Related gene-specific medical variations for Gene (Select 755) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359658	NM_004928.3(CFAP410):c.621del (p.Ser208fs)	CFAP410 (S166fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3356518	NM_004928.3(CFAP410):c.9G>T (p.Leu3=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	CFAP410-related disorder	GLikely benign
Select item 3355294	NM_004928.3(CFAP410):c.39G>A (p.Lys13=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	CFAP410-related disorder	GLikely benign
Select item 3248186	NC_000021.8:g.(?_45750081)_(45757570_?)del	CFAP410	Deletion	not provided	GPathogenic
Select item 3143452	NM_004928.3(CFAP410):c.56G>C (p.Ser19Thr)	CFAP410, LOC130066823 (S19T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064754	NM_004928.3(CFAP410):c.77+2T>C	CFAP410, LOC130066823	Single nucleotide variant (splice donor variant)	Axial spondylometaphyseal dysplasia	GLikely pathogenic
Select item 2847179	NM_004928.3(CFAP410):c.22G>T (p.Val8Phe)	CFAP410, LOC130066823 (V8F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846393	NM_004928.3(CFAP410):c.2T>G (p.Met1Arg)	CFAP410, LOC130066823 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2806455	NM_004928.3(CFAP410):c.77+7_77+15del	CFAP410, LOC130066823	Deletion (intron variant)	not provided	GLikely benign
Select item 2687790	NM_004928.3(CFAP410):c.382GAG[2] (p.Glu130del)	CFAP410 (E130del +1 more)	Microsatellite (inframe deletion)	Retinal dystrophy with or without macular staphyloma	GLikely pathogenic
Select item 2687789	NM_004928.3(CFAP410):c.291C>G (p.Asn97Lys)	CFAP410 (N56K +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy with or without macular staphyloma	GUncertain significance
Select item 2687788	NM_004928.3(CFAP410):c.19_21del (p.Met7del)	CFAP410, LOC130066823 (M7del)	Deletion (inframe deletion)	Retinal dystrophy with or without macular staphyloma	GUncertain significance
Select item 2687787	NM_004928.3(CFAP410):c.373+91A>G	CFAP410	Single nucleotide variant (intron variant)	Retinal dystrophy with or without macular staphyloma	GLikely pathogenic
Select item 2419415	NM_004928.3(CFAP410):c.31C>T (p.Arg11Trp)	CFAP410, LOC130066823 (R11W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185005	NM_004928.3(CFAP410):c.58G>T (p.Val20Leu)	CFAP410, LOC130066823 (V20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125649	NM_004928.3(CFAP410):c.62G>A (p.Arg21His)	CFAP410, LOC130066823 (R21H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113011	NM_004928.3(CFAP410):c.77+11G>A	CFAP410, LOC130066823	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985778	NM_004928.3(CFAP410):c.26T>C (p.Leu9Pro)	CFAP410, LOC130066823 (L9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985624	NM_004928.3(CFAP410):c.46G>A (p.Glu16Lys)	CFAP410, LOC130066823 (E16K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980264	NM_004928.3(CFAP410):c.73T>C (p.Cys25Arg)	CFAP410, LOC130066823 (C25R)	Single nucleotide variant (missense variant)	Retinal dystrophy with or without macular staphyloma +1 more	GConflicting classifications of pathogenicity
Select item 1968351	NM_004928.3(CFAP410):c.21G>T (p.Met7Ile)	CFAP410, LOC130066823 (M7I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964756	NM_004928.3(CFAP410):c.36C>G (p.Ala12=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956358	NM_004928.3(CFAP410):c.66G>C (p.Lys22Asn)	CFAP410, LOC130066823 (K22N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953653	NM_004928.3(CFAP410):c.50T>C (p.Leu17Pro)	CFAP410, LOC130066823 (L17P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947502	NM_004928.3(CFAP410):c.6G>T (p.Lys2Asn)	CFAP410, LOC130066823 (K2N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942863	NM_004928.3(CFAP410):c.14G>A (p.Arg5Gln)	CFAP410, LOC130066823 (R5Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937569	NM_004928.3(CFAP410):c.33G>C (p.Arg11=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926040	NM_004928.3(CFAP410):c.77+12C>T	CFAP410, LOC130066823	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671401	NM_004928.3(CFAP410):c.45G>A (p.Ser15=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626323	NM_004928.3(CFAP410):c.48G>A (p.Glu16=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591300	NM_004928.3(CFAP410):c.51G>A (p.Leu17=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1561764	NM_004928.3(CFAP410):c.6G>A (p.Lys2=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550077	NM_004928.3(CFAP410):c.9G>A (p.Leu3=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496265	NM_004928.3(CFAP410):c.13C>T (p.Arg5Trp)	CFAP410, LOC130066823 (R5W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475397	NM_004928.3(CFAP410):c.38A>G (p.Lys13Arg)	CFAP410, LOC130066823 (K13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461781	NM_004928.3(CFAP410):c.77+6G>A	CFAP410, LOC130066823	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1424850	NM_004928.3(CFAP410):c.20T>C (p.Met7Thr)	CFAP410, LOC130066823 (M7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413087	NM_004928.3(CFAP410):c.46G>T (p.Glu16Ter)	CFAP410, LOC130066823 (E16*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1371821	NM_004928.3(CFAP410):c.21G>A (p.Met7Ile)	CFAP410, LOC130066823 (M7I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310977	NM_004928.3(CFAP410):c.76T>C (p.Trp26Arg)	CFAP410, LOC130066823 (W26R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294987	NM_004928.3(CFAP410):c.77+35G>T	CFAP410, LOC130066823	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267681	NM_004928.3(CFAP410):c.-120C>G	CFAP410, LOC130066823	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1226353	NM_004928.3(CFAP410):c.77+92A>C	CFAP410, LOC130066823	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1160406	NM_004928.3(CFAP410):c.9G>C (p.Leu3=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1116073	NM_004928.3(CFAP410):c.77+16G>T	CFAP410, LOC130066823	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1080032	NM_004928.3(CFAP410):c.42C>T (p.Ala14=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1078593	NM_004928.3(CFAP410):c.30C>T (p.Thr10=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1047400	NM_004928.3(CFAP410):c.10A>G (p.Thr4Ala)	CFAP410, LOC130066823 (T4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041258	NM_004928.3(CFAP410):c.3G>A (p.Met1Ile)	CFAP410, LOC130066823 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 986998	NM_004928.3(CFAP410):c.59_62del (p.Val20fs)	CFAP410, LOC130066823 (V20fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 809296	NM_004928.3(CFAP410):c.642+98T>C	CFAP410 (V246A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 778625	NM_004928.3(CFAP410):c.18G>A (p.Lys6=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760753	NM_004928.3(CFAP410):c.77+3G>T	CFAP410, LOC130066823	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 756785	NM_004928.3(CFAP410):c.1A>G (p.Met1Val)	CFAP410, LOC130066823 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 493325	NM_004928.3(CFAP410):c.58G>A (p.Val20Met)	LOC130066823, CFAP410 (V20M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 438159	NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs)	CFAP410, LOC130066823 (A12fs)	Insertion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic
Select item 259586	NM_004928.3(CFAP410):c.33G>A (p.Arg11=)	CFAP410, LOC130066823	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Links from Gene

Items: 57