DAAM1[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57783	GRCh38/hg38 14q23.1(chr14:58680457-59394168)x1	DAAM1, LINC01500 +11 more	Copy number loss	See cases	GPathogenic
Select item 3031466	NM_001270520.2(DAAM1):c.24A>G (p.Gly8=)	DAAM1	Single nucleotide variant (synonymous variant)	DAAM1-related condition	GLikely benign
Select item 2544194	NM_001270520.2(DAAM1):c.40A>G (p.Ile14Val)	DAAM1 (I14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710220	NM_001270520.2(DAAM1):c.147T>C (p.Pro49=)	DAAM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 983072	NM_001270520.2(DAAM1):c.400A>G (p.Ile134Val)	DAAM1 (I134V)	Single nucleotide variant (missense variant)	Seizure +1 more	GConflicting classifications of pathogenicity
Select item 2331382	NM_001270520.2(DAAM1):c.460G>A (p.Asp154Asn)	DAAM1 (D154N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623525	NM_001270520.2(DAAM1):c.470G>A (p.Gly157Asp)	DAAM1 (G157D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237858	NM_001270520.2(DAAM1):c.511G>A (p.Glu171Lys)	DAAM1 (E171K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459716	NM_001270520.2(DAAM1):c.527G>A (p.Arg176Gln)	DAAM1 (R176Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060418	NM_001270520.2(DAAM1):c.558G>A (p.Lys186=)	DAAM1	Single nucleotide variant (synonymous variant)	DAAM1-related condition	GBenign
Select item 2514690	NM_001270520.2(DAAM1):c.688G>A (p.Val230Met)	DAAM1 (V230M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056313	NM_001270520.2(DAAM1):c.723G>T (p.Leu241=)	DAAM1	Single nucleotide variant (synonymous variant)	DAAM1-related condition	GBenign
Select item 2247996	NM_001270520.2(DAAM1):c.976T>C (p.Ser326Pro)	DAAM1 (S326P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719367	NM_001270520.2(DAAM1):c.1134G>A (p.Pro378=)	DAAM1	Single nucleotide variant (synonymous variant)	DAAM1-related condition +1 more	GBenign
Select item 2266674	NM_001270520.2(DAAM1):c.1220G>T (p.Arg407Ile)	DAAM1 (R407I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350891	NM_001270520.2(DAAM1):c.1306G>A (p.Val436Ile)	DAAM1 (V436I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591376	NM_001270520.2(DAAM1):c.1310G>T (p.Arg437Leu)	DAAM1 (R437L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594566	NM_001270520.2(DAAM1):c.1354G>A (p.Ala452Thr)	DAAM1 (A452T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057133	NM_001270520.2(DAAM1):c.1373-6G>A	DAAM1	Single nucleotide variant (intron variant)	DAAM1-related condition	GBenign
Select item 3059031	NM_001270520.2(DAAM1):c.1389A>G (p.Gln463=)	DAAM1	Single nucleotide variant (synonymous variant)	DAAM1-related condition	GBenign
Select item 2545788	NM_001270520.2(DAAM1):c.1403A>G (p.Lys468Arg)	DAAM1 (K468R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396154	NM_001270520.2(DAAM1):c.1414G>A (p.Glu472Lys)	DAAM1 (E472K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055640	NM_001270520.2(DAAM1):c.1527G>A (p.Ala509=)	DAAM1	Single nucleotide variant (synonymous variant)	DAAM1-related condition	GBenign
Select item 720499	NM_001270520.2(DAAM1):c.1560+9T>G	DAAM1	Single nucleotide variant (intron variant)	DAAM1-related condition +1 more	GBenign
Select item 2478528	NM_001270520.2(DAAM1):c.1637G>T (p.Gly546Val)	DAAM1 (G546V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038460	NM_001270520.2(DAAM1):c.1668T>A (p.Pro556=)	DAAM1	Single nucleotide variant (synonymous variant)	DAAM1-related condition	GLikely benign
Select item 2222618	NM_001270520.2(DAAM1):c.1670T>C (p.Leu557Pro)	DAAM1 (L557P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610160	NM_001270520.2(DAAM1):c.1697C>A (p.Pro566Gln)	DAAM1 (P566Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209967	NM_001270520.2(DAAM1):c.1733C>A (p.Pro578Gln)	DAAM1 (P578Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306738	NM_001270520.2(DAAM1):c.1763C>T (p.Pro588Leu)	DAAM1 (P588L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710221	NM_001270520.2(DAAM1):c.1786C>T (p.Leu596=)	DAAM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 710222	NM_001270520.2(DAAM1):c.1788A>G (p.Leu596=)	DAAM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2373162	NM_001270520.2(DAAM1):c.1855C>A (p.Pro619Thr)	DAAM1 (P619T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 758728	NM_001270520.2(DAAM1):c.1969-1681T>C	DAAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 797758	NM_001270520.2(DAAM1):c.2037T>C (p.Asp679=)	DAAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218573	NM_001270520.2(DAAM1):c.2254T>C (p.Phe752Leu)	DAAM1 (F752L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 710036	NM_001270520.2(DAAM1):c.2410C>T (p.Leu804=)	DAAM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2405033	NM_001270520.2(DAAM1):c.2518A>G (p.Ile840Val)	DAAM1 (I850V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775348	NM_001270520.2(DAAM1):c.2593A>C (p.Asn865His)	DAAM1 (N865H +1 more)	Single nucleotide variant (missense variant)	DAAM1-related condition +1 more	GBenign
Select item 2533900	NM_001270520.2(DAAM1):c.2672G>C (p.Ser891Thr)	DAAM1 (S901T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049921	NM_001270520.2(DAAM1):c.2694+8T>C	DAAM1	Single nucleotide variant (intron variant)	DAAM1-related condition	GLikely benign
Select item 2366026	NM_001270520.2(DAAM1):c.2728C>G (p.Pro910Ala)	DAAM1 (P910A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513537	NM_001270520.2(DAAM1):c.2756G>A (p.Ser919Asn)	DAAM1 (S919N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278930	NM_001270520.2(DAAM1):c.2875C>G (p.Pro959Ala)	DAAM1 (P959A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633539	NM_001270520.2(DAAM1):c.2891G>A (p.Gly964Asp)	DAAM1 (G964D +1 more)	Single nucleotide variant (missense variant)	DAAM1-related condition	GUncertain significance
Select item 252577	NM_001270520.2(DAAM1):c.3031A>G (p.Arg1011Gly)	DAAM1 (R1011G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2234783	NM_001270520.2(DAAM1):c.3143A>G (p.Lys1048Arg)	DAAM1 (K1058R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224859	NM_001270520.2(DAAM1):c.3145C>T (p.Arg1049Cys)	DAAM1 (R1049C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351015	NM_001270520.2(DAAM1):c.3146G>A (p.Arg1049His)	DAAM1 (R1049H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2578725	GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)x1	DAAM1, ACTR10 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980495	GRCh37/hg19 14q23.1(chr14:59548539-59734022)x3	DAAM1	Copy number gain	not provided	GUncertain significance
Select item 980494	GRCh37/hg19 14q23.1(chr14:59511854-59661101)x3	DAAM1	Copy number gain	not provided	GUncertain significance
Select item 815664	GRCh37/hg19 14q23.1(chr14:59548268-59726466)x1	DAAM1	Copy number loss	not provided	GUncertain significance
Select item 564123	GRCh37/hg19 14q23.1(chr14:59527587-60119877)x3	JKAMP, GPR135 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 68