KCNK13[gene] - ClinVar

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Items: 50

	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 3113369	NM_022054.4(KCNK13):c.4G>A (p.Ala2Thr)	KCNK13 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287675	NM_022054.4(KCNK13):c.14G>T (p.Gly5Val)	KCNK13 (G5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644446	NM_022054.4(KCNK13):c.15T>G (p.Gly5=)	KCNK13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301121	NM_022054.4(KCNK13):c.20G>A (p.Ser7Asn)	KCNK13 (S7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269022	NM_022054.4(KCNK13):c.159G>C (p.Trp53Cys)	KCNK13 (W53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534204	NM_022054.4(KCNK13):c.187G>C (p.Gly63Arg)	KCNK13 (G63R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513772	NM_022054.4(KCNK13):c.214C>T (p.Arg72Cys)	KCNK13 (R72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598225	NM_022054.4(KCNK13):c.258C>G (p.Ile86Met)	KCNK13 (I86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386589	NM_022054.4(KCNK13):c.291C>A (p.Phe97Leu)	KCNK13 (F97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113366	NM_022054.4(KCNK13):c.305A>C (p.Tyr102Ser)	KCNK13 (Y102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467244	NM_022054.4(KCNK13):c.361G>A (p.Val121Ile)	KCNK13 (V121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113367	NM_022054.4(KCNK13):c.392G>T (p.Gly131Val)	KCNK13 (G131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644447	NM_022054.4(KCNK13):c.394C>T (p.Leu132Phe)	KCNK13 (L132F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3113368	NM_022054.4(KCNK13):c.466A>G (p.Ile156Val)	KCNK13 (I156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276838	NM_022054.4(KCNK13):c.629G>A (p.Cys210Tyr)	KCNK13 (C210Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113370	NM_022054.4(KCNK13):c.749A>G (p.His250Arg)	KCNK13 (H250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402455	NM_022054.4(KCNK13):c.796C>T (p.Leu266Phe)	KCNK13 (L266F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287676	NM_022054.4(KCNK13):c.797T>A (p.Leu266His)	KCNK13 (L266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467539	NM_022054.4(KCNK13):c.899C>T (p.Pro300Leu)	KCNK13 (P300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519675	NM_022054.4(KCNK13):c.929G>A (p.Arg310His)	KCNK13 (R310H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113364	NM_022054.4(KCNK13):c.1000G>C (p.Glu334Gln)	KCNK13 (E334Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599827	NM_022054.4(KCNK13):c.1010C>T (p.Thr337Met)	KCNK13 (T337M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511464	NM_022054.4(KCNK13):c.1022G>A (p.Arg341Gln)	KCNK13 (R341Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545174	NM_022054.4(KCNK13):c.1060G>T (p.Ala354Ser)	KCNK13 (A354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591978	NM_022054.4(KCNK13):c.1066A>G (p.Asn356Asp)	KCNK13 (N356D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287674	NM_022054.4(KCNK13):c.1070A>G (p.Lys357Arg)	KCNK13 (K357R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113365	NM_022054.4(KCNK13):c.1144G>T (p.Ala382Ser)	KCNK13 (A382S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2285829	NM_022054.4(KCNK13):c.1147C>T (p.Arg383Trp)	KCNK13 (R383W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529266	NM_022054.4(KCNK13):c.1207G>A (p.Glu403Lys)	KCNK13 (E403K)	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 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	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 980617	GRCh37/hg19 14q32.11(chr14:90648169-91222138)x3	NRDE2, PSMC1 +3 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 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 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: 50