"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 179470	NM_001010892.3(RSPH4A):c.-16_-12delinsCACGCCCCTTTCATCCA	LOC129997051, RSPH4A	Indel (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 930014	NM_001010892.3(RSPH4A):c.65G>A (p.Arg22Gln)	LOC129997052, RSPH4A (R22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 666983	NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)	LOC129997052, RSPH4A (S39*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 11 +1 more	GPathogenic/Likely pathogenic
Select item 93465	NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 178799	NM_001010892.3(RSPH4A):c.446C>G (p.Thr149Ser)	RSPH4A (T149S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 165058	NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg)	RSPH4A (P195R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 165059	NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His)	RSPH4A (R244H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 229204	NM_001010892.3(RSPH4A):c.1121G>A (p.Arg374His)	RSPH4A (R374H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 178800	NM_001010892.3(RSPH4A):c.1245G>A (p.Gln415=)	RSPH4A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 178801	NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile)	RSPH4A (V497I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 227901	NM_001010892.3(RSPH4A):c.1662+15C>T	RSPH4A	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 165060	NM_001010892.3(RSPH4A):c.1667G>A (p.Arg556His)	RSPH4A (R556H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 227902	NM_001010892.3(RSPH4A):c.1734C>T (p.Asp578=)	RSPH4A	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 165061	NM_001010892.3(RSPH4A):c.1766T>C (p.Leu589Pro)	RSPH4A (L589P)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 227054	NM_001010892.3(RSPH4A):c.1798+11G>A	RSPH4A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 165062	NM_001010892.3(RSPH4A):c.1879A>C (p.Asn627His)	RSPH4A (N627H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +3 more	GBenign
Select item 227903	NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=)	RSPH4A	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 227055	NM_001010892.3(RSPH4A):c.2099C>T (p.Ala700Val)	RSPH4A (A700V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 227053	NM_001010892.3(RSPH4A):c.*8A>G	RSPH4A	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign