"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "DNAH1"[gen - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675923	NM_015512.5(DNAH1):c.643T>A (p.Ser215Thr)	DNAH1 (S215T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 478507	NM_015512.5(DNAH1):c.888G>C (p.Gln296His)	DNAH1 (Q296H)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +3 more	GLikely benign
Select item 478510	NM_015512.5(DNAH1):c.933C>T (p.Asp311=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GBenign/Likely benign
Select item 1176158	NM_015512.5(DNAH1):c.1072C>T (p.Arg358Trp)	DNAH1 (R358W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712758	NM_015512.5(DNAH1):c.1093G>T (p.Ala365Ser)	DNAH1 (A365S)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GConflicting classifications of pathogenicity
Select item 757449	NM_015512.5(DNAH1):c.1182T>C (p.Tyr394=)	DNAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771257	NM_015512.5(DNAH1):c.1263G>T (p.Thr421=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +2 more	GConflicting classifications of pathogenicity
Select item 772191	NM_015512.5(DNAH1):c.1287G>A (p.Ser429=)	DNAH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 706984	NM_015512.5(DNAH1):c.1442G>A (p.Arg481Gln)	DNAH1 (R481Q)	Single nucleotide variant (missense variant)	DNAH1-related condition +3 more	GLikely benign
Select item 544647	NM_015512.5(DNAH1):c.1590C>T (p.His530=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GBenign
Select item 2653879	NM_015512.5(DNAH1):c.1790G>T (p.Arg597Leu)	DNAH1 (R597L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 762330	NM_015512.5(DNAH1):c.1881C>T (p.Ser627=)	DNAH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 478424	NM_015512.5(DNAH1):c.2204G>A (p.Ser735Asn)	DNAH1 (S735N)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GBenign/Likely benign
Select item 1298919	NM_015512.5(DNAH1):c.2526+1G>A	DNAH1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 478433	NM_015512.5(DNAH1):c.2717A>G (p.Asp906Gly)	DNAH1 (D906G)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GBenign/Likely benign
Select item 478435	NM_015512.5(DNAH1):c.2919C>T (p.His973=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +3 more	GBenign/Likely benign
Select item 478438	NM_015512.5(DNAH1):c.3111G>A (p.Ser1037=)	DNAH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2653880	NM_015512.5(DNAH1):c.3570G>A (p.Pro1190=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 1335528	NM_015512.5(DNAH1):c.4188C>G (p.Asp1396Glu)	DNAH1 (D1396E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707656	NM_015512.5(DNAH1):c.4365C>T (p.Ala1455=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related condition +3 more	GBenign/Likely benign
Select item 1620533	NM_015512.5(DNAH1):c.4375A>C (p.Arg1459=)	DNAH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 478449	NM_015512.5(DNAH1):c.4531G>A (p.Val1511Met)	DNAH1 (V1511M)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GBenign/Likely benign
Select item 2653881	NM_015512.5(DNAH1):c.4635T>C (p.Tyr1545=)	DNAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675924	NM_015512.5(DNAH1):c.5680G>A (p.Glu1894Lys)	DNAH1 (E1894K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013478	NM_015512.5(DNAH1):c.5773G>T (p.Gly1925Trp)	DNAH1 (G1925W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971260	NM_015512.5(DNAH1):c.5804C>A (p.Ala1935Asp)	DNAH1 (A1935D)	Single nucleotide variant (missense variant)	DNAH1-related condition +3 more	GUncertain significance
Select item 478468	NM_015512.5(DNAH1):c.5853G>A (p.Val1951=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GBenign/Likely benign
Select item 478470	NM_015512.5(DNAH1):c.5964G>A (p.Glu1988=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 478474	NM_015512.5(DNAH1):c.6191A>G (p.Asn2064Ser)	DNAH1 (N2064S)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GBenign
Select item 478480	NM_015512.5(DNAH1):c.6558T>G (p.Ala2186=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +3 more	GLikely benign
Select item 707166	NM_015512.5(DNAH1):c.6610A>G (p.Met2204Val)	DNAH1 (M2204V)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 478481	NM_015512.5(DNAH1):c.6676A>G (p.Ile2226Val)	DNAH1 (I2226V)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 1298920	NM_015512.5(DNAH1):c.6701C>T (p.Thr2234Met)	DNAH1 (T2234M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 544596	NM_015512.5(DNAH1):c.6941G>A (p.Arg2314His)	DNAH1 (R2314H)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 478488	NM_015512.5(DNAH1):c.7193G>A (p.Arg2398His)	DNAH1 (R2398H)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 544656	NM_015512.5(DNAH1):c.7375G>A (p.Glu2459Lys)	DNAH1 (E2459K)	Single nucleotide variant (missense variant)	DNAH1-related condition +3 more	GBenign
Select item 478491	NM_015512.5(DNAH1):c.7410C>T (p.His2470=)	DNAH1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1416117	NM_015512.5(DNAH1):c.9302A>G (p.Lys3101Arg)	DNAH1 (K3101R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 757436	NM_015512.5(DNAH1):c.9660C>T (p.Asn3220=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 569725	NM_015512.5(DNAH1):c.9814C>T (p.Arg3272Cys)	DNAH1 (R3272C)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 478379	NM_015512.5(DNAH1):c.10071A>G (p.Leu3357=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GConflicting classifications of pathogenicity
Select item 1009238	NM_015512.5(DNAH1):c.10076G>A (p.Gly3359Asp)	DNAH1 (G3359D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 478381	NM_015512.5(DNAH1):c.10216G>A (p.Val3406Ile)	DNAH1 (V3406I)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 734462	NM_015512.5(DNAH1):c.10344C>T (p.Pro3448=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 2653882	NM_015512.5(DNAH1):c.10686A>C (p.Ala3562=)	DNAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062691	NM_015512.5(DNAH1):c.10782C>T (p.Leu3594=)	DNAH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 478399	NM_015512.5(DNAH1):c.11481C>T (p.Asn3827=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +3 more	GLikely benign
Select item 1004086	NM_015512.5(DNAH1):c.12017A>C (p.Gln4006Pro)	DNAH1 (Q4006P)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +3 more	GUncertain significance
Select item 3025535	NM_015512.5(DNAH1):c.12150G>A (p.Lys4050=)	DNAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 478407	NM_015512.5(DNAH1):c.12315A>G (p.Gln4105=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GLikely benign

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Items: 50