"GeneDx"[submitter] AND "DNHD1"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 1272652	NM_144666.3(DNHD1):c.1252C>T (p.His418Tyr)	DNHD1 (H418Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3064044	NM_144666.3(DNHD1):c.1324G>A (p.Glu442Lys)	DNHD1 (E442K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3342969	NM_144666.3(DNHD1):c.1628_1631dup (p.Ala545fs)	DNHD1 (A545fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1183642	NM_144666.3(DNHD1):c.1865A>C (p.Asp622Ala)	DNHD1 (D622A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1287986	NM_144666.3(DNHD1):c.2081A>G (p.Asn694Ser)	DNHD1 (N694S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1283833	NM_144666.3(DNHD1):c.2090A>G (p.Gln697Arg)	DNHD1 (Q697R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 674309	NM_144666.3(DNHD1):c.2305G>A (p.Gly769Arg)	DNHD1 (G769R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1244174	NM_144666.3(DNHD1):c.2536C>A (p.Leu846Met)	DNHD1 (L846M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 682604	NM_144666.3(DNHD1):c.3612C>T (p.Gly1204=)	DNHD1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3342575	NM_144666.3(DNHD1):c.3661A>G (p.Ser1221Gly)	DNHD1 (S1221G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342731	NM_144666.3(DNHD1):c.3838C>G (p.Pro1280Ala)	DNHD1 (P1280A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342713	NM_144666.3(DNHD1):c.4744C>T (p.Arg1582Trp)	DNHD1 (R1582W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375871	NM_144666.3(DNHD1):c.5152G>A (p.Glu1718Lys)	DNHD1 (E1718K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252143	NM_144666.3(DNHD1):c.5737_5738insATGCCCTACTGC (p.Leu1912_Arg1913insHisAlaLeuLeu)	DNHD1	Insertion (inframe_insertion)	not provided +1 more	GBenign
Select item 3375872	NM_144666.3(DNHD1):c.6164T>C (p.Phe2055Ser)	DNHD1 (F2055S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370875	NM_144666.3(DNHD1):c.6247T>G (p.Trp2083Gly)	DNHD1 (W2083G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678807	NM_144666.3(DNHD1):c.6697C>T (p.Arg2233Cys)	DNHD1 (R2233C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3064043	NM_144666.3(DNHD1):c.6814G>A (p.Asp2272Asn)	DNHD1 (D2272N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183802	NM_144666.3(DNHD1):c.7120G>A (p.Val2374Met)	DNHD1 (V2374M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3084739	NM_144666.3(DNHD1):c.7663C>T (p.Arg2555Trp)	DNHD1 (R2555W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2636090	NM_144666.3(DNHD1):c.8119G>A (p.Glu2707Lys)	DNHD1 (E2707K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342538	NM_144666.3(DNHD1):c.8573T>A (p.Leu2858Ter)	DNHD1 (L2858*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3342766	NM_144666.3(DNHD1):c.8643G>T (p.Arg2881Ser)	DNHD1 (R2881S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369301	NM_144666.3(DNHD1):c.8690G>A (p.Arg2897His)	DNHD1 (R2897H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252457	NM_144666.3(DNHD1):c.9284C>T (p.Ser3095Leu)	DNHD1 (S3095L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375824	NM_144666.3(DNHD1):c.9686T>C (p.Leu3229Pro)	DNHD1 (L3229P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342815	NM_144666.3(DNHD1):c.9802dup (p.Thr3268fs)	DNHD1 (T3268fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3084663	NM_144666.3(DNHD1):c.10024C>T (p.Arg3342Trp)	DNHD1 (R3342W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3366011	NM_144666.3(DNHD1):c.10050GCA[3] (p.Gln3352_Val3353insGln)	DNHD1	Microsatellite	not provided	GUncertain significance
Select item 3342468	NM_144666.3(DNHD1):c.10288C>A (p.Leu3430Met)	DNHD1 (L3430M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252345	NM_144666.3(DNHD1):c.10320T>A (p.Asp3440Glu)	DNHD1 (D3440E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2341463	NM_144666.3(DNHD1):c.10761A>T (p.Lys3587Asn)	DNHD1 (K3587N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3253231	NM_144666.3(DNHD1):c.10934C>T (p.Thr3645Ile)	DNHD1 (T3645I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342539	NM_144666.3(DNHD1):c.11579T>A (p.Met3860Lys)	DNHD1 (M3860K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343480	NM_144666.3(DNHD1):c.12393del (p.Trp4132fs)	DNHD1 (W4132fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3253413	NM_144666.3(DNHD1):c.12832G>A (p.Gly4278Arg)	DNHD1 (G4278R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342712	NM_144666.3(DNHD1):c.13388_13404dup (p.Pro4469fs)	DNHD1 (P4469fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3253298	NM_144666.3(DNHD1):c.13711_13716dup (p.Ala4572_Ser4573insAspAla)	DNHD1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3342549	NM_144666.3(DNHD1):c.13911+1G>T	DNHD1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3362192	NM_144666.3(DNHD1):c.13867dup (p.Gln4623fs)	DNHD1 (Q4623fs)	Duplication (frameshift variant)	not provided	GUncertain significance

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Items: 41