"Ambry Genetics"[submitter] AND "KLHL28"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115610	NM_017658.5(KLHL28):c.1681T>C (p.Tyr561His)	KLHL28 (Y575H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346309	NM_017658.5(KLHL28):c.1655C>T (p.Thr552Met)	KLHL28 (T552M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215878	NM_017658.5(KLHL28):c.1531C>T (p.Pro511Ser)	KLHL28 (P511S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115609	NM_017658.5(KLHL28):c.1519A>G (p.Thr507Ala)	KLHL28 (T507A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115608	NM_017658.5(KLHL28):c.1484G>A (p.Ser495Asn)	KLHL28 (S495N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317198	NM_017658.5(KLHL28):c.1423G>T (p.Gly475Cys)	KLHL28 (G475C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232290	NM_017658.5(KLHL28):c.1351C>T (p.Arg451Cys)	KLHL28 (R465C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115607	NM_017658.5(KLHL28):c.1286C>T (p.Ala429Val)	KLHL28 (A429V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241044	NM_017658.5(KLHL28):c.1286C>A (p.Ala429Glu)	KLHL28 (A429E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115606	NM_017658.5(KLHL28):c.1235A>G (p.Lys412Arg)	KLHL28 (K412R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259605	NM_017658.5(KLHL28):c.1135C>A (p.Leu379Ile)	KLHL28 (L379I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468236	NM_017658.5(KLHL28):c.1094C>T (p.Thr365Ile)	KLHL28 (T365I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288965	NM_017658.5(KLHL28):c.1088C>A (p.Thr363Lys)	KLHL28 (T377K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604501	NM_017658.5(KLHL28):c.1042A>C (p.Thr348Pro)	KLHL28 (T348P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455221	NM_017658.5(KLHL28):c.982G>A (p.Val328Ile)	KLHL28 (V328I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488772	NM_017658.5(KLHL28):c.955A>G (p.Ile319Val)	KLHL28 (I319V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545466	NM_017658.5(KLHL28):c.875C>G (p.Ser292Cys)	KLHL28 (S292C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530607	NM_017658.5(KLHL28):c.742C>T (p.Arg248Cys)	KLHL28 (R248C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115614	NM_017658.5(KLHL28):c.668G>A (p.Ser223Asn)	KLHL28 (S223N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115613	NM_017658.5(KLHL28):c.592G>T (p.Val198Phe)	KLHL28 (V212F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288964	NM_017658.5(KLHL28):c.569T>G (p.Leu190Trp)	KLHL28 (L204W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115612	NM_017658.5(KLHL28):c.560A>G (p.Asn187Ser)	KLHL28 (N187S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115611	NM_017658.5(KLHL28):c.533A>G (p.His178Arg)	KLHL28 (H192R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257201	NM_017658.5(KLHL28):c.449G>A (p.Arg150His)	KLHL28 (R164H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3288966	NM_017658.5(KLHL28):c.430G>A (p.Ala144Thr)	KLHL28 (A158T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494617	NM_017658.5(KLHL28):c.425G>A (p.Arg142His)	KLHL28 (R156H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310030	NM_017658.5(KLHL28):c.249A>C (p.Glu83Asp)	KLHL28 (E97D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288963	NM_017658.5(KLHL28):c.231G>C (p.Glu77Asp)	KLHL28 (E91D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250041	NM_017658.5(KLHL28):c.202C>G (p.Leu68Val)	KLHL28 (L68V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304742	NM_017658.5(KLHL28):c.167T>C (p.Val56Ala)	KLHL28 (V70A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511270	NM_017658.5(KLHL28):c.166G>A (p.Val56Ile)	KLHL28 (V56I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2611225	NM_017658.5(KLHL28):c.70G>A (p.Gly24Ser)	KLHL28 (G24S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 32