ClinVar for MedGen (Select 1642262) - ClinVar

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

Links from MedGen

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075968	NM_138295.5(PKD1L1):c.7825C>T (p.Gln2609Ter)	PKD1L1, PKD1L1-AS1 (Q2609*)	Single nucleotide variant (nonsense)	Situs inversus	GLikely pathogenic
Select item 3011251	NM_145054.5(CFAP52):c.854+10G>T	CFAP52	Single nucleotide variant (intron variant)	Situs inversus	GBenign
Select item 3000788	NM_145054.5(CFAP52):c.537-7dup	CFAP52	Duplication (intron variant)	Situs inversus	GBenign
Select item 2873892	NM_145054.5(CFAP52):c.1025+19C>A	CFAP52	Single nucleotide variant (intron variant)	Situs inversus	GLikely benign
Select item 2797553	NM_145054.5(CFAP52):c.636+12_636+16del	CFAP52	Deletion (intron variant)	Situs inversus	GBenign
Select item 2039538	NM_145054.5(CFAP52):c.1419C>T (p.Asn473=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus	GLikely benign
Select item 2027906	NM_145054.5(CFAP52):c.1155C>T (p.Asp385=)	CFAP52	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1805633	NM_018055.5(NODAL):c.188C>A (p.Ala63Glu)	NODAL (A63E)	Single nucleotide variant (missense variant +1 more)	Situs inversus	GUncertain significance
Select item 1678874	NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs)	CDCA7L, DNAH11 (R4449fs)	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely pathogenic
Select item 1678873	NM_001277115.2(DNAH11):c.3253C>T (p.Gln1085Ter)	DNAH11, LOC126859961 (Q1085*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GLikely pathogenic
Select item 1667783	NM_145054.5(CFAP52):c.537-18T>G	CFAP52	Single nucleotide variant (intron variant)	Situs inversus	GLikely benign
Select item 1657134	NM_145054.5(CFAP52):c.1320+18T>C	CFAP52	Single nucleotide variant (intron variant)	Situs inversus	GBenign
Select item 1599339	NM_145054.5(CFAP52):c.537-7del	CFAP52	Deletion (intron variant)	Situs inversus	GBenign
Select item 1547099	NM_145054.5(CFAP52):c.1641G>A (p.Ser547=)	CFAP52	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1510687	NM_145054.5(CFAP52):c.1027G>A (p.Gly343Ser)	CFAP52 (G275S +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GUncertain significance
Select item 1453935	NM_145054.5(CFAP52):c.751T>C (p.Leu251=)	CFAP52	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1443577	NM_145054.5(CFAP52):c.536+1G>T	CFAP52	Single nucleotide variant (splice donor variant)	Situs inversus	GLikely pathogenic
Select item 1419105	NM_145054.5(CFAP52):c.244G>A (p.Gly82Arg)	CFAP52 (G82R)	Single nucleotide variant (missense variant +1 more)	Situs inversus	GUncertain significance
Select item 1416427	NM_145054.5(CFAP52):c.1652T>C (p.Met551Thr)	CFAP52 (M483T +1 more)	Single nucleotide variant (missense variant)	Situs inversus +1 more	GUncertain significance
Select item 1394379	NM_145054.5(CFAP52):c.531T>A (p.Ala177=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus	GLikely benign
Select item 1369782	NM_145054.5(CFAP52):c.1592T>C (p.Val531Ala)	CFAP52 (V463A +1 more)	Single nucleotide variant (missense variant)	Situs inversus +1 more	GUncertain significance
Select item 1285595	NM_145054.5(CFAP52):c.1304del (p.Gly435fs)	CFAP52 (G367fs +1 more)	Deletion (frameshift variant)	Situs inversus +2 more	GConflicting classifications of pathogenicity
Select item 1170031	NM_145054.5(CFAP52):c.1006G>A (p.Glu336Lys)	CFAP52 (E268K +1 more)	Single nucleotide variant (missense variant)	Situs inversus +1 more	GBenign
Select item 1169350	NM_145054.5(CFAP52):c.810C>T (p.Ala270=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus +1 more	GBenign
Select item 1167650	NM_145054.5(CFAP52):c.804T>C (p.Ser268=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus	GBenign
Select item 1119510	NM_145054.5(CFAP52):c.1257C>T (p.Gly419=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus	GLikely benign
Select item 1098993	NM_145054.5(CFAP52):c.138A>G (p.Thr46=)	CFAP52	Single nucleotide variant (synonymous variant +1 more)	Situs inversus	GLikely benign
Select item 1092347	NM_145054.5(CFAP52):c.243C>T (p.Ser81=)	CFAP52	Single nucleotide variant (synonymous variant +1 more)	Situs inversus	GLikely benign
Select item 1092021	NM_145054.5(CFAP52):c.936G>A (p.Ser312=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus	GLikely benign
Select item 1054061	NM_145054.5(CFAP52):c.1601G>C (p.Gly534Ala)	CFAP52 (G466A +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GUncertain significance
Select item 1038824	NM_145054.5(CFAP52):c.1106G>A (p.Arg369Gln)	CFAP52 (R301Q +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GUncertain significance
Select item 1001316	NM_145054.5(CFAP52):c.734C>T (p.Ala245Val)	CFAP52 (A177V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 982514	NM_033656.4(BRWD1):c.1016T>C (p.Leu339Ser)	BRWD1 (L339S)	Single nucleotide variant (missense variant)	Male infertility +3 more	GUncertain significance
Select item 982437	NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)	BRWD1 (Q1858L)	Single nucleotide variant (missense variant)	Male infertility +5 more	GPathogenic/Likely pathogenic
