CLEC14A[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 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 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 57775	GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1	CLEC14A, FBXO33 +62 more	Copy number loss	See cases	GPathogenic
Select item 149764	GRCh38/hg38 14q21.1(chr14:37533702-38648187)x1	CLEC14A, FOXA1 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 154966	GRCh38/hg38 14q21.1(chr14:37583142-38369347)x3	CLEC14A, FOXA1 +8 more	Copy number gain	See cases	GLikely benign
Select item 146693	GRCh38/hg38 14q21.1(chr14:38088975-38648187)x3	CLEC14A, LOC112268136 +3 more	Copy number gain	See cases	GLikely benign
Select item 2588368	NM_175060.3(CLEC14A):c.1438C>A (p.Leu480Met)	CLEC14A (L480M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315365	NM_175060.3(CLEC14A):c.1424C>T (p.Ala475Val)	CLEC14A (A475V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312273	NM_175060.3(CLEC14A):c.1402G>A (p.Asp468Asn)	CLEC14A (D468N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145564	NM_175060.3(CLEC14A):c.1396G>A (p.Val466Ile)	CLEC14A (V466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145563	NM_175060.3(CLEC14A):c.1192G>A (p.Val398Met)	CLEC14A (V398M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790141	NM_175060.3(CLEC14A):c.1185C>T (p.Ser395=)	CLEC14A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3267656	NM_175060.3(CLEC14A):c.1154C>T (p.Ser385Phe)	CLEC14A (S385F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267649	NM_175060.3(CLEC14A):c.1135A>G (p.Lys379Glu)	CLEC14A (K379E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145562	NM_175060.3(CLEC14A):c.1114C>G (p.Pro372Ala)	CLEC14A (P372A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544273	NM_175060.3(CLEC14A):c.1061C>T (p.Thr354Met)	CLEC14A (T354M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479907	NM_175060.3(CLEC14A):c.1040C>T (p.Pro347Leu)	CLEC14A (P347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558586	NM_175060.3(CLEC14A):c.1037T>G (p.Ile346Ser)	CLEC14A (I346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369893	NM_175060.3(CLEC14A):c.1025C>T (p.Ser342Phe)	CLEC14A (S342F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145560	NM_175060.3(CLEC14A):c.1022C>T (p.Thr341Ile)	CLEC14A (T341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267650	NM_175060.3(CLEC14A):c.970G>A (p.Asp324Asn)	CLEC14A (D324N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267647	NM_175060.3(CLEC14A):c.922G>C (p.Ala308Pro)	CLEC14A (A308P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681199	NM_175060.3(CLEC14A):c.914G>A (p.Arg305His)	CLEC14A (R305H)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2556686	NM_175060.3(CLEC14A):c.824C>A (p.Thr275Lys)	CLEC14A (T275K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790683	NM_175060.3(CLEC14A):c.823A>G (p.Thr275Ala)	CLEC14A (T275A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2616691	NM_175060.3(CLEC14A):c.722A>T (p.Asp241Val)	CLEC14A (D241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296837	NM_175060.3(CLEC14A):c.698C>T (p.Ala233Val)	CLEC14A (A233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145569	NM_175060.3(CLEC14A):c.694G>C (p.Gly232Arg)	CLEC14A (G232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306886	NM_175060.3(CLEC14A):c.683C>G (p.Ala228Gly)	CLEC14A (A228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145568	NM_175060.3(CLEC14A):c.652G>A (p.Gly218Arg)	CLEC14A (G218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293700	NM_175060.3(CLEC14A):c.607C>G (p.Leu203Val)	CLEC14A (L203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221962	NM_175060.3(CLEC14A):c.592C>G (p.Leu198Val)	CLEC14A (L198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145567	NM_175060.3(CLEC14A):c.557C>T (p.Ala186Val)	CLEC14A (A186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621562	NM_175060.3(CLEC14A):c.538C>T (p.Pro180Ser)	CLEC14A (P180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566388	NM_175060.3(CLEC14A):c.524T>C (p.Phe175Ser)	CLEC14A (F175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486221	NM_175060.3(CLEC14A):c.511T>C (p.Cys171Arg)	CLEC14A (C171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267654	NM_175060.3(CLEC14A):c.485G>A (p.Cys162Tyr)	CLEC14A (C162Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327002	NM_175060.3(CLEC14A):c.441G>C (p.Gln147His)	CLEC14A (Q147H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267652	NM_175060.3(CLEC14A):c.349T>C (p.Ser117Pro)	CLEC14A (S117P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270055	NM_175060.3(CLEC14A):c.325C>A (p.Pro109Thr)	CLEC14A (P109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145566	NM_175060.3(CLEC14A):c.272T>C (p.Leu91Pro)	CLEC14A (L91P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145565	NM_175060.3(CLEC14A):c.197C>A (p.Ala66Glu)	CLEC14A (A66E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267651	NM_175060.3(CLEC14A):c.187A>G (p.Thr63Ala)	CLEC14A (T63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342780	NM_175060.3(CLEC14A):c.178G>C (p.Ala60Pro)	CLEC14A (A60P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267655	NM_175060.3(CLEC14A):c.143A>G (p.Gln48Arg)	CLEC14A (Q48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267653	NM_175060.3(CLEC14A):c.106G>T (p.Ala36Ser)	CLEC14A (A36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315697	NM_175060.3(CLEC14A):c.95C>T (p.Ser32Leu)	CLEC14A (S32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377915	NM_175060.3(CLEC14A):c.6G>C (p.Arg2Ser)	CLEC14A (R2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
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 1808082	GRCh37/hg19 14q13.3-21.1(chr14:37486532-39796638)x1	CLEC14A, FOXA1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	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 1527809	GRCh37/hg19 14q13.3-21.1(chr14:36862276-41597549)	CLEC14A, FBXO33 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527808	GRCh37/hg19 14q13.2-21.1(chr14:35850213-40138562)	BRMS1L, CLEC14A +20 more	Copy number loss	not specified	GPathogenic
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	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 815643	GRCh37/hg19 14q21.1(chr14:38538434-39127208)x3	CLEC14A, SSTR1	Copy number gain	not provided	GUncertain significance
Select item 815639	GRCh37/hg19 14q13.3-21.1(chr14:36830396-42541277)x1	CLEC14A, FBXO33 +15 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 564135	GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1	BRMS1L, C14orf28 +29 more	Copy number loss	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

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Items: 73