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

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145928	NM_052964.4(CLNK):c.1279C>T (p.Pro427Ser)	CLNK (P427S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343420	NM_052964.4(CLNK):c.1264A>C (p.Thr422Pro)	CLNK (T422P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364728	NM_052964.4(CLNK):c.1262T>A (p.Leu421His)	CLNK (L421H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145927	NM_052964.4(CLNK):c.1220G>A (p.Gly407Glu)	CLNK (G407E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654671	NM_052964.4(CLNK):c.1191T>C (p.Ile397=)	CLNK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3145926	NM_052964.4(CLNK):c.1165A>T (p.Ile389Phe)	CLNK (I389F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378849	NM_052964.4(CLNK):c.1138G>A (p.Glu380Lys)	CLNK (E380K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556791	NM_052964.4(CLNK):c.1137T>A (p.Asp379Glu)	CLNK (D379E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227358	NM_052964.4(CLNK):c.1097G>A (p.Arg366Lys)	CLNK (R366K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349137	NM_052964.4(CLNK):c.1085G>A (p.Arg362His)	CLNK (R362H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052806	NM_052964.4(CLNK):c.1084C>T (p.Arg362Cys)	CLNK (R362C)	Single nucleotide variant (missense variant)	CLNK-related disorder	GLikely benign
Select item 402544	NM_052964.4(CLNK):c.1083A>C (p.Ile361=)	CLNK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2236356	NM_052964.4(CLNK):c.1054T>C (p.Tyr352His)	CLNK (Y352H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267821	NM_052964.4(CLNK):c.909T>G (p.Asp303Glu)	CLNK (D303E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267822	NM_052964.4(CLNK):c.896C>A (p.Ser299Tyr)	CLNK (S299Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491106	NM_052964.4(CLNK):c.893G>C (p.Arg298Thr)	CLNK (R298T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145935	NM_052964.4(CLNK):c.812G>T (p.Cys271Phe)	CLNK (C271F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145934	NM_052964.4(CLNK):c.794C>A (p.Pro265His)	CLNK (P265H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145933	NM_052964.4(CLNK):c.770G>C (p.Arg257Thr)	CLNK (R257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145932	NM_052964.4(CLNK):c.743C>T (p.Thr248Met)	CLNK (T248M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534123	NM_052964.4(CLNK):c.728G>T (p.Ser243Ile)	CLNK (S243I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043844	NM_052964.4(CLNK):c.724A>G (p.Ile242Val)	CLNK (I242V)	Single nucleotide variant (missense variant)	CLNK-related disorder	GLikely benign
Select item 2295933	NM_052964.4(CLNK):c.722C>A (p.Ala241Asp)	CLNK (A241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267816	NM_052964.4(CLNK):c.644A>C (p.Glu215Ala)	CLNK (E215A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145931	NM_052964.4(CLNK):c.551G>A (p.Arg184Lys)	CLNK (R184K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654672	NM_052964.4(CLNK):c.540G>A (p.Pro180=)	CLNK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3267823	NM_052964.4(CLNK):c.539C>T (p.Pro180Leu)	CLNK (P180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321311	NM_052964.4(CLNK):c.524C>A (p.Pro175His)	CLNK (P175H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559325	NM_052964.4(CLNK):c.494C>G (p.Pro165Arg)	CLNK (P165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311975	NM_052964.4(CLNK):c.457G>A (p.Val153Ile)	CLNK (V153I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594471	NM_052964.4(CLNK):c.368C>T (p.Pro123Leu)	CLNK (P123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290542	NM_052964.4(CLNK):c.359T>C (p.Ile120Thr)	CLNK (I120T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267818	NM_052964.4(CLNK):c.347C>G (p.Thr116Ser)	CLNK (T116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591814	NM_052964.4(CLNK):c.266G>A (p.Arg89Gln)	CLNK (R89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601630	NM_052964.4(CLNK):c.213C>A (p.Asp71Glu)	CLNK (D71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267820	NM_052964.4(CLNK):c.146A>G (p.Asp49Gly)	CLNK (D49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145929	NM_052964.4(CLNK):c.131A>G (p.Asn44Ser)	CLNK (N44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223565	NM_052964.4(CLNK):c.95G>A (p.Arg32His)	CLNK (R32H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 402545	NM_052964.4(CLNK):c.92C>T (p.Pro31Leu)	CLNK (P31L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3267817	NM_052964.4(CLNK):c.91C>T (p.Pro31Ser)	CLNK (P31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145930	NM_052964.4(CLNK):c.25A>T (p.Thr9Ser)	CLNK (T9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 41