ClinVar for MedGen (Select 116061) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376538	NM_000396.4(CTSK):c.881T>C (p.Ile294Thr)	CTSK (I294T)	Single nucleotide variant (missense variant)	Pyknodysostosis	GUncertain significance
Select item 3241229	NM_000396.4(CTSK):c.655del (p.Ala219fs)	CTSK (A219fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 3241228	NM_000396.4(CTSK):c.20T>C (p.Leu7Pro)	CTSK (L7P)	Single nucleotide variant (missense variant)	Pyknodysostosis	GLikely pathogenic
Select item 3241227	NM_000396.4(CTSK):c.274G>T (p.Gly92Ter)	CTSK (G92*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 2687837	NM_000396.4(CTSK):c.150G>A (p.Trp50Ter)	CTSK (W50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2681036	NM_000396.4(CTSK):c.9del (p.Leu4fs)	CTSK (L4fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 2681035	NM_000396.4(CTSK):c.119del (p.Lys40fs)	CTSK (K40fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 2681034	NM_000396.4(CTSK):c.581del (p.Gly194fs)	CTSK (G194fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 2681033	NM_000396.4(CTSK):c.947_948del (p.Asn316fs)	CTSK (N316fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 2681032	NM_000396.4(CTSK):c.239_243+1del	CTSK	Deletion (splice donor variant)	Pyknodysostosis	GLikely pathogenic
Select item 2681031	NM_000396.4(CTSK):c.590_591del (p.Asp196_Ser197insTer)	CTSK	Microsatellite (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 2681030	NM_000396.4(CTSK):c.169_170del (p.Ile57fs)	CTSK (I57fs)	Microsatellite (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 2681029	NM_000396.4(CTSK):c.724_731del (p.Val242fs)	CTSK (V242fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 2681028	NM_000396.4(CTSK):c.78G>A (p.Trp26Ter)	CTSK (W26*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 2429369	NM_000396.4(CTSK):c.637_639del (p.Asn213del)	CTSK (N213del)	Deletion (inframe_deletion)	Pyknodysostosis	GUncertain significance
Select item 2202839	NM_000396.4(CTSK):c.737_738del (p.Ser246fs)	CTSK (S246fs)	Microsatellite (frameshift variant)	Pyknodysostosis +1 more	GPathogenic
Select item 2194206	NM_000396.4(CTSK):c.633G>A (p.Met211Ile)	CTSK (M211I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1961646	NM_000396.4(CTSK):c.818del (p.Asn273fs)	CTSK (N273fs)	Deletion (frameshift variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 1726673	NM_000396.4(CTSK):c.397C>T (p.Gln133Ter)	CTSK (Q133*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 1726462	NM_000396.4(CTSK):c.712delinsTCAGGCTTGCAT (p.Ala238fs)	CTSK (A238fs)	Indel (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 1726256	NM_000396.4(CTSK):c.127G>T (p.Glu43Ter)	CTSK (E43*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 1726007	NM_000396.4(CTSK):c.417T>A (p.Cys139Ter)	CTSK (C139*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 1725649	NM_000396.4(CTSK):c.696_697del (p.Lys233fs)	CTSK (K233fs)	Microsatellite (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 1725637	NM_000396.4(CTSK):c.214G>T (p.Glu72Ter)	CTSK (E72*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 1725489	NM_000396.4(CTSK):c.163A>T (p.Lys55Ter)	CTSK (K55*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 1724997	NM_000396.4(CTSK):c.334G>T (p.Glu112Ter)	CTSK (E112*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 1724987	NM_000396.4(CTSK):c.616C>T (p.Gln206Ter)	CTSK (Q206*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 1724839	NM_000396.4(CTSK):c.475_476insAGCCATCATTG (p.Leu159fs)	CTSK (L159fs)	