ClinVar for MedGen (Select 1841109) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067995	NM_018897.3(DNAH7):c.10971C>A (p.Ser3657Arg)	DNAH7 (S3657R)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 50	GUncertain significance
Select item 3065342	NM_018897.3(DNAH7):c.5411del (p.Leu1804fs)	DNAH7 (L1804fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 50	GLikely pathogenic
Select item 3065318	NM_018897.3(DNAH7):c.1754+1G>A	DNAH7	Single nucleotide variant (splice donor variant)	Ciliary dyskinesia, primary, 50	GLikely pathogenic
Select item 3065248	NM_018897.3(DNAH7):c.6347A>G (p.Asn2116Ser)	DNAH7 (N2116S)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 50	GUncertain significance
Select item 3065247	NM_018897.3(DNAH7):c.6311C>G (p.Pro2104Arg)	DNAH7 (P2104R)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 50	GUncertain significance
Select item 3064757	NM_018897.3(DNAH7):c.9888+1G>A	DNAH7	Single nucleotide variant (splice donor variant)	Ciliary dyskinesia, primary, 50	GLikely pathogenic
Select item 2500173	NM_018897.3(DNAH7):c.2478dup (p.Val827fs)	DNAH7 (V827fs)	Duplication (frameshift variant)	Ciliary dyskinesia, primary, 50	GPathogenic
Select item 2500172	NM_018897.3(DNAH7):c.10601A>G (p.Gln3534Arg)	DNAH7 (Q3534R)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 50	GPathogenic
Select item 2500171	NM_018897.3(DNAH7):c.9611G>A (p.Arg3204His)	DNAH7 (R3204H)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 50	GPathogenic
Select item 2500170	NM_018897.3(DNAH7):c.6492G>A (p.Met2164Ile)	DNAH7 (M2164I)	Single nucleotide variant (missense variant)	DNAH7-related condition	GLikely benign
Select item 2500169	NM_018897.3(DNAH7):c.5587G>A (p.Asp1863Asn)	DNAH7 (D1863N)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 50	GPathogenic
Select item 2500168	NM_018897.3(DNAH7):c.10390G>A (p.Gly3464Ser)	DNAH7 (G3464S)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 50	GPathogenic