SHPK[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +166 more	Copy number gain	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 60099	GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3	ASPA, CTNS +33 more	Copy number gain	See cases	GUncertain significance
Select item 148256	GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3	ASPA, CTNS +28 more	Copy number gain	See cases	GUncertain significance
Select item 155543	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3	ASPA, CTNS +47 more	Copy number gain	See cases	GLikely benign
Select item 153806	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 154726	GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 583521	NC_000017.11:g.(?_3489235)_(3729555_?)del	EMC6, HASPIN +27 more	Deletion	not provided	GUncertain significance
Select item 150930	GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1	ASPA, CTNS +27 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 154546	GRCh38/hg38 17p13.2(chr17:3543809-3711347)x1	CTNS, CTNS-AS1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 57150	GRCh38/hg38 17p13.2(chr17:3543809-3658724)x3	CTNS, CTNS-AS1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 4445	NC_000017.11:g.3600934_3658165del	CTNS, CTNS-AS1 +6 more	Deletion	Nephropathic cystinosis	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 157374	Single allele	CTNS, CTNS-AS1 +11 more	Deletion	Normal pregnancy	Gnot provided
Select item 1498026	NM_013276.4(SHPK):c.1435T>C (p.Ter479Gln)	SHPK	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1427541	NM_013276.4(SHPK):c.1409G>A (p.Arg470Gln)	SHPK (R470Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1433597	NM_013276.4(SHPK):c.1352C>T (p.Pro451Leu)	SHPK (P451L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044045	NM_013276.4(SHPK):c.1341T>C (p.Ala447=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435117	NM_013276.4(SHPK):c.1338G>T (p.Arg446Ser)	SHPK (R446S)	Single nucleotide variant (missense variant)	not provided	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 2132882	NM_013276.4(SHPK):c.1308G>A (p.Arg436=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980003	NM_013276.4(SHPK):c.1299G>A (p.Ala433=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3318343	NM_013276.4(SHPK):c.1297G>A (p.Ala433Thr)	SHPK (A433T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1407687	NM_013276.4(SHPK):c.1277G>T (p.Arg426Met)	SHPK (R426M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929070	NM_013276.4(SHPK):c.1269C>T (p.Gly423=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1416183	NM_013276.4(SHPK):c.1263G>C (p.Glu421Asp)	SHPK (E421D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165475	NM_013276.4(SHPK):c.1263= (p.Glu421=)	SHPK	Variation (no sequence alteration)	not provided	GBenign
Select item 1924706	NM_013276.4(SHPK):c.1259A>T (p.Gln420Leu)	SHPK (Q420L)	Single nucleotide variant (missense variant)	not provided	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 2141874	NM_013276.4(SHPK):c.1244C>A (p.Pro415Gln)	SHPK (P415Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 786430	NM_013276.4(SHPK):c.1237A>G (p.Met413Val)	SHPK (M413V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1491210	NM_013276.4(SHPK):c.1232A>G (p.His411Arg)	SHPK (H411R)	Single nucleotide variant (missense 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 +1 more	GUncertain significance
Select item 2189889	NM_013276.4(SHPK):c.1211G>A (p.Arg404Gln)	SHPK (R404Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1931542	NM_013276.4(SHPK):c.1210C>T (p.Arg404Ter)	SHPK (R404*)	Single nucleotide variant (nonsense)	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 2723438	NM_013276.4(SHPK):c.1204C>T (p.Leu402=)	SHPK	Single nucleotide variant (synonymous 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 1440640	NM_013276.4(SHPK):c.1192G>A (p.Val398Met)	SHPK (V398M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1914688	NM_013276.4(SHPK):c.1183dup (p.Leu395fs)	SHPK (L395fs)	Duplication (frameshift variant)	not provided	GUncertain significance
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 2958353	NM_013276.4(SHPK):c.1182C>T (p.Ser394=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532199	NM_013276.4(SHPK):c.1179C>G (p.Leu393=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906803	NM_013276.4(SHPK):c.1174G>A (p.Asp392Asn)	SHPK (D392N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1423278	NM_013276.4(SHPK):c.1157_1161del (p.Thr386fs)	SHPK (T386fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1982203	NM_013276.4(SHPK):c.1136C>T (p.Pro379Leu)	SHPK (P379L)	Single nucleotide variant (missense variant)	not provided	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 1390119	NM_013276.4(SHPK):c.1127G>C (p.Arg376Thr)	SHPK (R376T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 757037	NM_013276.4(SHPK):c.1122G>A (p.Gly374=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730381	NM_013276.4(SHPK):c.1110G>A (p.Pro370=)	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 3161872	NM_013276.4(SHPK):c.1087G>T (p.Asp363Tyr)	SHPK (D363Y)	Single nucleotide variant (missense variant)	not specified	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 1925902	NM_013276.4(SHPK):c.1073C>T (p.Ala358Val)	SHPK (A358V)	Single nucleotide variant (missense 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 2916310	NM_013276.4(SHPK):c.1032G>A (p.Glu344=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1721246	NM_013276.4(SHPK):c.1025G>A (p.Gly342Asp)	SHPK (G342D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1575151	NM_013276.4(SHPK):c.1025-7C>T	SHPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604476	NM_013276.4(SHPK):c.1024+18C>T	SHPK	Single nucleotide variant (intron 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 1627305	NM_013276.4(SHPK):c.1024+12C>T	SHPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2070948	NM_013276.4(SHPK):c.1024+11G>A	SHPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604413	NM_013276.4(SHPK):c.1024+8G>A	SHPK	Single nucleotide variant (intron 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 2165569	NM_013276.4(SHPK):c.991G>A (p.Val331Ile)	SHPK (V331I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960112	NM_013276.4(SHPK):c.986C>T (p.Thr329Met)	SHPK (T329M)	Single nucleotide variant (missense variant)	not provided	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 2185374	NM_013276.4(SHPK):c.972C>G (p.Gly324=)	SHPK	Single nucleotide variant (synonymous 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 1605542	NM_013276.4(SHPK):c.966C>T (p.Asn322=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1361241	NM_013276.4(SHPK):c.956C>T (p.Ala319Val)	SHPK (A319V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791197	NM_013276.4(SHPK):c.955G>A (p.Ala319Thr)	SHPK (A319T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1663292	NM_013276.4(SHPK):c.945G>A (p.Leu315=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2818304	NM_013276.4(SHPK):c.923C>G (p.Pro308Arg)	SHPK (P308R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399470	NM_013276.4(SHPK):c.913G>A (p.Ala305Thr)	SHPK (A305T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388531	NM_013276.4(SHPK):c.902_903insTACTGGAGTAGTA (p.Ala302fs)	SHPK (A302fs)	Insertion (frameshift 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
Select item 1504737	NM_013276.4(SHPK):c.901A>G (p.Thr301Ala)	SHPK (T301A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1939348	NM_013276.4(SHPK):c.866C>T (p.Pro289Leu)	SHPK (P289L)	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 1444243	NM_013276.4(SHPK):c.842C>T (p.Ser281Leu)	SHPK (S281L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728410	NM_013276.4(SHPK):c.831C>T (p.Asn277=)	SHPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906302	NM_013276.4(SHPK):c.824-9G>A	SHPK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1909288	NM_013276.4(SHPK):c.824-10C>G	SHPK	Single nucleotide variant (intron variant)	not provided	GLikely benign

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