16898[HGNC] - 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	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +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	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 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2549212	NM_005864.4(EFS):c.1678G>T (p.Ala560Ser)	EFS (A560S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537171	NM_005864.4(EFS):c.1674C>G (p.Ser558Arg)	EFS (S389R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087605	NM_005864.4(EFS):c.1651C>A (p.Gln551Lys)	EFS (Q428K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381534	NM_005864.4(EFS):c.1582G>A (p.Gly528Ser)	EFS (G528S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382755	NM_005864.4(EFS):c.1483G>C (p.Ala495Pro)	EFS (A326P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350575	NM_005864.4(EFS):c.1460T>C (p.Val487Ala)	EFS (V318A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313884	NM_005864.4(EFS):c.1459G>T (p.Val487Phe)	EFS (V487F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462268	NM_005864.4(EFS):c.1448G>A (p.Arg483His)	EFS (R314H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457505	NM_005864.4(EFS):c.1411G>A (p.Val471Met)	EFS (V302M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551262	NM_005864.4(EFS):c.1405C>T (p.Leu469Phe)	EFS (L469F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087604	NM_005864.4(EFS):c.1400C>A (p.Pro467Gln)	EFS (P298Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384716	NM_005864.4(EFS):c.1391A>C (p.Asn464Thr)	EFS (N295T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487726	NM_005864.4(EFS):c.1334G>A (p.Ser445Asn)	EFS (S322N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227525	NM_005864.4(EFS):c.1291G>A (p.Gly431Arg)	EFS (G262R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531527	NM_005864.4(EFS):c.1283T>C (p.Val428Ala)	EFS (V428A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509251	NM_005864.4(EFS):c.1189C>G (p.Pro397Ala)	EFS (P228A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346096	NM_005864.4(EFS):c.1109A>G (p.Asn370Ser)	EFS (N201S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464590	NM_005864.4(EFS):c.1046G>T (p.Gly349Val)	EFS (G256V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087602	NM_005864.4(EFS):c.1027C>T (p.Arg343Cys)	EFS (R343C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281113	NM_005864.4(EFS):c.1004G>T (p.Arg335Leu)	EFS (R335L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087601	NM_005864.4(EFS):c.1003C>T (p.Arg335Trp)	EFS (R166W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598532	NM_005864.4(EFS):c.911G>T (p.Arg304Leu)	EFS (R135L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479808	NM_005864.4(EFS):c.911G>A (p.Arg304His)	EFS (R304H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467216	NM_005864.4(EFS):c.910C>T (p.Arg304Cys)	EFS (R135C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087609	NM_005864.4(EFS):c.889C>T (p.Pro297Ser)	EFS (P204S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266534	NM_005864.4(EFS):c.883C>T (p.Arg295Trp)	EFS (R295W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294785	NM_005864.4(EFS):c.875A>T (p.His292Leu)	EFS (H123L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473701	NM_005864.4(EFS):c.859A>C (p.Ser287Arg)	EFS (S194R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459779	NM_005864.4(EFS):c.784G>T (p.Ala262Ser)	EFS (A169S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545005	NM_005864.4(EFS):c.742A>T (p.Thr248Ser)	EFS (T155S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391777	NM_005864.4(EFS):c.692A>G (p.Asn231Ser)	EFS (N231S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376914	NM_005864.4(EFS):c.641C>A (p.Pro214His)	EFS (P121H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309346	NM_005864.4(EFS):c.635C>T (p.Pro212Leu)	EFS (P119L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371973	NM_005864.4(EFS):c.629G>A (p.Arg210Gln)	EFS (R117Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542245	NM_005864.4(EFS):c.604C>T (p.Pro202Ser)	EFS (P109S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384451	NM_005864.4(EFS):c.557C>T (p.Ala186Val)	EFS (A93V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614755	NM_005864.4(EFS):c.547G>A (p.Glu183Lys)	EFS (E183K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326287	NM_005864.4(EFS):c.538C>T (p.Pro180Ser)	EFS (P180S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491607	NM_005864.4(EFS):c.499G>A (p.Ala167Thr)	EFS (A167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601464	NM_005864.4(EFS):c.429T>G (p.Asp143Glu)	EFS (D143E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774827	NM_005864.4(EFS):c.423C>T (p.Pro141=)	EFS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2610306	NM_005864.4(EFS):c.391C>T (p.Pro131Ser)	EFS (P131S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087606	NM_005864.4(EFS):c.343C>G (p.Pro115Ala)	EFS (P22A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237997	NM_005864.4(EFS):c.286G>A (p.Glu96Lys)	EFS (E96K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528247	NM_005864.4(EFS):c.181A>G (p.Asn61Asp)	EFS (N61D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290809	NM_005864.4(EFS):c.157G>A (p.Gly53Ser)	EFS (G53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472089	NM_005864.4(EFS):c.133G>A (p.Gly45Ser)	EFS (G45S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087603	NM_005864.4(EFS):c.119C>T (p.Ala40Val)	EFS (A40V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398416	NM_005864.4(EFS):c.97C>T (p.Arg33Trp)	EFS (R33W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087607	NM_005864.4(EFS):c.59C>G (p.Ser20Cys)	EFS (S20C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209216	NM_005864.4(EFS):c.31C>T (p.Arg11Trp)	EFS (R11W)	Single nucleotide variant (missense variant +1 more)	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 2424248	NC_000014.8:g.(?_23586696)_(23902941_?)del	BCL2L2, BCL2L2-PABPN1 +14 more	Deletion	Specific granule deficiency	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
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 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 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
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	ERG28, OR11G2 +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

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Items: 73