Select item 982436	NM_033656.4(BRWD1):c.523C>T (p.His175Tyr)	BRWD1 (H175Y)	Single nucleotide variant (missense variant)	Male infertility +5 more	GConflicting classifications of pathogenicity
Select item 982435	NM_033656.4(BRWD1):c.166G>A (p.Gly56Ser)	BRWD1, LOC130066680 (G56S)	Single nucleotide variant (missense variant)	Male infertility +4 more	GUncertain significance
Select item 969026	NM_145054.5(CFAP52):c.509G>A (p.Arg170Gln)	CFAP52 (R102Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 962973	NM_145054.5(CFAP52):c.439G>A (p.Ala147Thr)	CFAP52 (A147T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 942263	NM_145054.5(CFAP52):c.121T>C (p.Tyr41His)	CFAP52 (Y41H)	Single nucleotide variant (missense variant +1 more)	Situs inversus	GUncertain significance
Select item 861945	NM_145054.5(CFAP52):c.969A>T (p.Lys323Asn)	CFAP52 (K255N +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GUncertain significance
Select item 841952	NM_145054.5(CFAP52):c.482C>A (p.Ala161Asp)	CFAP52 (A93D +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GUncertain significance
Select item 841069	NM_145054.5(CFAP52):c.1780C>T (p.Arg594Cys)	CFAP52 (R594C +1 more)	Single nucleotide variant (missense variant)	Situs inversus +1 more	GUncertain significance
Select item 798153	NM_145054.5(CFAP52):c.873C>T (p.Gly291=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus	GLikely benign
Select item 791562	NM_145054.5(CFAP52):c.1613G>C (p.Arg538Thr)	CFAP52 (R538T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 772897	NM_145054.5(CFAP52):c.213C>T (p.Ala71=)	CFAP52	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 749939	NM_145054.5(CFAP52):c.1701T>C (p.His567=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus	GLikely benign
Select item 707582	NM_145054.5(CFAP52):c.1772C>T (p.Thr591Ile)	CFAP52 (T523I +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GLikely benign
Select item 707576	NM_145054.5(CFAP52):c.1026-3C>T	CFAP52	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 707486	NM_145054.5(CFAP52):c.1692A>C (p.Gly564=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus +1 more	GBenign
Select item 707485	NM_145054.5(CFAP52):c.1392G>T (p.Val464=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus +1 more	GBenign
Select item 707484	NM_145054.5(CFAP52):c.1065T>C (p.Asp355=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus +1 more	GBenign
Select item 707393	NM_145054.5(CFAP52):c.214A>G (p.Ile72Val)	CFAP52 (I72V)	Single nucleotide variant (missense variant +1 more)	Situs inversus	GLikely benign
Select item 707357	NM_145054.5(CFAP52):c.1369C>T (p.Leu457=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus +1 more	GBenign
Select item 707233	NM_145054.5(CFAP52):c.788G>A (p.Gly263Asp)	CFAP52 (G195D +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GLikely benign
Select item 707153	NM_145054.5(CFAP52):c.458C>T (p.Ala153Val)	CFAP52 (A153V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 645178	NM_145054.5(CFAP52):c.771G>T (p.Arg257Ser)	CFAP52 (R189S +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GUncertain significance
Select item 641856	NM_145054.5(CFAP52):c.189delinsAGCA (p.His63delinsGlnAla)	CFAP52	Indel (inframe_indel +1 more)	Situs inversus +1 more	GUncertain significance
Select item 635005	NM_018365.4(MNS1):c.407_410del (p.Glu136fs)	MNS1, TEX9 (E136fs)	Microsatellite (frameshift variant)	Situs inversus	GLikely pathogenic
Select item 582339	NM_145054.5(CFAP52):c.1430T>C (p.Val477Ala)	CFAP52 (V477A +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GUncertain significance
Select item 581962	NM_145054.5(CFAP52):c.1404G>T (p.Arg468Ser)	CFAP52 (R468S +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GUncertain significance
Select item 574037	NM_145054.5(CFAP52):c.1625G>A (p.Gly542Asp)	CFAP52 (G542D +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GUncertain significance
Select item 573466	NM_145054.5(CFAP52):c.1492A>G (p.Met498Val)	CFAP52 (M498V +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GUncertain significance
Select item 565466	NM_145054.5(CFAP52):c.1442C>G (p.Thr481Ser)	CFAP52 (T481S +1 more)	Single nucleotide variant (missense variant)	Situs inversus	GUncertain significance
Select item 544339	NM_145054.5(CFAP52):c.1185C>T (p.Asp395=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus +1 more	GBenign
Select item 544338	NM_145054.5(CFAP52):c.199G>A (p.Val67Ile)	CFAP52 (V67I)	Single nucleotide variant (missense variant +1 more)	Situs inversus	GUncertain significance
Select item 544337	NM_145054.5(CFAP52):c.1752G>A (p.Val584=)	CFAP52	Single nucleotide variant (synonymous variant)	Situs inversus	GUncertain significance
Select item 455029	NM_213607.3(CCDC103):c.568_569dup (p.Ser190fs)	CCDC103 (S190fs)	Microsatellite (frameshift variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 235796	NM_138295.5(PKD1L1):c.6473+2_6473+3del	PKD1L1	Deletion (splice donor variant)	Situs inversus +1 more	GPathogenic
Select item 235198	NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser)	PKD1L1 (C1691S)	Single nucleotide variant (missense variant)	Situs inversus	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 69