ClinVar for Gene (Select 23729) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3161878	NM_013276.4(SHPK):c.952G>C (p.Ala318Pro)	SHPK (A318P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161877	NM_013276.4(SHPK):c.937A>T (p.Thr313Ser)	SHPK (T313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161876	NM_013276.4(SHPK):c.77C>G (p.Pro26Arg)	SHPK (P26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161875	NM_013276.4(SHPK):c.752C>T (p.Thr251Met)	SHPK (T251M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161874	NM_013276.4(SHPK):c.302C>T (p.Thr101Ile)	SHPK (T101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161873	NM_013276.4(SHPK):c.1254G>T (p.Gln418His)	SHPK (Q418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161872	NM_013276.4(SHPK):c.1087G>T (p.Asp363Tyr)	SHPK (D363Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3069077	NC_000017.10:g.(?_3511533)_(3539545_?)del	SHPK, TRPV1	Deletion	not specified	GUncertain significance
Select item 3063514	GRCh37/hg19 17p13.2(chr17:3300933-3536977)x1	ASPA, OR1E1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3063484	GRCh37/hg19 17p13.2(chr17:3489513-3557205)x1	CTNS, SHPK +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063482	GRCh37/hg19 17p13.2(chr17:3489513-3557441)x1	CTNS, SHPK +1 more	Copy number loss	not specified	GPathogenic
Select item 3063479	GRCh37/hg19 17p13.2(chr17:3505568-3557452)x1	CTNS, SHPK +1 more	Copy number loss	not specified	GPathogenic
Select item 3063478	GRCh37/hg19 17p13.2(chr17:3505567-3557452)x1	CTNS, SHPK +1 more	Copy number loss	not specified	GPathogenic
Select item 3063476	GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1	CTNS, SHPK +1 more	Copy number loss	not specified	GPathogenic
Select item 3018556	NM_013276.4(SHPK):c.420dup (p.Pro141fs)	SHPK, LOC126862464 (P141fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3014954	NM_013276.4(SHPK):c.1222C>A (p.Gln408Lys)	SHPK (Q408K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007201	NM_013276.4(SHPK):c.310+13C>G	SHPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988557	NM_013276.4(SHPK):c.971G>A (p.Gly324Asp)	SHPK (G324D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974248	NM_013276.4(SHPK):c.502T>C (p.Phe168Leu)	SHPK (F168L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972788	NM_013276.4(SHPK):c.270G>A (p.Ser90=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968706	NM_013276.4(SHPK):c.168+19del	SHPK	Deletion (intron variant)	not provided	GBenign
Select item 2965039	NM_013276.4(SHPK):c.640G>A (p.Val214Ile)	SHPK (V214I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964388	NM_013276.4(SHPK):c.519C>T (p.Asp173=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964291	NM_013276.4(SHPK):c.351G>A (p.Glu117=)	LOC126862464, SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958353	NM_013276.4(SHPK):c.1182C>T (p.Ser394=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916310	NM_013276.4(SHPK):c.1032G>A (p.Glu344=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916278	NM_013276.4(SHPK):c.585C>T (p.Ser195=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906387	NM_013276.4(SHPK):c.994C>T (p.His332Tyr)	SHPK (H332Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905417	NM_013276.4(SHPK):c.436C>T (p.His146Tyr)	LOC126862464, SHPK (H146Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902398	NM_013276.4(SHPK):c.131C>A (p.Ala44Glu)	SHPK (A44E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892031	NM_013276.4(SHPK):c.331G>A (p.Gly111Arg)	LOC126862464, SHPK (G111R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859599	NM_013276.4(SHPK):c.45A>G (p.Thr15=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841910	NM_013276.4(SHPK):c.1107C>T (p.Thr369=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828251	NM_013276.4(SHPK):c.372G>C (p.Leu124=)	LOC126862464, SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818304	NM_013276.4(SHPK):c.923C>G (p.Pro308Arg)	SHPK (P308R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812817	NM_013276.4(SHPK):c.531C>A (p.Thr177=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807774	NM_013276.4(SHPK):c.1024+16C>T	SHPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801819	NM_013276.4(SHPK):c.168+14C>T	SHPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801464	NM_013276.4(SHPK):c.1183C>G (p.Leu395Val)	SHPK (L395V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767467	NM_013276.4(SHPK):c.440T>C (p.Leu147Pro)	LOC126862464, SHPK (L147P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2760184	NM_013276.4(SHPK):c.14C>T (p.Pro5Leu)	SHPK (P5L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756028	NM_013276.4(SHPK):c.453G>A (p.Thr151=)	LOC126862464, SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724875	NM_013276.4(SHPK):c.14C>G (p.Pro5Arg)	SHPK (P5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723438	NM_013276.4(SHPK):c.1204C>T (p.Leu402=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647235	NM_013276.4(SHPK):c.711G>C (p.Ala237=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621191	NM_013276.4(SHPK):c.392G>A (p.Arg131Gln)	LOC126862464, SHPK (R131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613340	NM_013276.4(SHPK):c.422C>T (p.Pro141Leu)	LOC126862464, SHPK (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2464514	NM_013276.4(SHPK):c.250G>A (p.Val84Ile)	SHPK (V84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425850	NC_000017.10:g.(?_3513854)_(3514286_?)del	SHPK	Deletion	not provided	GUncertain significance
