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

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107621	NM_014586.2(HUNK):c.11C>T (p.Ala4Val)	HUNK (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107631	NM_014586.2(HUNK):c.70G>C (p.Asp24His)	HUNK (D24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107635	NM_014586.2(HUNK):c.82C>T (p.Pro28Ser)	HUNK (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245863	NM_014586.2(HUNK):c.113C>T (p.Pro38Leu)	HUNK (P38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107626	NM_014586.2(HUNK):c.158A>C (p.Gln53Pro)	HUNK (Q53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256379	NM_014586.2(HUNK):c.224A>G (p.Lys75Arg)	HUNK (K75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107630	NM_014586.2(HUNK):c.287A>G (p.Lys96Arg)	HUNK (K96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312295	NM_014586.2(HUNK):c.407A>G (p.Tyr136Cys)	HUNK (Y136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366793	NM_014586.2(HUNK):c.469C>T (p.Arg157Trp)	HUNK (R157W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310443	NM_014586.2(HUNK):c.475G>A (p.Glu159Lys)	HUNK (E159K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531979	NM_014586.2(HUNK):c.491G>A (p.Arg164His)	HUNK (R164H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285079	NM_014586.2(HUNK):c.535C>T (p.Arg179Trp)	HUNK (R179W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300259	NM_014586.2(HUNK):c.541G>A (p.Gly181Arg)	HUNK (G181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320943	NM_014586.2(HUNK):c.551A>T (p.His184Leu)	HUNK (H184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512528	NM_014586.2(HUNK):c.656C>T (p.Pro219Leu)	HUNK (P219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334526	NM_014586.2(HUNK):c.725C>G (p.Pro242Arg)	HUNK (P242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351049	NM_014586.2(HUNK):c.779C>T (p.Thr260Met)	HUNK (T260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107634	NM_014586.2(HUNK):c.814G>T (p.Ala272Ser)	HUNK (A272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520219	NM_014586.2(HUNK):c.860C>T (p.Thr287Ile)	HUNK (T287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316570	NM_014586.2(HUNK):c.902T>C (p.Leu301Pro)	HUNK (L301P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107636	NM_014586.2(HUNK):c.952C>T (p.Arg318Cys)	HUNK (R318C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276789	NM_014586.2(HUNK):c.983T>C (p.Val328Ala)	HUNK (V328A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609811	NM_014586.2(HUNK):c.988T>C (p.Cys330Arg)	HUNK (C330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239455	NM_014586.2(HUNK):c.1007A>G (p.Asn336Ser)	HUNK (N336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107620	NM_014586.2(HUNK):c.1034C>T (p.Pro345Leu)	HUNK (P345L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271621	NM_014586.2(HUNK):c.1166T>G (p.Leu389Trp)	HUNK (L389W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107622	NM_014586.2(HUNK):c.1240C>T (p.Pro414Ser)	HUNK (P414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107623	NM_014586.2(HUNK):c.1244A>G (p.Lys415Arg)	HUNK (K415R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209802	NM_014586.2(HUNK):c.1253A>G (p.Tyr418Cys)	HUNK (Y418C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107624	NM_014586.2(HUNK):c.1277C>T (p.Thr426Ile)	HUNK (T426I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652590	NM_014586.2(HUNK):c.1280G>A (p.Arg427Gln)	HUNK (R427Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2236487	NM_014586.2(HUNK):c.1285C>G (p.Leu429Val)	HUNK (L429V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107625	NM_014586.2(HUNK):c.1300G>A (p.Val434Met)	HUNK (V434M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285082	NM_014586.2(HUNK):c.1403C>T (p.Ser468Leu)	HUNK (S468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605006	NM_014586.2(HUNK):c.1454G>A (p.Arg485Gln)	HUNK (R485Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268692	NM_014586.2(HUNK):c.1525G>T (p.Asp509Tyr)	HUNK (D509Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652591	NM_014586.2(HUNK):c.1539G>C (p.Val513=)	HUNK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301339	NM_014586.2(HUNK):c.1573C>G (p.Pro525Ala)	HUNK (P525A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285080	NM_014586.2(HUNK):c.1627G>A (p.Gly543Arg)	HUNK (G543R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557433	NM_014586.2(HUNK):c.1658C>T (p.Pro553Leu)	HUNK (P553L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107628	NM_014586.2(HUNK):c.1710C>G (p.His570Gln)	HUNK (H570Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456843	NM_014586.2(HUNK):c.1751A>T (p.Asn584Ile)	HUNK (N584I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225429	NM_014586.2(HUNK):c.1783A>G (p.Ser595Gly)	HUNK (S595G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406712	NM_014586.2(HUNK):c.1873G>A (p.Glu625Lys)	HUNK (E625K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285078	NM_014586.2(HUNK):c.1957A>G (p.Ser653Gly)	HUNK (S653G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285081	NM_014586.2(HUNK):c.1964A>C (p.Asn655Thr)	HUNK (N655T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494758	NM_014586.2(HUNK):c.1994T>C (p.Met665Thr)	HUNK (M665T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107629	NM_014586.2(HUNK):c.2005G>A (p.Gly669Arg)	HUNK (G669R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299604	NM_014586.2(HUNK):c.2093C>G (p.Ala698Gly)	HUNK (A698G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410367	NM_014586.2(HUNK):c.2128G>A (p.Val710Ile)	HUNK (V710I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 564658	GRCh37/hg19 21q22.11(chr21:33106201-33558534)x3	HUNK	Copy number gain	not provided	GLikely benign

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Items: 51