91875[geneid] - ClinVar

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

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	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 1341750	NC_000014.9:g.20013858_20436718dup	CCNB1IP1, KLHL33 +24 more	Duplication	14q11.2 microduplication syndrome	GUncertain significance
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 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	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 2356035	NM_138376.3(TTC5):c.1304C>T (p.Ser435Leu)	TTC5 (S435L)	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 2247518	NM_138376.3(TTC5):c.1286C>G (p.Ala429Gly)	TTC5 (A429G)	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)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GLikely 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 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 2523959	NM_138376.3(TTC5):c.1046A>G (p.Glu349Gly)	LOC126861878, TTC5 (E349G)	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 3184377	NM_138376.3(TTC5):c.977C>T (p.Thr326Met)	LOC126861878, TTC5 (T326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2644041	NM_138376.3(TTC5):c.926A>G (p.Tyr309Cys)	LOC126861878, TTC5 (Y309C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2383558	NM_138376.3(TTC5):c.890G>A (p.Arg297His)	LOC126861878, TTC5 (R297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2377503	NM_138376.3(TTC5):c.826A>G (p.Ser276Gly)	LOC126861878, TTC5 (S276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3184376	NM_138376.3(TTC5):c.810C>G (p.Phe270Leu)	LOC126861878, TTC5 (F270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
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 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 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 2644043	NM_138376.3(TTC5):c.612G>A (p.Gln204=)	TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3184375	NM_138376.3(TTC5):c.593A>G (p.Gln198Arg)	TTC5 (Q198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644044	NM_138376.3(TTC5):c.588T>G (p.Thr196=)	TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2233138	NM_138376.3(TTC5):c.538C>T (p.Arg180Cys)	TTC5 (R180C)	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 2457722	NM_138376.3(TTC5):c.448C>T (p.Arg150Trp)	TTC5 (R150W)	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 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 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 2644045	NM_138376.3(TTC5):c.192C>G (p.Val64=)	TTC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 3049613	NM_138376.3(TTC5):c.42G>C (p.Gln14His)	LOC130055244, TTC5 (Q14H)	Single nucleotide variant (missense variant)	TTC5-related condition	GLikely benign
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 2578709	NM_138376.3(TTC5):c.-6C>T	LOC130055244, TTC5	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3063333	GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3	CCNB1IP1, KLHL33 +10 more	Copy number gain	not specified	GUncertain significance
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 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 1527801	GRCh37/hg19 14q11.2(chr14:20664697-21017250)	APEX1, CCNB1IP1 +12 more	Copy number gain	not specified	GUncertain significance
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)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	CIDEB, MIR208A +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

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: 65