ClinVar for MedGen (Select 815971) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2575241	NM_130810.4(DNAAF4):c.390_393del (p.Ser131_Val132insTer)	DNAAF4, DNAAF4-CCPG1	Deletion (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 25	GPathogenic
Select item 2500780	NM_130810.4(DNAAF4):c.784_893del (p.Trp262fs)	DNAAF4, DNAAF4-CCPG1 (W262fs)	Deletion (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 25	GPathogenic
Select item 2440895	NM_130810.4(DNAAF4):c.59C>G (p.Ser20Cys)	DNAAF4, DNAAF4-CCPG1 (S20C)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 25	GUncertain significance
Select item 956594	NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp)	DNAAF4, DNAAF4-CCPG1 (R330W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 916125	NM_130810.4(DNAAF4):c.784-1037_894-2012del	DNAAF4, DNAAF4-CCPG1	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 869382	NM_130810.4(DNAAF4):c.589_593del (p.Tyr197fs)	DNAAF4, DNAAF4-CCPG1 (Y197fs)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 846505	NM_130810.4(DNAAF4):c.246G>C (p.Met82Ile)	DNAAF4, DNAAF4-CCPG1 (M82I)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyslexia, susceptibility to, 1 +2 more	GUncertain significance
Select item 804473	NM_130810.4(DNAAF4):c.384_390del (p.Lys127_Tyr128insTer)	DNAAF4-CCPG1, DNAAF4	Deletion (non-coding transcript variant +1 more)	Dyslexia, susceptibility to, 1 +1 more	GLikely pathogenic
Select item 578519	NM_130810.4(DNAAF4):c.4C>T (p.Pro2Ser)	DNAAF4, DNAAF4-CCPG1 (P2S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 577768	NM_130810.4(DNAAF4):c.583del (p.Lys194_Ile195insTer)	DNAAF4, DNAAF4-CCPG1	Deletion (non-coding transcript variant +1 more)	Dyslexia, susceptibility to, 1 +2 more	GPathogenic
Select item 505757	NM_130810.4(DNAAF4):c.523del (p.Ile175fs)	DNAAF4, DNAAF4-CCPG1 (I175fs)	Deletion (non-coding transcript variant +1 more)	Primary ciliary dyskinesia +3 more	GPathogenic/Likely pathogenic
Select item 496919	NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs)	DNAAF4, DNAAF4-CCPG1 (I175fs)	Duplication (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 25 +2 more	GPathogenic/Likely pathogenic
Select item 410958	NM_130810.4(DNAAF4):c.1241A>C (p.Gln414Pro)	DNAAF4, DNAAF4-CCPG1 (Q414P)	Single nucleotide variant (3 prime UTR variant +2 more)	Dyslexia, susceptibility to, 1 +3 more	GUncertain significance
Select item 262315	NM_130810.4(DNAAF4):c.572A>G (p.Glu191Gly)	DNAAF4, DNAAF4-CCPG1 (E191G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 68449	NM_130810.4(DNAAF4):c.325G>T (p.Glu109Ter)	DNAAF4, DNAAF4-CCPG1 (E109*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 68448	NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter)	DNAAF4, DNAAF4-CCPG1 (R270*)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 25 +2 more	GPathogenic/Likely pathogenic
Select item 2136	NM_130810.4(DNAAF4):c.1249G>T (p.Glu417Ter)	DNAAF4, DNAAF4-CCPG1 (E417*)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign