DNAH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 1218326	NM_015512.5(DNAH1):c.-34-299G>A	DNAH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1104643	NM_015512.5(DNAH1):c.6G>A (p.Glu2=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2046167	NM_015512.5(DNAH1):c.13A>C (p.Asn5His)	DNAH1 (N5H)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 1419364	NM_015512.5(DNAH1):c.17G>A (p.Ser6Asn)	DNAH1 (S6N)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 757012	NM_015512.5(DNAH1):c.42C>T (p.Thr14=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 1453969	NM_015512.5(DNAH1):c.46C>T (p.Gln16Ter)	DNAH1 (Q16*)	Single nucleotide variant (nonsense)	Spermatogenic failure 18 +2 more	GConflicting classifications of pathogenicity
Select item 2933616	NM_015512.5(DNAH1):c.51C>T (p.Gly17=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2926492	NM_015512.5(DNAH1):c.54A>G (p.Pro18=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2104808	NM_015512.5(DNAH1):c.67G>T (p.Ala23Ser)	DNAH1 (A23S)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2542503	NM_015512.5(DNAH1):c.68C>T (p.Ala23Val)	DNAH1 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 857646	NM_015512.5(DNAH1):c.77T>C (p.Val26Ala)	DNAH1 (V26A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 1349202	NM_015512.5(DNAH1):c.112C>A (p.Pro38Thr)	DNAH1 (P38T)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 1003880	NM_015512.5(DNAH1):c.113C>T (p.Pro38Leu)	DNAH1 (P38L)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 1668112	NM_015512.5(DNAH1):c.114G>A (p.Pro38=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 1634115	NM_015512.5(DNAH1):c.117G>A (p.Gly39=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 740044	NM_015512.5(DNAH1):c.117G>C (p.Gly39=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2941751	NM_015512.5(DNAH1):c.124C>A (p.Leu42Ile)	DNAH1 (L42I)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 1573904	NM_015512.5(DNAH1):c.129A>G (p.Pro43=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2934062	NM_015512.5(DNAH1):c.143G>A (p.Gly48Glu)	DNAH1 (G48E)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 1127969	NM_015512.5(DNAH1):c.150A>G (p.Gly50=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 1986901	NM_015512.5(DNAH1):c.151A>G (p.Asn51Asp)	DNAH1 (N51D)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2418996	NM_015512.5(DNAH1):c.171del (p.Lys58fs)	DNAH1 (K58fs)	Deletion (frameshift variant)	Spermatogenic failure 18 +1 more	GPathogenic
Select item 567385	NM_015512.5(DNAH1):c.170C>T (p.Pro57Leu)	DNAH1 (P57L)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37 +1 more	GUncertain significance
Select item 581442	NM_015512.5(DNAH1):c.197C>T (p.Pro66Leu)	DNAH1 (P66L)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2029087	NM_015512.5(DNAH1):c.202_203del (p.Pro68fs)	DNAH1 (P68fs)	Deletion (frameshift variant)	Spermatogenic failure 18 +1 more	GPathogenic
Select item 2927480	NM_015512.5(DNAH1):c.201C>T (p.Ala67=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2928140	NM_015512.5(DNAH1):c.210A>G (p.Thr70=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 3272555	NM_015512.5(DNAH1):c.232C>T (p.Arg78Trp)	DNAH1 (R78W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1428969	NM_015512.5(DNAH1):c.233G>A (p.Arg78Gln)	DNAH1 (R78Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 653593	NM_015512.5(DNAH1):c.241C>T (p.Pro81Ser)	DNAH1 (P81S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2319669	NM_015512.5(DNAH1):c.245T>A (p.Leu82Gln)	DNAH1 (L82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1325526	NM_015512.5(DNAH1):c.245del (p.Leu82fs)	DNAH1 (L82fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 37	GLikely pathogenic
Select item 544654	NM_015512.5(DNAH1):c.269C>T (p.Pro90Leu)	DNAH1 (P90L)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GConflicting classifications of pathogenicity
Select item 952206	NM_015512.5(DNAH1):c.283C>T (p.Arg95Cys)	DNAH1 (R95C)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 1490517	NM_015512.5(DNAH1):c.304C>T (p.Leu102Phe)	DNAH1 (L102F)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2923370	NM_015512.5(DNAH1):c.309C>T (p.Ser103=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 961559	NM_015512.5(DNAH1):c.333G>A (p.Gly111=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 3043788	NM_015512.5(DNAH1):c.333+10G>A	DNAH1	Single nucleotide variant (intron variant)	DNAH1-related disorder	GLikely benign
Select item 2146711	NM_015512.5(DNAH1):c.333+15C>T	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 1599073	NM_015512.5(DNAH1):c.334-12G>A	DNAH1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2237955	NM_015512.5(DNAH1):c.344G>A (p.Arg115His)	DNAH1 (R115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 794441	NM_015512.5(DNAH1):c.348C>A (p.Gly116=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2924267	NM_015512.5(DNAH1):c.352C>T (p.Arg118Ter)	DNAH1 (R118*)	Single nucleotide variant (nonsense)	Spermatogenic failure 18 +1 more	GPathogenic
Select item 544609	NM_015512.5(DNAH1):c.353G>A (p.Arg118Gln)	DNAH1 (R118Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 3272552	NM_015512.5(DNAH1):c.366C>A (p.Asn122Lys)	DNAH1 (N122K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1374048	NM_015512.5(DNAH1):c.373C>T (p.Arg125Trp)	DNAH1 (R125W)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 1430939	NM_015512.5(DNAH1):c.374G>A (p.Arg125Gln)	DNAH1 (R125Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 857064	NM_015512.5(DNAH1):c.377A>G (p.Gln126Arg)	DNAH1 (Q126R)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2046195	NM_015512.5(DNAH1):c.389A>G (p.Asp130Gly)	DNAH1 (D130G)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 2923376	NM_015512.5(DNAH1):c.391A>T (p.Lys131Ter)	DNAH1 (K131*)	Single nucleotide variant (nonsense)	Spermatogenic failure 18 +1 more	GPathogenic
