KCNK16[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 144731	GRCh38/hg38 6p21.2(chr6:39127448-40287232)x3	DAAM2, DAAM2-AS1 +23 more	Copy number gain	See cases	GLikely benign
Select item 147293	GRCh38/hg38 6p21.2(chr6:39302297-39429561)x3	KCNK16, KCNK17 +5 more	Copy number gain	See cases	GBenign
Select item 1239821	NM_031460.4(KCNK17):c.61A>G (p.Ser21Gly)	KCNK16, KCNK17 (S21G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2656533	NM_001135105.2(KCNK16):c.*84C>T	KCNK16 (Q186* +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2656534	NM_032115.4(KCNK16):c.803-175C>T	KCNK16	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656535	NM_001135106.2(KCNK16):c.817G>A (p.Val273Ile)	KCNK16 (V273I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2258970	NM_001135106.2(KCNK16):c.647G>A (p.Gly216Glu)	KCNK16 (G216E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538638	NM_001135106.2(KCNK16):c.566T>C (p.Met189Thr)	KCNK16 (M124T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113381	NM_001135106.2(KCNK16):c.539C>T (p.Thr180Met)	KCNK16 (T115M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477769	NM_001135106.2(KCNK16):c.485G>A (p.Arg162Lys)	KCNK16 (R162K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352394	NM_001135106.2(KCNK16):c.476A>C (p.Asp159Ala)	KCNK16 (D94A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482094	NM_001135106.2(KCNK16):c.450T>G (p.His150Gln)	KCNK16 (H85Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592810	NM_001135106.2(KCNK16):c.436G>A (p.Gly146Arg)	KCNK16 (G146R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113379	NM_001135106.2(KCNK16):c.372C>G (p.Phe124Leu)	KCNK16 (F124L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470141	NM_001135106.2(KCNK16):c.366G>T (p.Gln122His)	KCNK16 (Q122H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623390	NM_001135106.2(KCNK16):c.326T>G (p.Ile109Arg)	KCNK16 (I109R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570476	NM_001135106.2(KCNK16):c.272G>A (p.Ser91Asn)	KCNK16 (S26N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383282	NM_001135106.2(KCNK16):c.253G>A (p.Gly85Ser)	KCNK16 (G85S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559797	NM_001135106.2(KCNK16):c.158G>A (p.Arg53His)	KCNK16 (R53H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509670	NM_001135106.2(KCNK16):c.149A>T (p.Glu50Val)	KCNK16 (E50V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547248	NM_001135106.2(KCNK16):c.65T>A (p.Val22Asp)	KCNK16 (V22D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322795	NM_001135106.2(KCNK16):c.40G>T (p.Val14Leu)	KCNK16 (V14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252327	NM_001135106.2(KCNK16):c.38G>A (p.Arg13Gln)	KCNK16 (R13Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113380	NM_001135106.2(KCNK16):c.37C>T (p.Arg13Trp)	KCNK16 (R13W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2684445	GRCh37/hg19 6p21.2(chr6:39054113-40272338)x3	DAAM2, GLP1R +6 more	Copy number gain	not provided	GUncertain significance
Select item 979552	GRCh37/hg19 6p21.2(chr6:39069267-39301460)x3	KCNK5, SAYSD1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687129	GRCh37/hg19 6p21.2(chr6:39201170-39473868)x3	KCNK16, KCNK17 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 33