15362[HGNC] - ClinVar

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

Search results

Items: 62

	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 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	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 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	LOC125048449, LOC125048450 +3277 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	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150080	GRCh38/hg38 14q11.2(chr14:21038933-21428431)x3	ARHGEF40, CHD8 +22 more	Copy number gain	See cases	GUncertain significance
Select item 58305	GRCh38/hg38 14q11.2(chr14:21058251-21384204)x3	ARHGEF40, HNRNPC +17 more	Copy number gain	See cases	GUncertain significance
Select item 2243876	NM_001004731.3(OR5AU1):c.886G>T (p.Asp296Tyr)	OR5AU1 (D296Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549735	NM_001004731.3(OR5AU1):c.862C>T (p.Leu288Phe)	OR5AU1 (L288F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349078	NM_001004731.3(OR5AU1):c.814C>T (p.Arg272Cys)	OR5AU1 (R272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206133	NM_001004731.3(OR5AU1):c.781C>T (p.Arg261Cys)	OR5AU1 (R261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542003	NM_001004731.3(OR5AU1):c.716C>G (p.Ser239Cys)	OR5AU1 (S239C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303149	NM_001004731.3(OR5AU1):c.702G>T (p.Arg234Ser)	OR5AU1 (R234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228080	NM_001004731.3(OR5AU1):c.611G>C (p.Gly204Ala)	OR5AU1 (G204A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303151	NM_001004731.3(OR5AU1):c.590T>A (p.Ile197Asn)	OR5AU1 (I197N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374694	NM_001004731.3(OR5AU1):c.505T>C (p.Cys169Arg)	OR5AU1 (C169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595079	NM_001004731.3(OR5AU1):c.290G>T (p.Cys97Phe)	OR5AU1 (C97F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238227	NM_001004731.3(OR5AU1):c.290G>A (p.Cys97Tyr)	OR5AU1 (C97Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609028	NM_001004731.3(OR5AU1):c.241A>G (p.Thr81Ala)	OR5AU1 (T81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372426	NM_001004731.3(OR5AU1):c.227C>T (p.Thr76Met)	OR5AU1 (T76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303148	NM_001004731.3(OR5AU1):c.170C>T (p.Thr57Ile)	OR5AU1 (T57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542960	NM_001004731.3(OR5AU1):c.170C>G (p.Thr57Arg)	OR5AU1 (T57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457486	NM_001004731.3(OR5AU1):c.157G>T (p.Ala53Ser)	OR5AU1 (A53S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3206132	NM_001004731.3(OR5AU1):c.146T>G (p.Ile49Ser)	OR5AU1 (I49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526681	NM_001004731.3(OR5AU1):c.133A>G (p.Met45Val)	OR5AU1 (M45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303150	NM_001004731.3(OR5AU1):c.102G>A (p.Met34Ile)	OR5AU1 (M34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399174	NM_001004731.3(OR5AU1):c.79C>T (p.Leu27Phe)	OR5AU1 (L27F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463581	NM_001004731.3(OR5AU1):c.62C>A (p.Pro21His)	OR5AU1 (P21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240169	NM_001004731.3(OR5AU1):c.17T>C (p.Leu6Pro)	OR5AU1 (L6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230230	NM_001004731.3(OR5AU1):c.-126A>G	OR5AU1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	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 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	METTL3, ANG +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 1809420	GRCh37/hg19 14q11.2(chr14:21496133-21962265)x3	ARHGEF40, CHD8 +12 more	Copy number gain	not provided	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 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527802	GRCh37/hg19 14q11.2(chr14:21451544-21962317)	ARHGEF40, CHD8 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
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 815631	GRCh37/hg19 14q11.2(chr14:21589998-21999445)x1	CHD8, SALL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 815630	GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4	TOX4, ARHGEF40 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
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 689180	GRCh37/hg19 14q11.2(chr14:21490055-21962265)x3	ARHGEF40, CHD8 +13 more	Copy number gain	not provided	GUncertain significance
Select item 684983	GRCh37/hg19 14q11.2(chr14:21610687-21897616)x3	CHD8, HNRNPC +3 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 564121	GRCh37/hg19 14q11.2(chr14:21417035-21962317)x3	SUPT16H, TMEM253 +16 more	Copy number gain	not provided	GUncertain significance
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 253921	GRCh37/hg19 14q11.2(chr14:21520503-21878421)x3	CHD8, ARHGEF40 +7 more	Copy number gain	See cases	GUncertain significance
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: 62