6273[HGNC] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 149167	GRCh38/hg38 14q31.3(chr14:86155419-88321735)x3	GALC, GPR65 +26 more	Copy number gain	See cases	GLikely benign
Select item 144379	GRCh38/hg38 14q31.3(chr14:87746480-88540154)x3	GALC, GPR65 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2489140	NM_138317.3(KCNK10):c.1591C>T (p.Arg531Trp)	KCNK10 (R531W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742543	NM_138317.3(KCNK10):c.1530G>A (p.Thr510=)	KCNK10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2376416	NM_138317.3(KCNK10):c.1498A>G (p.Asn500Asp)	KCNK10 (N495D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322629	NM_138317.3(KCNK10):c.1472A>C (p.Lys491Thr)	KCNK10 (K491T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315764	NM_138317.3(KCNK10):c.1462G>A (p.Glu488Lys)	KCNK10 (E488K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274570	NM_138317.3(KCNK10):c.1445G>A (p.Arg482Gln)	KCNK10 (R482Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113357	NM_138317.3(KCNK10):c.1444C>T (p.Arg482Trp)	KCNK10 (R477W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286832	NM_138317.3(KCNK10):c.1439C>T (p.Thr480Ile)	KCNK10 (T475I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287671	NM_138317.3(KCNK10):c.1357G>A (p.Gly453Arg)	KCNK10 (G448R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742544	NM_138317.3(KCNK10):c.1350C>T (p.Asn450=)	KCNK10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2369108	NM_138317.3(KCNK10):c.1315C>T (p.His439Tyr)	KCNK10 (H439Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113356	NM_138317.3(KCNK10):c.1234C>T (p.Arg412Cys)	KCNK10 (R407C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370428	NM_138317.3(KCNK10):c.1231G>A (p.Gly411Ser)	KCNK10 (G406S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464925	NM_138317.3(KCNK10):c.1147C>T (p.Arg383Trp)	KCNK10 (R378W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532704	NM_138317.3(KCNK10):c.1133G>A (p.Arg378His)	KCNK10 (R378H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113355	NM_138317.3(KCNK10):c.1132C>T (p.Arg378Cys)	KCNK10 (R378C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113354	NM_138317.3(KCNK10):c.1117C>T (p.Arg373Trp)	KCNK10 (R368W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113353	NM_138317.3(KCNK10):c.1107T>A (p.Asp369Glu)	KCNK10 (D364E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297135	NM_138317.3(KCNK10):c.1049C>T (p.Ala350Val)	KCNK10 (A350V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681346	NM_138317.3(KCNK10):c.999G>T (p.Lys333Asn)	KCNK10 (K328N +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2345054	NM_138317.3(KCNK10):c.897G>C (p.Glu299Asp)	KCNK10 (E299D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216857	NM_138317.3(KCNK10):c.877G>T (p.Ala293Ser)	KCNK10 (A293S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113359	NM_138317.3(KCNK10):c.651A>T (p.Lys217Asn)	KCNK10 (K217N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623652	NM_138317.3(KCNK10):c.556A>G (p.Lys186Glu)	KCNK10 (K181E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539595	NM_138317.3(KCNK10):c.377C>T (p.Pro126Leu)	KCNK10 (P121L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287669	NM_138317.3(KCNK10):c.356G>A (p.Arg119Gln)	KCNK10 (R114Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490385	NM_138317.3(KCNK10):c.355C>T (p.Arg119Trp)	KCNK10 (R119W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464883	NM_138317.3(KCNK10):c.344C>T (p.Ala115Val)	KCNK10 (A115V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287667	NM_138317.3(KCNK10):c.340A>C (p.Lys114Gln)	KCNK10 (K114Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113358	NM_138317.3(KCNK10):c.293T>C (p.Leu98Ser)	KCNK10 (L98S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491553	NM_138317.3(KCNK10):c.286C>T (p.Arg96Trp)	KCNK10 (R91W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357815	NM_138317.3(KCNK10):c.232G>C (p.Val78Leu)	KCNK10 (V73L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517330	NM_138317.3(KCNK10):c.140G>A (p.Arg47His)	KCNK10 (R47H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511015	NM_138317.3(KCNK10):c.139C>T (p.Arg47Cys)	KCNK10 (R42C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602812	NM_138317.3(KCNK10):c.119C>T (p.Pro40Leu)	KCNK10 (P35L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268471	NM_138317.3(KCNK10):c.92G>A (p.Ser31Asn)	KCNK10 (S26N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287670	NM_138317.3(KCNK10):c.74C>G (p.Pro25Arg)	KCNK10 (P20R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511574	NM_138317.3(KCNK10):c.64G>A (p.Ala22Thr)	KCNK10 (A22T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287668	NM_138317.3(KCNK10):c.58G>A (p.Val20Ile)	KCNK10 (V20I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2426470	NC_000014.8:g.(?_88391407)_(89343754_?)dup	EML5, GALC +6 more	Duplication	Leber congenital amaurosis 3	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807575	GRCh37/hg19 14q31.3-32.11(chr14:85366999-90760040)x3	FOXN3, GALC +13 more	Copy number gain	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 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1527830	GRCh37/hg19 14q31.2-31.3(chr14:84325247-89218538)	EML5, FLRT2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 815673	GRCh37/hg19 14q31.3(chr14:88452876-88662600)x3	GALC, GPR65 +1 more	Copy number gain	not provided	GUncertain significance
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 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 442989	GRCh37/hg19 14q31.3(chr14:88123942-88970366)x1	GALC, GPR65 +3 more	Copy number loss	See cases	GUncertain significance
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 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: 64