"Ambry Genetics"[submitter] AND "CLK1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267782	NM_004071.4(CLK1):c.1346G>A (p.Arg449His)	CLK1 (R449H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145863	NM_004071.4(CLK1):c.1345C>T (p.Arg449Cys)	CLK1 (R449C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3145862	NM_004071.4(CLK1):c.1247G>T (p.Arg416Leu)	CLK1 (R416L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145861	NM_004071.4(CLK1):c.1226G>A (p.Arg409His)	CLK1 (R409H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461587	NM_004071.4(CLK1):c.1102A>G (p.Ile368Val)	CLK1 (I410V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145860	NM_004071.4(CLK1):c.1036A>G (p.Arg346Gly)	CLK1 (R346G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145859	NM_004071.4(CLK1):c.1007A>C (p.His336Pro)	CLK1 (H378P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145858	NM_004071.4(CLK1):c.1000G>A (p.Glu334Lys)	CLK1 (E334K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267783	NM_004071.4(CLK1):c.956C>T (p.Pro319Leu)	CLK1 (P361L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267784	NM_004071.4(CLK1):c.886T>C (p.Phe296Leu)	CLK1 (F296L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145868	NM_004071.4(CLK1):c.715A>C (p.Ile239Leu)	CLK1 (I239L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620421	NM_004071.4(CLK1):c.646A>G (p.Thr216Ala)	CLK1 (T258A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368919	NM_004071.4(CLK1):c.622C>A (p.Gln208Lys)	CLK1 (Q208K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267780	NM_004071.4(CLK1):c.611G>A (p.Arg204His)	CLK1 (R246H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557756	NM_004071.4(CLK1):c.535A>C (p.Ile179Leu)	CLK1 (I179L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267781	NM_004071.4(CLK1):c.490G>A (p.Val164Ile)	CLK1 (V206I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366855	NM_004071.4(CLK1):c.376C>T (p.Arg126Cys)	CLK1 (R126C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145867	NM_004071.4(CLK1):c.364A>T (p.Ser122Cys)	CLK1 (S122C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533085	NM_004071.4(CLK1):c.360C>G (p.His120Gln)	CLK1 (H120Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145866	NM_004071.4(CLK1):c.357T>G (p.Ile119Met)	CLK1 (I161M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145865	NM_004071.4(CLK1):c.250T>C (p.Cys84Arg)	CLK1 (C84R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604056	NM_004071.4(CLK1):c.235G>A (p.Asp79Asn)	CLK1 (D79N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490927	NM_004071.4(CLK1):c.217A>G (p.Ile73Val)	CLK1 (I73V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465061	NM_004071.4(CLK1):c.215A>G (p.Tyr72Cys)	CLK1 (Y114C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407892	NM_004071.4(CLK1):c.205A>C (p.Ser69Arg)	CLK1 (S111R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145864	NM_004071.4(CLK1):c.184A>G (p.Ile62Val)	CLK1 (I104V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267779	NM_004071.4(CLK1):c.71G>A (p.Ser24Asn)	CLK1 (S24N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222629	NM_004071.4(CLK1):c.20C>G (p.Thr7Ser)	CLK1 (T49S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613146	NM_004071.4(CLK1):c.17G>A (p.Arg6Lys)	CLK1 (R6K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592042	NM_004071.4(CLK1):c.-1+449G>A	CLK1, LOC129935393 (E38K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455086	NM_004071.4(CLK1):c.-1+387G>A	CLK1, LOC129935393 (G17D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562299	NM_004071.4(CLK1):c.-1+371T>C	CLK1, LOC129935393 (W12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145869	NM_004071.4(CLK1):c.-1+345C>T	CLK1, LOC129935393 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 33