"CEP164-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 421579	NM_014956.5(CEP164):c.380C>A (p.Pro127His)	CEP164 (P127H)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +2 more	GConflicting classifications of pathogenicity
Select item 793764	NM_014956.5(CEP164):c.396C>T (p.Ala132=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15 +1 more	GLikely benign
Select item 1156634	NM_014956.5(CEP164):c.552+8C>T	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15 +1 more	GLikely benign
Select item 473087	NM_014956.5(CEP164):c.748G>A (p.Gly250Ser)	CEP164 (G250S)	Single nucleotide variant (missense variant)	CEP164-related condition +1 more	GBenign/Likely benign
Select item 1167931	NM_014956.5(CEP164):c.828C>T (p.Ala276=)	CEP164	Single nucleotide variant (synonymous variant)	CEP164-related condition +1 more	GBenign/Likely benign
Select item 1151818	NM_014956.5(CEP164):c.1116T>G (p.Ala372=)	CEP164	Single nucleotide variant (synonymous variant)	CEP164-related condition +1 more	GLikely benign
Select item 864363	NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe)	CEP164 (S407F)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +2 more	GConflicting classifications of pathogenicity
Select item 1576204	NM_014956.5(CEP164):c.1233+9G>A	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15 +1 more	GLikely benign
Select item 1390660	NM_014956.5(CEP164):c.1240G>A (p.Gly414Ser)	CEP164 (G414S)	Single nucleotide variant (missense variant)	CEP164-related condition +1 more	GUncertain significance
Select item 285113	NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp)	CEP164 (R480W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1094864	NM_014956.5(CEP164):c.1569C>G (p.Ser523=)	CEP164	Single nucleotide variant (synonymous variant)	CEP164-related condition +1 more	GLikely benign
Select item 194410	NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys)	CEP164 (E547K +1 more)	Single nucleotide variant (missense variant)	CEP164-related condition +2 more	GBenign
Select item 1152252	NM_014956.5(CEP164):c.1704C>T (p.Thr568=)	CEP164	Single nucleotide variant (synonymous variant)	CEP164-related condition +1 more	GLikely benign
Select item 3030753	NM_014956.5(CEP164):c.1991A>C (p.Glu664Ala)	CEP164 (E664A +1 more)	Single nucleotide variant (missense variant)	CEP164-related condition	GUncertain significance
Select item 766845	NM_014956.5(CEP164):c.2021G>A (p.Arg674Gln)	CEP164 (R674Q +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +1 more	GLikely benign
Select item 3052253	NM_014956.5(CEP164):c.2280A>G (p.Lys760=)	CEP164	Single nucleotide variant (synonymous variant)	CEP164-related condition	GLikely benign
Select item 1541958	NM_014956.5(CEP164):c.2466T>G (p.Ser822=)	CEP164	Single nucleotide variant (synonymous variant)	CEP164-related condition +1 more	GLikely benign
Select item 2629648	NM_014956.5(CEP164):c.2608G>T (p.Glu870Ter)	CEP164 (E870* +1 more)	Single nucleotide variant (nonsense)	CEP164-related condition	GLikely pathogenic
Select item 2185694	NM_014956.5(CEP164):c.2914-6C>T	CEP164	Single nucleotide variant (intron variant)	CEP164-related condition +1 more	GLikely benign
Select item 1108223	NM_014956.5(CEP164):c.3012G>T (p.Leu1004=)	CEP164	Single nucleotide variant (synonymous variant)	CEP164-related condition +1 more	GLikely benign
Select item 772493	NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro)	CEP164 (L1011P +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +2 more	GConflicting classifications of pathogenicity
Select item 1040366	NM_014956.5(CEP164):c.3089+6G>A	CEP164	Single nucleotide variant (intron variant)	CEP164-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3046047	NM_014956.5(CEP164):c.3270C>T (p.Tyr1090=)	CEP164	Single nucleotide variant (synonymous variant)	CEP164-related condition	GLikely benign
Select item 2151787	NM_014956.5(CEP164):c.3297C>G (p.Val1099=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15 +1 more	GLikely benign
Select item 771571	NM_014956.5(CEP164):c.3332G>A (p.Arg1111His)	CEP164 (R1114H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 235637	NM_014956.5(CEP164):c.3364C>T (p.Arg1122Cys)	CEP164 (R1122C +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +2 more	GBenign/Likely benign
Select item 772989	NM_014956.5(CEP164):c.3365G>A (p.Arg1122His)	CEP164 (R1125H +1 more)	Single nucleotide variant (missense variant)	CEP164-related condition +1 more	GLikely benign
Select item 1112455	NM_014956.5(CEP164):c.3435G>A (p.Ala1145=)	CEP164	Single nucleotide variant (synonymous variant)	CEP164-related condition +1 more	GLikely benign
Select item 779006	NM_014956.5(CEP164):c.3484C>A (p.Arg1162Ser)	CEP164 (R1162S +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +1 more	GBenign/Likely benign
Select item 707383	NM_014956.5(CEP164):c.3496G>C (p.Glu1166Gln)	CEP164 (E1169Q +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +2 more	GConflicting classifications of pathogenicity
Select item 720078	NM_014956.5(CEP164):c.3610-4A>G	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15 +1 more	GLikely benign
Select item 1142610	NM_014956.5(CEP164):c.3681C>T (p.Asp1227=)	CEP164	Single nucleotide variant (synonymous variant)	CEP164-related condition +1 more	GLikely benign
Select item 767109	NM_014956.5(CEP164):c.3773C>T (p.Ser1258Phe)	CEP164 (S1258F +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +1 more	GBenign
Select item 473085	NM_014956.5(CEP164):c.3806G>A (p.Arg1269Gln)	CEP164 (R1269Q +1 more)	Single nucleotide variant (missense variant)	CEP164-related condition +1 more	GLikely benign
Select item 1017872	NM_014956.5(CEP164):c.3910C>T (p.Arg1304Trp)	CEP164 (R1299W +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +2 more	GUncertain significance
Select item 1432968	NM_014956.5(CEP164):c.4103T>C (p.Ile1368Thr)	CEP164 (I1363T +1 more)	Single nucleotide variant (missense variant)	CEP164-related condition +1 more	GUncertain significance
Select item 1583284	NM_014956.5(CEP164):c.4104C>T (p.Ile1368=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15 +1 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 37