"Invitae"[submitter] AND "DNAH2"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	ALOX12B, ALOX15B +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC112533665, LOC116276454 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 769428	NM_020877.5(DNAH2):c.1272G>A (p.Leu424=)	DNAH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 720824	NM_020877.5(DNAH2):c.1546T>C (p.Tyr516His)	DNAH2 (Y516H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 716226	NM_020877.5(DNAH2):c.1632T>C (p.Tyr544=)	DNAH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 782417	NM_020877.5(DNAH2):c.2443C>T (p.Pro815Ser)	DNAH2 (P815S)	Single nucleotide variant (missense variant)	DNAH2-related condition +1 more	GLikely benign
Select item 402717	NM_020877.5(DNAH2):c.2648C>T (p.Ser883Leu)	DNAH2 (S883L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 777120	NM_020877.5(DNAH2):c.2882T>C (p.Met961Thr)	DNAH2 (M961T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 782605	NM_020877.5(DNAH2):c.3172G>A (p.Ala1058Thr)	DNAH2 (A1058T)	Single nucleotide variant (missense variant)	DNAH2-related condition +1 more	GBenign
Select item 733028	NM_020877.5(DNAH2):c.3337-6C>G	DNAH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 777121	NM_020877.5(DNAH2):c.3607C>A (p.Leu1203Ile)	DNAH2 (L1203I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 787991	NM_020877.5(DNAH2):c.3717C>A (p.Asp1239Glu)	DNAH2 (D1239E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 777481	NM_020877.5(DNAH2):c.3795C>T (p.His1265=)	DNAH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 715312	NM_020877.5(DNAH2):c.4813C>T (p.Pro1605Ser)	DNAH2 (P1605S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 780397	NM_020877.5(DNAH2):c.4969A>G (p.Ile1657Val)	DNAH2 (I1657V)	Single nucleotide variant (missense variant)	DNAH2-related condition +1 more	GBenign
Select item 777122	NM_020877.5(DNAH2):c.5247+3G>A	DNAH2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 780166	NM_020877.5(DNAH2):c.5485T>G (p.Cys1829Gly)	DNAH2 (C1829G)	Single nucleotide variant (missense variant)	DNAH2-related condition +1 more	GBenign
Select item 777123	NM_020877.5(DNAH2):c.6628G>A (p.Asp2210Asn)	DNAH2 (D2210N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 777124	NM_020877.5(DNAH2):c.6843C>T (p.Tyr2281=)	DNAH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 784666	NM_020877.5(DNAH2):c.11478+3C>G	DNAH2	Single nucleotide variant (intron variant)	DNAH2-related condition +1 more	GBenign/Likely benign
Select item 774346	NM_020877.5(DNAH2):c.11899C>T (p.Pro3967Ser)	DNAH2 (P3967S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 774929	NM_020877.5(DNAH2):c.12036C>T (p.Ser4012=)	DNAH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1455106	NC_000017.10:g.(?_7578518)_(7658855_?)del	DNAH2, EFNB3 +2 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 1376044	NC_000017.10:g.(?_7571752)_(8135555_?)del	TMEM88, TP53 +26 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance

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Items: 28