.Ser688Arg)	DDN (S688R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080785	NM_015086.2(DDN):c.1987G>A (p.Gly663Arg)	DDN (G663R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244708	NM_015086.2(DDN):c.1982A>G (p.Glu661Gly)	DDN (E661G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2330533	NM_015086.2(DDN):c.1968G>C (p.Glu656Asp)	DDN (E656D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264253	NM_015086.2(DDN):c.1955C>T (p.Ser652Phe)	DDN (S652F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080784	NM_015086.2(DDN):c.1896G>T (p.Glu632Asp)	DDN, LOC130007811 (E632D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523722	NM_015086.2(DDN):c.1793G>C (p.Arg598Pro)	DDN, LOC130007811 (R598P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080783	NM_015086.2(DDN):c.1792C>T (p.Arg598Trp)	DDN, LOC130007811 (R598W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080782	NM_015086.2(DDN):c.1753G>A (p.Glu585Lys)	DDN, LOC130007811 (E585K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364904	NM_015086.2(DDN):c.1747A>G (p.Arg583Gly)	DDN, LOC130007811 (R583G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080780	NM_015086.2(DDN):c.1715C>T (p.Ala572Val)	DDN, LOC130007811 (A572V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548522	NM_015086.2(DDN):c.1688C>T (p.Thr563Met)	DDN, LOC130007811 (T563M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235123	NM_015086.2(DDN):c.1676G>A (p.Arg559Gln)	DDN, LOC130007811 (R559Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374076	NM_015086.2(DDN):c.1658C>G (p.Ala553Gly)	DDN, LOC130007811 (A553G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474398	NM_015086.2(DDN):c.1609G>T (p.Gly537Trp)	DDN, LOC130007811 (G537W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600302	NM_015086.2(DDN):c.1607C>T (p.Pro536Leu)	DDN, LOC130007811 (P536L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341953	NM_015086.2(DDN):c.1603A>G (p.Arg535Gly)	DDN, LOC130007811 (R535G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080779	NM_015086.2(DDN):c.1511C>T (p.Thr504Met)	DDN (T504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233291	NM_015086.2(DDN):c.1462G>A (p.Asp488Asn)	DDN (D488N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271206	NM_015086.2(DDN):c.1451G>C (p.Arg484Pro)	DDN (R484P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336386	NM_015086.2(DDN):c.1450C>G (p.Arg484Gly)	DDN (R484G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273416	NM_015086.2(DDN):c.1391C>A (p.Ser464Tyr)	DDN (S464Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271207	NM_015086.2(DDN):c.1376G>T (p.Cys459Phe)	DDN (C459F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080778	NM_015086.2(DDN):c.1258G>A (p.Glu420Lys)	DDN, LOC130007812 (E420K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080777	NM_015086.2(DDN):c.1242A>C (p.Glu414Asp)	DDN, LOC130007812 (E414D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776701	NM_015086.2(DDN):c.1073C>G (p.Pro358Arg)	DDN (P358R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2247274	NM_015086.2(DDN):c.1072C>G (p.Pro358Ala)	DDN (P358A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620999	NM_015086.2(DDN):c.1054A>C (p.Thr352Pro)	DDN (T352P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212223	NM_015086.2(DDN):c.1021G>A (p.Ala341Thr)	DDN (A341T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352617	NM_015086.2(DDN):c.823C>T (p.Pro275Ser)	DDN, LOC130007813 (P275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319137	NM_015086.2(DDN):c.817C>A (p.Leu273Met)	DDN, LOC130007813 (L273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215344	NM_015086.2(DDN):c.805A>C (p.Thr269Pro)	DDN, LOC130007813 (T269P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271210	NM_015086.2(DDN):c.739G>T (p.Gly247Trp)	DDN (G247W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642930	NM_015086.2(DDN):c.738C>G (p.Pro246=)	DDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2532284	NM_015086.2(DDN):c.676C>T (p.Pro226Ser)	DDN, LOC130007814 (P226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341873	NM_015086.2(DDN):c.616C>T (p.His206Tyr)	LOC130007814, DDN (H206Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080789	NM_015086.2(DDN):c.554C>T (p.Pro185Leu)	DDN, LOC130007814 (P185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592986	NM_015086.2(DDN):c.535G>A (p.Ala179Thr)	DDN, LOC130007814 (A179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404557	NM_015086.2(DDN):c.526C>G (p.Arg176Gly)	DDN, DDN-AS1 +1 more (R176G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3080788	NM_015086.2(DDN):c.521C>A (p.Ala174Glu)	DDN, DDN-AS1 +1 more (A174E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2366587	NM_015086.2(DDN):c.506C>T (p.Ala169Val)	DDN, DDN-AS1 +1 more (A169V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2243929	NM_015086.2(DDN):c.460G>A (p.Ala154Thr)	DDN, DDN-AS1 +1 more (A154T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3271208	NM_015086.2(DDN):c.272T>A (p.Leu91Gln)	DDN, DDN-AS1 +1 more (L91Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2327083	NM_015086.2(DDN):c.272T>C (p.Leu91Pro)	DDN, DDN-AS1 +1 more (L91P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3080787	NM_015086.2(DDN):c.241C>T (p.Pro81Ser)	DDN, DDN-AS1 +1 more (P81S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3080786	NM_015086.2(DDN):c.205C>A (p.Arg69Ser)	DDN, DDN-AS1 (R69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616920	NM_015086.2(DDN):c.205C>T (p.Arg69Cys)	DDN, DDN-AS1 (R69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254062	NM_015086.2(DDN):c.163A>T (p.Met55Leu)	DDN, DDN-AS1 (M55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544535	NM_015086.2(DDN):c.37A>G (p.Ser13Gly)	DDN, DDN-AS1 (S13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244281	NC_000012.11:g.(?_49162374)_(49437585_?)dup	ADCY6, ARF3 +10 more	Duplication	Kabuki syndrome	GUncertain significance
Select item 3244280	NC_000012.11:g.(?_49298120)_(49488295_?)dup	ARF3, CCDC65 +8 more	Duplication	Kabuki syndrome	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 633775	GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1	ADCY6, ARF3 +13 more	Copy number loss	Kabuki syndrome 1	GPathogenic
Select item 563945	GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3	CCDC65, WNT10B +14 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 62