ClinVar for Gene (Select 91875) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329907	NM_138376.3(TTC5):c.73T>G (p.Ser25Ala)	TTC5 (S25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329906	NM_138376.3(TTC5):c.1235C>T (p.Thr412Met)	TTC5 (T412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329905	NM_138376.3(TTC5):c.920G>A (p.Gly307Glu)	LOC126861878, TTC5 (G307E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239194	NM_138376.3(TTC5):c.1027T>G (p.Phe343Val)	LOC126861878, TTC5 (F343V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3184377	NM_138376.3(TTC5):c.977C>T (p.Thr326Met)	LOC126861878, TTC5 (T326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184376	NM_138376.3(TTC5):c.810C>G (p.Phe270Leu)	LOC126861878, TTC5 (F270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184375	NM_138376.3(TTC5):c.593A>G (p.Gln198Arg)	TTC5 (Q198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184373	NM_138376.3(TTC5):c.1294A>G (p.Thr432Ala)	TTC5 (T432A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184372	NM_138376.3(TTC5):c.1104G>T (p.Met368Ile)	TTC5 (M368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184371	NM_138376.3(TTC5):c.1094A>C (p.Tyr365Ser)	TTC5 (Y365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065695	NM_138376.3(TTC5):c.343A>C (p.Lys115Gln)	TTC5 (K115Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GUncertain significance
Select item 3063333	GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3	CCNB1IP1, KLHL33 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3062315	NM_138376.3(TTC5):c.79C>T (p.Arg27Ter)	TTC5 (R27*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GLikely pathogenic
Select item 3049613	NM_138376.3(TTC5):c.42G>C (p.Gln14His)	LOC130055244, TTC5 (Q14H)	Single nucleotide variant (missense variant)	TTC5-related disorder	GLikely benign
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644045	NM_138376.3(TTC5):c.192C>G (p.Val64=)	TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644044	NM_138376.3(TTC5):c.588T>G (p.Thr196=)	TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644043	NM_138376.3(TTC5):c.612G>A (p.Gln204=)	TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644042	NM_138376.3(TTC5):c.811C>T (p.Leu271=)	LOC126861878, TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644041	NM_138376.3(TTC5):c.926A>G (p.Tyr309Cys)	LOC126861878, TTC5 (Y309C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2644040	NM_138376.3(TTC5):c.954C>T (p.Thr318=)	LOC126861878, TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593951	NM_138376.3(TTC5):c.829C>T (p.Leu277Phe)	LOC126861878, TTC5 (L277F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578709	NM_138376.3(TTC5):c.-6C>T	LOC130055244, TTC5	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2523959	NM_138376.3(TTC5):c.1046A>G (p.Glu349Gly)	LOC126861878, TTC5 (E349G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502828	NM_138376.3(TTC5):c.418C>T (p.Gln140Ter)	TTC5 (Q140*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GUncertain significance
Select item 2457722	NM_138376.3(TTC5):c.448C>T (p.Arg150Trp)	TTC5 (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443352	NM_138376.3(TTC5):c.1225C>T (p.Arg409Ter)	TTC5 (R409*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2394656	NM_138376.3(TTC5):c.539G>A (p.Arg180His)	TTC5 (R180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393312	NM_138376.3(TTC5):c.430A>G (p.Met144Val)	TTC5 (M144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383558	NM_138376.3(TTC5):c.890G>A (p.Arg297His)	LOC126861878, TTC5 (R297H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2377503	NM_138376.3(TTC5):c.826A>G (p.Ser276Gly)	LOC126861878, TTC5 (S276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356035	NM_138376.3(TTC5):c.1304C>T (p.Ser435Leu)	TTC5 (S435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297643	NM_138376.3(TTC5):c.5T>C (p.Met2Thr)	LOC130055244, TTC5 (M2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273833	NM_138376.3(TTC5):c.1000G>A (p.Gly334Ser)	LOC126861878, TTC5 (G334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247518	NM_138376.3(TTC5):c.1286C>G (p.Ala429Gly)	TTC5 (A429G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246408	NM_138376.3(TTC5):c.470A>G (p.His157Arg)	TTC5 (H157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233138	NM_138376.3(TTC5):c.538C>T (p.Arg180Cys)	TTC5 (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1878583	NM_138376.3(TTC5):c.139_140inv (p.Gln47Trp)	TTC5 (Q47W)	Inversion (missense variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1700463	NM_138376.3(TTC5):c.695C>T (p.Thr232Met)	TTC5 (T232M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1527801	GRCh37/hg19 14q11.2(chr14:20664697-21017250)	APEX1, CCNB1IP1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1341750	NC_000014.9:g.20013858_20436718dup	CCNB1IP1, KLHL33 +24 more	Duplication	14q11.2 microduplication syndrome	GUncertain significance
Select item 1048624	NM_138376.3(TTC5):c.692C>T (p.Ala231Val)	TTC5 (A231V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic
Select item 1048623	NM_138376.3(TTC5):c.787C>T (p.Arg263Ter)	LOC126861878, TTC5 (R263*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic/Likely pathogenic
Select item 1048622	NM_138376.3(TTC5):c.1183C>T (p.Arg395Ter)	TTC5 (R395*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GUncertain significance
Select item 1048621	NM_138376.3(TTC5):c.629A>G (p.Tyr210Cys)	TTC5 (Y210C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic
Select item 1048620	NM_138376.3(TTC5):c.51+1G>A	TTC5, LOC130055244	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic
Select item 1048619	NM_138376.3(TTC5):c.599del (p.Pro200fs)	TTC5 (P200fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 687535	GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3	CCNB1IP1, KLHL33 +10 more	Copy number gain	not provided	GUncertain significance
Select item 685568	GRCh37/hg19 14q11.2(chr14:20511672-21174548)x3	ANG, APEX1 +25 more	Copy number gain	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 147619	GRCh38/hg38 14q11.2(chr14:20289246-20418076)x3	CCNB1IP1, LOC126861878 +14 more	Copy number gain	See cases	GBenign
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 69