Insertion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 1724741	NM_000396.4(CTSK):c.658A>T (p.Lys220Ter)	CTSK (K220*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1724532	NM_000396.4(CTSK):c.690del (p.Asn231fs)	CTSK (N231fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 1724320	NM_000396.4(CTSK):c.113del (p.Asn38fs)	CTSK (N38fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 1724188	NM_000396.4(CTSK):c.151dup (p.Glu51fs)	CTSK (E51fs)	Duplication (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 1685684	NM_000396.4(CTSK):c.83dup (p.Trp29fs)	CTSK (W29fs)	Duplication (frameshift variant)	Pyknodysostosis	GPathogenic
Select item 1451614	NM_000396.4(CTSK):c.894G>A (p.Trp298Ter)	CTSK (W298*)	Single nucleotide variant (nonsense)	Pyknodysostosis +1 more	GPathogenic
Select item 1403119	NM_000396.4(CTSK):c.814G>A (p.Asp272Asn)	CTSK (D272N)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GUncertain significance
Select item 1403033	NM_000396.4(CTSK):c.505G>A (p.Asp169Asn)	CTSK (D169N)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GConflicting classifications of pathogenicity
Select item 1332840	NM_000396.4(CTSK):c.148T>G (p.Trp50Gly)	CTSK (W50G)	Single nucleotide variant (missense variant)	Pyknodysostosis	GLikely pathogenic
Select item 1332837	NM_000396.4(CTSK):c.120+1G>T	CTSK	Single nucleotide variant (splice donor variant)	Pyknodysostosis	GPathogenic
Select item 1332709	NM_000396.4(CTSK):c.399+1G>A	CTSK	Single nucleotide variant (splice donor variant)	Pyknodysostosis	GPathogenic
Select item 1301984	NM_000396.4(CTSK):c.746T>A (p.Ile249Asn)	CTSK (I249N)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GLikely pathogenic
Select item 1166561	NM_000396.4(CTSK):c.831A>G (p.Ala277=)	CTSK	Single nucleotide variant (synonymous variant)	Pyknodysostosis +1 more	GBenign
Select item 1085150	NM_000396.4(CTSK):c.30T>G (p.Pro10=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1076677	NM_000396.4(CTSK):c.364C>T (p.Arg122Ter)	CTSK (R122*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1076504	NM_000396.4(CTSK):c.419G>A (p.Trp140Ter)	CTSK (W140*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1073787	NM_000396.4(CTSK):c.190_200del (p.Ala64fs)	CTSK (A64fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1050778	NM_000396.4(CTSK):c.8G>A (p.Gly3Glu)	CTSK (G3E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 991402	NM_000396.4(CTSK):c.606A>G (p.Pro202=)	CTSK	Single nucleotide variant (synonymous variant)	Pyknodysostosis	GUncertain significance
Select item 983497	NM_000396.4(CTSK):c.827A>G (p.His276Arg)	CTSK (H276R)	Single nucleotide variant (missense variant)	Pyknodysostosis	GLikely pathogenic
Select item 982143	NM_000396.4(CTSK):c.375A>G (p.Gly125=)	CTSK	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 982142	NM_000396.4(CTSK):c.243+4A>G	CTSK	Single nucleotide variant (intron variant)	Pyknodysostosis	GUncertain significance
Select item 982107	NM_000396.4(CTSK):c.5G>A (p.Trp2Ter)	CTSK (W2*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GPathogenic
Select item 982106	NM_000396.4(CTSK):c.244-29A>G	CTSK	Single nucleotide variant (intron variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 981511	NM_000396.4(CTSK):c.402del (p.Gln135fs)	CTSK (Q135fs)	Deletion (frameshift variant)	Pyknodysostosis	GPathogenic
Select item 981510	NM_000396.4(CTSK):c.884A>C (p.Lys295Thr)	CTSK (K295T)	Single nucleotide variant (missense variant)	Pyknodysostosis	GUncertain significance
