"GeneDx"[submitter] AND "DNAH14"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 2497894	NM_001367479.1(DNAH14):c.368-1G>A	DNAH14	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2576886	NM_001367479.1(DNAH14):c.409C>T (p.Arg137Ter)	DNAH14 (R137* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1174229	NM_001367479.1(DNAH14):c.499-19A>T	DNAH14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2577682	NM_001367479.1(DNAH14):c.610T>A (p.Cys204Ser)	DNAH14 (C154S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2506624	NM_001367479.1(DNAH14):c.767G>A (p.Arg256Gln)	DNAH14 (R206Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663399	NM_001367479.1(DNAH14):c.1972A>T (p.Ile658Leu)	DNAH14 (I658L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810689	NM_001367479.1(DNAH14):c.2200T>C (p.Ser734Pro)	DNAH14 (S734P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810643	NM_001367479.1(DNAH14):c.2836_2837del (p.Ser946fs)	DNAH14 (S946fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2662734	NM_001367479.1(DNAH14):c.2845G>A (p.Ala949Thr)	DNAH14 (A949T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338959	NM_001367479.1(DNAH14):c.2980G>A (p.Gly994Ser)	DNAH14 (G994S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1878754	NM_001367479.1(DNAH14):c.3573+3A>G	DNAH14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2442772	NM_001367479.1(DNAH14):c.4099C>A (p.Arg1367Ser)	DNAH14 (R1367S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574801	NM_001367479.1(DNAH14):c.4289G>C (p.Ser1430Thr)	DNAH14 (S1430T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573727	NM_001367479.1(DNAH14):c.5480T>A (p.Leu1827Ter)	DNAH14 (L1827*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2573684	NM_001367479.1(DNAH14):c.5534A>T (p.Gln1845Leu)	DNAH14 (Q1845L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810568	NM_001367479.1(DNAH14):c.5582C>T (p.Thr1861Ile)	DNAH14 (T1861I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576735	NM_001367479.1(DNAH14):c.5781del (p.Leu1928fs)	DNAH14 (L1928fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2574705	NM_001367479.1(DNAH14):c.5977+3_5977+6del	DNAH14	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2506759	NM_001367479.1(DNAH14):c.6203G>T (p.Gly2068Val)	DNAH14 (G2068V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507368	NM_001367479.1(DNAH14):c.6518+5G>A	DNAH14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2208941	NM_001367479.1(DNAH14):c.7751C>T (p.Ser2584Phe)	DNAH14 (S2584F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2662462	NM_001367479.1(DNAH14):c.7775G>A (p.Arg2592His)	DNAH14 (R2592H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878866	NM_001367479.1(DNAH14):c.9010C>T (p.Arg3004Cys)	DNAH14 (R3004C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580844	NM_001367479.1(DNAH14):c.9185_9188del (p.Lys3062fs)	DNAH14 (K3062fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1810731	NM_001367479.1(DNAH14):c.9251A>G (p.Asn3084Ser)	DNAH14 (N3084S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574291	NM_001367479.1(DNAH14):c.9325G>A (p.Ala3109Thr)	DNAH14 (A3109T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574940	NM_001367479.1(DNAH14):c.9628-1G>A	DNAH14	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2578089	NM_001367479.1(DNAH14):c.9637C>T (p.Pro3213Ser)	DNAH14 (P3213S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810723	NM_001367479.1(DNAH14):c.9763G>A (p.Asp3255Asn)	DNAH14 (D3255N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574254	NM_001367479.1(DNAH14):c.9808G>A (p.Ala3270Thr)	DNAH14 (A3270T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573943	NM_001367479.1(DNAH14):c.9839T>G (p.Leu3280Ter)	DNAH14 (L3280*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1225081	NM_001367479.1(DNAH14):c.9973G>C (p.Glu3325Gln)	DNAH14 (E3325Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 402656	NM_001367479.1(DNAH14):c.10458C>A (p.Asp3486Glu)	DNAH14 (D3486E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2573933	NM_001367479.1(DNAH14):c.10588C>T (p.Arg3530Cys)	DNAH14 (R3530C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576911	NM_001367479.1(DNAH14):c.10685T>C (p.Ile3562Thr)	DNAH14 (I3562T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402658	NM_001367479.1(DNAH14):c.10746T>A (p.Ile3582=)	DNAH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 623727	NM_001367479.1(DNAH14):c.10765del (p.Thr3589fs)	DNAH14 (T3589fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2578207	NM_001367479.1(DNAH14):c.11350_11352del (p.Trp3784del)	DNAH14 (W3784del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 441084	NM_001367479.1(DNAH14):c.11777-2A>G	DNAH14	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2579969	NM_001367479.1(DNAH14):c.12627dup (p.Arg4210fs)	DNAH14 (R4210fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2393275	NM_001367479.1(DNAH14):c.13576G>A (p.Glu4526Lys)	DNAH14 (E4526K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2576793	NM_001367479.1(DNAH14):c.13604G>A (p.Cys4535Tyr)	DNAH14 (C4535Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507330	NM_001367479.1(DNAH14):c.13703C>T (p.Pro4568Leu)	DNAH14 (P4568L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 45