Related gene-specific medical variations for Gene (Select 345895) - ClinVar

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

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236432	NM_001010892.3(RSPH4A):c.103T>C (p.Ser35Pro)	LOC129997052, RSPH4A (S35P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 2451393	NM_001010892.3(RSPH4A):c.92C>T (p.Ser31Phe)	LOC129997052, RSPH4A (S31F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2451385	NM_001010892.3(RSPH4A):c.91T>C (p.Ser31Pro)	LOC129997052, RSPH4A (S31P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2435486	NM_001010892.3(RSPH4A):c.1829G>A (p.Arg610Gln)	RSPH4A (G565S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 2347502	NM_001010892.3(RSPH4A):c.157C>T (p.Arg53Cys)	LOC129997052, RSPH4A (R53C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2113289	NM_001010892.3(RSPH4A):c.72G>A (p.Trp24Ter)	LOC129997052, RSPH4A (W24*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2011218	NM_001010892.3(RSPH4A):c.104C>A (p.Ser35Tyr)	LOC129997052, RSPH4A (S35Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2010566	NM_001010892.3(RSPH4A):c.144G>T (p.Gly48=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1741911	NM_001010892.3(RSPH4A):c.117G>T (p.Ser39=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1707228	NM_001010892.3(RSPH4A):c.-13T>A	LOC129997051, RSPH4A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1706787	NM_001010892.3(RSPH4A):c.-17_-16insCACGCCCCT	LOC129997051, RSPH4A	Insertion (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1706779	NM_001010892.3(RSPH4A):c.-12_-11insCCA	LOC129997051, RSPH4A	Insertion (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1447488	NM_001010892.3(RSPH4A):c.110C>G (p.Pro37Arg)	LOC129997052, RSPH4A (P37R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1421348	NM_001010892.3(RSPH4A):c.152C>G (p.Thr51Ser)	LOC129997052, RSPH4A (T51S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1330295	NM_001010892.3(RSPH4A):c.1631G>A (p.Trp544Ter)	RSPH4A (W544*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 11	GPathogenic
Select item 1025255	NM_001010892.3(RSPH4A):c.84A>G (p.Thr28=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 957147	NM_001010892.3(RSPH4A):c.134C>T (p.Ala45Val)	LOC129997052, RSPH4A (A45V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 907279	NM_001010892.3(RSPH4A):c.-50T>C	LOC129997051, RSPH4A	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia 11	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 647100	NM_001010892.3(RSPH4A):c.145C>A (p.Pro49Thr)	LOC129997052, RSPH4A (P49T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 415506	NM_001010892.3(RSPH4A):c.99A>G (p.Gln33=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 355117	NM_001010892.3(RSPH4A):c.-88A>G	LOC129997051, RSPH4A	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 285786	NM_001010892.3(RSPH4A):c.111_125del (p.Glu38_Pro42del)	LOC129997052, RSPH4A	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 257049	NM_001010892.3(RSPH4A):c.1662+50T>C	RSPH4A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 216487	NM_001010892.3(RSPH4A):c.91_92delinsCT (p.Ser31Leu)	LOC129997052, RSPH4A (S31L)	Indel (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 208994	NM_001010892.3(RSPH4A):c.166dup (p.Arg56fs)	LOC129997052, RSPH4A (R56fs)	Duplication (frameshift variant)	Kartagener syndrome	Gnot provided
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 93465	NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 29