KCNK17[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 39

	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 132905	NM_031460.4(KCNK17):c.993C>T (p.Asp331=)	KCNK17	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2295892	NM_031460.4(KCNK17):c.947T>C (p.Ile316Thr)	KCNK17 (I316T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113393	NM_031460.4(KCNK17):c.943A>G (p.Ile315Val)	KCNK17 (I315V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113392	NM_031460.4(KCNK17):c.923A>G (p.Tyr308Cys)	KCNK17 (Y308C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 147293	GRCh38/hg38 6p21.2(chr6:39302297-39429561)x3	KCNK16, KCNK17 +5 more	Copy number gain	See cases	GBenign
Select item 2229266	NM_031460.4(KCNK17):c.677A>T (p.Asp226Val)	KCNK17 (D226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113390	NM_031460.4(KCNK17):c.673G>A (p.Gly225Ser)	KCNK17 (G225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746199	NM_031460.4(KCNK17):c.663C>T (p.Thr221=)	KCNK17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3113389	NM_031460.4(KCNK17):c.656T>G (p.Leu219Arg)	KCNK17 (L219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745978	NM_031460.4(KCNK17):c.565del (p.Leu189fs)	KCNK17 (L189fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2243403	NM_031460.4(KCNK17):c.553C>T (p.Leu185Phe)	KCNK17 (L185F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513752	NM_031460.4(KCNK17):c.539C>T (p.Ala180Val)	KCNK17 (A180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113388	NM_031460.4(KCNK17):c.535C>A (p.Leu179Met)	KCNK17 (L179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279697	NM_031460.4(KCNK17):c.530G>A (p.Arg177Gln)	KCNK17 (R177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113387	NM_031460.4(KCNK17):c.524A>T (p.Lys175Met)	KCNK17 (K175M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113386	NM_031460.4(KCNK17):c.487G>A (p.Ala163Thr)	KCNK17 (A163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113385	NM_031460.4(KCNK17):c.470A>G (p.Gln157Arg)	KCNK17 (Q157R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 132904	NM_031460.4(KCNK17):c.435C>T (p.Leu145=)	KCNK17	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2360442	NM_031460.4(KCNK17):c.389G>A (p.Arg130His)	KCNK17 (R130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113383	NM_031460.4(KCNK17):c.301T>C (p.Trp101Arg)	KCNK17 (W101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656532	NM_031460.4(KCNK17):c.265G>A (p.Ala89Thr)	KCNK17 (A89T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 132903	NM_031460.4(KCNK17):c.262G>A (p.Gly88Arg)	KCNK17 (G88R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2208404	NM_031460.4(KCNK17):c.221T>A (p.Leu74Gln)	KCNK17 (L74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501728	NM_031460.4(KCNK17):c.190C>T (p.Gln64Ter)	KCNK17 (Q64*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3113382	NM_031460.4(KCNK17):c.183G>T (p.Glu61Asp)	KCNK17 (E61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778002	NM_031460.4(KCNK17):c.181G>A (p.Glu61Lys)	KCNK17 (E61K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3113391	NM_031460.4(KCNK17):c.91G>T (p.Ala31Ser)	KCNK17 (A31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3113384	NM_031460.4(KCNK17):c.41T>A (p.Val14Asp)	KCNK17 (V14D)	Single nucleotide variant (missense variant)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39