KCNK7[gene] and "single gene"[properties] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113431	NM_033347.2(KCNK7):c.853G>A (p.Gly285Arg)	KCNK7 (G285R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113430	NM_033347.2(KCNK7):c.829G>T (p.Ala277Ser)	KCNK7 (A277S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2365711	NM_033347.2(KCNK7):c.794T>A (p.Met265Lys)	KCNK7 (M265K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2266687	NM_033347.2(KCNK7):c.764C>T (p.Thr255Ile)	KCNK7 (T255I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2216812	NM_033347.2(KCNK7):c.709G>T (p.Ala237Ser)	KCNK7 (A237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608423	NM_033347.2(KCNK7):c.664C>T (p.Arg222Cys)	KCNK7 (R222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113429	NM_033347.2(KCNK7):c.661G>A (p.Gly221Ser)	KCNK7 (G221S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113428	NM_033347.2(KCNK7):c.602G>A (p.Gly201Glu)	KCNK7 (G201E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3287701	NM_033347.2(KCNK7):c.548T>C (p.Val183Ala)	KCNK7 (V183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113427	NM_033347.2(KCNK7):c.500C>T (p.Ala167Val)	KCNK7 (A167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218147	NM_033347.2(KCNK7):c.455G>A (p.Arg152His)	KCNK7 (R152H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113426	NM_033347.2(KCNK7):c.442C>T (p.Leu148Phe)	KCNK7 (L148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113425	NM_033347.2(KCNK7):c.413C>T (p.Ala138Val)	KCNK7 (A138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113424	NM_033347.2(KCNK7):c.370G>T (p.Val124Phe)	KCNK7 (V124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535740	NM_033347.2(KCNK7):c.359C>T (p.Ala120Val)	KCNK7 (A120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768454	NM_033347.2(KCNK7):c.356A>G (p.Lys119Arg)	KCNK7 (K119R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3113423	NM_033347.2(KCNK7):c.352G>A (p.Gly118Arg)	KCNK7 (G118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296999	NM_033347.2(KCNK7):c.349G>A (p.Gly117Ser)	KCNK7 (G117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768455	NM_033347.2(KCNK7):c.327C>T (p.Gly109=)	KCNK7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3113422	NM_033347.2(KCNK7):c.295G>A (p.Ala99Thr)	KCNK7 (A99T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3287702	NM_033347.2(KCNK7):c.169T>C (p.Cys57Arg)	KCNK7 (C57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595944	NM_033347.2(KCNK7):c.143C>A (p.Ala48Glu)	KCNK7 (A48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113421	NM_033347.2(KCNK7):c.16C>A (p.Pro6Thr)	KCNK7 (P6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23