Related gene-specific medical variations for Gene (Select 256949) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287331	NM_198471.3(KANK3):c.2389T>C (p.Ser797Pro)	KANK3, RPS28 (S797P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287329	NM_198471.3(KANK3):c.410C>G (p.Thr137Ser)	KANK3, LOC130063418 (T137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287325	NM_198471.3(KANK3):c.484C>T (p.Arg162Cys)	KANK3, LOC130063418 (R162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112629	NM_198471.3(KANK3):c.488G>T (p.Gly163Val)	KANK3, LOC130063418 (G163V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112627	NM_198471.3(KANK3):c.428T>G (p.Leu143Arg)	KANK3, LOC130063418 (L143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112621	NM_198471.3(KANK3):c.155T>C (p.Ile52Thr)	KANK3, LOC130063420 (I52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649196	NM_198471.3(KANK3):c.537C>T (p.Gly179=)	KANK3, LOC130063418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549140	NM_198471.3(KANK3):c.772G>C (p.Glu258Gln)	KANK3, LOC130063417 (E258Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546306	NM_198471.3(KANK3):c.448G>C (p.Ala150Pro)	KANK3, LOC130063418 (A150P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542156	NM_198471.3(KANK3):c.785G>A (p.Arg262His)	KANK3, LOC130063417 (R262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514006	NM_198471.3(KANK3):c.412A>G (p.Ser138Gly)	KANK3, LOC130063418 (S138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510559	NM_198471.3(KANK3):c.408G>C (p.Glu136Asp)	KANK3, LOC130063418 (E136D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494543	NM_198471.3(KANK3):c.446G>T (p.Arg149Leu)	KANK3, LOC130063418 (R149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480298	NM_198471.3(KANK3):c.371C>T (p.Pro124Leu)	KANK3, LOC130063418 (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473800	NM_198471.3(KANK3):c.104C>G (p.Ser35Trp)	KANK3, LOC130063420 (S35W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469232	NM_198471.3(KANK3):c.472C>T (p.Pro158Ser)	KANK3, LOC130063418 (P158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459244	NM_198471.3(KANK3):c.803G>A (p.Arg268Gln)	KANK3, LOC130063417 (R268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457844	NM_198471.3(KANK3):c.724G>C (p.Asp242His)	KANK3, LOC130063417 (D242H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380797	NM_198471.3(KANK3):c.314T>C (p.Ile105Thr)	KANK3, LOC130063419 (I105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344469	NM_198471.3(KANK3):c.725A>T (p.Asp242Val)	KANK3, LOC130063417 (D242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343353	NM_198471.3(KANK3):c.2386G>A (p.Glu796Lys)	KANK3, RPS28 (E796K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334983	NM_198471.3(KANK3):c.535G>C (p.Gly179Arg)	KANK3, LOC130063418 (G179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222908	NM_198471.3(KANK3):c.458C>T (p.Pro153Leu)	KANK3, LOC130063418 (P153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207747	NM_198471.3(KANK3):c.774G>C (p.Glu258Asp)	KANK3, LOC130063417 (E258D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 24