Select item 2682834	NM_015512.5(DNAH1):c.397A>G (p.Thr133Ala)	DNAH1 (T133A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000757	NM_015512.5(DNAH1):c.406+6T>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2049611	NM_015512.5(DNAH1):c.406+9T>C	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2156484	NM_015512.5(DNAH1):c.406+16G>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 1528175	NM_015512.5(DNAH1):c.406+18C>G	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GBenign
Select item 1242946	NM_015512.5(DNAH1):c.406+221T>C	DNAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288195	NM_015512.5(DNAH1):c.407-184C>T	DNAH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2944215	NM_015512.5(DNAH1):c.407-19C>T	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 1609203	NM_015512.5(DNAH1):c.407-13C>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2945719	NM_015512.5(DNAH1):c.407-8A>G	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 581135	NM_015512.5(DNAH1):c.408C>A (p.Val136=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 977557	NM_015512.5(DNAH1):c.409G>A (p.Gly137Arg)	DNAH1 (G137R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083392	NM_015512.5(DNAH1):c.418G>C (p.Glu140Gln)	DNAH1 (E140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 856113	NM_015512.5(DNAH1):c.436del (p.Gln146fs)	DNAH1 (Q146fs)	Deletion (frameshift variant)	Spermatogenic failure 18 +1 more	GPathogenic
Select item 1040469	NM_015512.5(DNAH1):c.442C>T (p.Arg148Cys)	DNAH1 (R148C)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2147834	NM_015512.5(DNAH1):c.443G>A (p.Arg148His)	DNAH1 (R148H)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2930506	NM_015512.5(DNAH1):c.444C>T (p.Arg148=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 1714350	NM_015512.5(DNAH1):c.447G>A (p.Met149Ile)	DNAH1 (M149I)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37 +1 more	GUncertain significance
Select item 2157107	NM_015512.5(DNAH1):c.460A>C (p.Ile154Leu)	DNAH1 (I154L)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 544662	NM_015512.5(DNAH1):c.462C>T (p.Ile154=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2939941	NM_015512.5(DNAH1):c.469A>G (p.Thr157Ala)	DNAH1 (T157A)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 842994	NM_015512.5(DNAH1):c.475C>T (p.Arg159Trp)	DNAH1 (R159W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2170541	NM_015512.5(DNAH1):c.476G>A (p.Arg159Gln)	DNAH1 (R159Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GConflicting classifications of pathogenicity
Select item 544628	NM_015512.5(DNAH1):c.479T>C (p.Leu160Pro)	DNAH1 (L160P)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2939491	NM_015512.5(DNAH1):c.481C>T (p.Leu161Phe)	DNAH1 (L161F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1091716	NM_015512.5(DNAH1):c.483C>T (p.Leu161=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 1008943	NM_015512.5(DNAH1):c.485C>A (p.Ala162Asp)	DNAH1 (A162D)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 958350	NM_015512.5(DNAH1):c.485C>T (p.Ala162Val)	DNAH1 (A162V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2945184	NM_015512.5(DNAH1):c.489G>A (p.Gln163=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 1008612	NM_015512.5(DNAH1):c.490A>G (p.Thr164Ala)	DNAH1 (T164A)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 478454	NM_015512.5(DNAH1):c.503T>C (p.Leu168Pro)	DNAH1 (L168P)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 1932599	NM_015512.5(DNAH1):c.513C>T (p.Tyr171=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2938228	NM_015512.5(DNAH1):c.519C>T (p.Pro173=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 1988199	NM_015512.5(DNAH1):c.526C>T (p.Gln176Ter)	DNAH1 (Q176*)	Single nucleotide variant (nonsense)	Spermatogenic failure 18 +1 more	GPathogenic
Select item 2166858	NM_015512.5(DNAH1):c.529G>A (p.Val177Met)	DNAH1 (V177M)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2198600	NM_015512.5(DNAH1):c.531G>C (p.Val177=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 3083395	NM_015512.5(DNAH1):c.533C>T (p.Pro178Leu)	DNAH1 (P178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1409535	NM_015512.5(DNAH1):c.548C>T (p.Pro183Leu)	DNAH1 (P183L)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 684550	NM_015512.5(DNAH1):c.550G>T (p.Gly184Cys)	DNAH1 (G184C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1983246	NM_015512.5(DNAH1):c.551G>A (p.Gly184Asp)	DNAH1 (G184D)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 544630	NM_015512.5(DNAH1):c.562C>G (p.Arg188Gly)	DNAH1 (R188G)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2142441	NM_015512.5(DNAH1):c.563G>A (p.Arg188His)	DNAH1 (R188H)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 478464	NM_015512.5(DNAH1):c.569T>C (p.Ile190Thr)	DNAH1 (I190T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 742380	NM_015512.5(DNAH1):c.576C>T (p.Ile192=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 712752	NM_015512.5(DNAH1):c.576C>A (p.Ile192=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GBenign
Select item 575976	NM_015512.5(DNAH1):c.577G>A (p.Glu193Lys)	DNAH1 (E193K)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37 +2 more	GUncertain significance
Select item 962906	NM_015512.5(DNAH1):c.581+4C>T	DNAH1	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 37 +1 more	GUncertain significance
Select item 2161126	NM_015512.5(DNAH1):c.581+14G>T	DNAH1	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign

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