Select item 2425849	NC_000017.10:g.(?_3513854)_(3533660_?)dup	SHPK	Duplication	not provided	GUncertain significance
Select item 2425848	NC_000017.10:g.(?_3447853)_(3571820_?)dup	CTNS, SHPK +3 more	Duplication	not provided	GUncertain significance
Select item 2425242	NC_000017.10:g.(?_3533479)_(3571820_?)dup	CTNS, SHPK +1 more	Duplication	not provided	GUncertain significance
Select item 2422206	NC_000017.10:g.(?_3379454)_(3819519_?)del	ASPA, CAMKK1 +11 more	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 2420234	NM_013276.4(SHPK):c.115G>T (p.Ala39Ser)	SHPK (A39S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420233	NM_013276.4(SHPK):c.118del (p.Arg40fs)	SHPK (R40fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2332573	NM_013276.4(SHPK):c.352C>A (p.Pro118Thr)	LOC126862464, SHPK (P118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310282	NM_013276.4(SHPK):c.1322A>G (p.Lys441Arg)	SHPK (K441R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261058	NM_013276.4(SHPK):c.620C>T (p.Thr207Met)	SHPK (T207M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258229	NM_013276.4(SHPK):c.29T>C (p.Ile10Thr)	SHPK (I10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250967	NM_013276.4(SHPK):c.64C>G (p.Leu22Val)	SHPK (L22V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239644	NM_013276.4(SHPK):c.535C>T (p.His179Tyr)	SHPK (H179Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204956	NM_013276.4(SHPK):c.1130A>G (p.His377Arg)	SHPK (H377R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2203232	NM_013276.4(SHPK):c.974A>G (p.Asn325Ser)	SHPK (N325S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2199220	NM_013276.4(SHPK):c.39dup (p.Thr14fs)	SHPK (T14fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2192670	NM_013276.4(SHPK):c.338C>T (p.Thr113Ile)	LOC126862464, SHPK (T113I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2192511	NM_013276.4(SHPK):c.1086A>G (p.Arg362=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191631	NM_013276.4(SHPK):c.1360T>G (p.Phe454Val)	SHPK (F454V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191337	NM_013276.4(SHPK):c.342G>A (p.Pro114=)	LOC126862464, SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189889	NM_013276.4(SHPK):c.1211G>A (p.Arg404Gln)	SHPK (R404Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185374	NM_013276.4(SHPK):c.972C>G (p.Gly324=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185336	NM_013276.4(SHPK):c.698C>T (p.Pro233Leu)	SHPK (P233L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174565	NM_013276.4(SHPK):c.1205T>G (p.Leu402Arg)	SHPK (L402R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168460	NM_013276.4(SHPK):c.494+5G>A	LOC126862464, SHPK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2165569	NM_013276.4(SHPK):c.991G>A (p.Val331Ile)	SHPK (V331I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160585	NM_013276.4(SHPK):c.691G>C (p.Ala231Pro)	SHPK (A231P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159277	NM_013276.4(SHPK):c.459C>T (p.Phe153=)	LOC126862464, SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158205	NM_013276.4(SHPK):c.660G>C (p.Ser220=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2146931	NM_013276.4(SHPK):c.203C>G (p.Ala68Gly)	SHPK (A68G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2146119	NM_013276.4(SHPK):c.84C>A (p.Asp28Glu)	SHPK (D28E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2141874	NM_013276.4(SHPK):c.1244C>A (p.Pro415Gln)	SHPK (P415Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2132882	NM_013276.4(SHPK):c.1308G>A (p.Arg436=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130346	NM_013276.4(SHPK):c.393A>G (p.Arg131=)	LOC126862464, SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114929	NM_013276.4(SHPK):c.888G>T (p.Gln296His)	SHPK (Q296H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095447	NM_013276.4(SHPK):c.859T>C (p.Ser287Pro)	SHPK (S287P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092964	NM_013276.4(SHPK):c.170G>A (p.Gly57Glu)	SHPK (G57E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087144	NM_013276.4(SHPK):c.615C>T (p.Phe205=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085571	NM_013276.4(SHPK):c.647+1G>A	SHPK	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2084878	NM_013276.4(SHPK):c.1050G>C (p.Val350=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078058	NM_013276.4(SHPK):c.527G>C (p.Gly176Ala)	SHPK (G176A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2070948	NM_013276.4(SHPK):c.1024+11G>A	SHPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2070477	NM_013276.4(SHPK):c.217C>G (p.Leu73Val)	SHPK (L73V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2062341	NM_013276.4(SHPK):c.262G>A (p.Gly88Arg)	SHPK (G88R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2059591	NM_013276.4(SHPK):c.1198C>T (p.Arg400Trp)	SHPK (R400W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054601	NM_013276.4(SHPK):c.690C>T (p.Ile230=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053265	NM_013276.4(SHPK):c.145G>C (p.Glu49Gln)	SHPK (E49Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051914	NM_013276.4(SHPK):c.902C>T (p.Thr301Met)	SHPK (T301M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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