Select item 981509	NM_000396.4(CTSK):c.431_432del (p.Ser144fs)	CTSK (S144fs)	Microsatellite (frameshift variant)	Pyknodysostosis	GPathogenic
Select item 981508	NM_000396.4(CTSK):c.907G>A (p.Gly303Arg)	CTSK (G303R)	Single nucleotide variant (missense variant)	Pyknodysostosis	GPathogenic
Select item 981507	NM_000396.4(CTSK):c.556T>C (p.Phe186Leu)	CTSK (F186L)	Single nucleotide variant (missense variant)	Pyknodysostosis	GLikely pathogenic
Select item 981506	NM_000396.4(CTSK):c.458del (p.Lys153fs)	CTSK (K153fs)	Deletion (frameshift variant)	Pyknodysostosis	GPathogenic
Select item 977220	NM_000396.4(CTSK):c.547A>C (p.Thr183Pro)	CTSK (T183P)	Single nucleotide variant (missense variant)	Pyknodysostosis	GLikely pathogenic
Select item 962917	NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)	CTSK (I249T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 954275	NM_000396.4(CTSK):c.158dup (p.Asn53fs)	CTSK (N53fs)	Duplication (frameshift variant)	Pyknodysostosis +1 more	GPathogenic
Select item 876505	NM_000396.3(CTSK):c.-83G>A	CTSK	Single nucleotide variant	Pyknodysostosis	GUncertain significance
Select item 875490	NM_000396.4(CTSK):c.22C>T (p.Leu8=)	CTSK	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875489	NM_000396.4(CTSK):c.685G>A (p.Glu229Lys)	CTSK (E229K)	Single nucleotide variant (missense variant)	Pyknodysostosis	GUncertain significance
Select item 874565	NM_000396.4(CTSK):c.*342C>T	CTSK	Single nucleotide variant (3 prime UTR variant)	Pyknodysostosis	GUncertain significance
Select item 874564	NM_000396.4(CTSK):c.*461C>A	CTSK	Single nucleotide variant (3 prime UTR variant)	Pyknodysostosis	GUncertain significance
Select item 874563	NM_000396.4(CTSK):c.*467A>G	CTSK	Single nucleotide variant (3 prime UTR variant)	Pyknodysostosis	GUncertain significance
Select item 859435	NM_000396.4(CTSK):c.121-1G>A	CTSK	Single nucleotide variant (splice acceptor variant)	Pyknodysostosis +1 more	GPathogenic
Select item 801542	NM_000396.4(CTSK):c.826C>T (p.His276Tyr)	CTSK (H276Y)	Single nucleotide variant (missense variant)	Pyknodysostosis	GLikely pathogenic
Select item 754103	NM_000396.4(CTSK):c.117C>T (p.Asn39=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719657	NM_000396.4(CTSK):c.399+9C>T	CTSK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712808	NM_000396.4(CTSK):c.816T>A (p.Asp272Glu)	CTSK (D272E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 684727	NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)	CTSK (W302*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 664665	NM_000396.4(CTSK):c.503T>C (p.Val168Ala)	CTSK (V168A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 649051	NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)	CTSK (C318Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 623333	NM_000396.4(CTSK):c.891-1G>T	CTSK	Single nucleotide variant (splice acceptor variant)	Pyknodysostosis	GPathogenic
Select item 623298	NM_000396.4(CTSK):c.618+2T>G	CTSK	Single nucleotide variant (splice donor variant)	Pyknodysostosis	GLikely pathogenic
Select item 556938	NM_000396.4(CTSK):c.826del (p.His276fs)	CTSK (H276fs)	Deletion (frameshift variant)	Pyknodysostosis +1 more	GLikely pathogenic
Select item 556867	NM_000396.4(CTSK):c.749A>G (p.Asp250Gly)	CTSK (D250G)	Single nucleotide variant (missense variant)	Pyknodysostosis	GUncertain significance
Select item 555205	NM_000396.4(CTSK):c.365G>A (p.Arg122Gln)	CTSK (R122Q)	Single nucleotide variant (missense variant)	Pyknodysostosis	GUncertain significance
Select item 554307	NM_000396.4(CTSK):c.891-21_892dup	CTSK	Duplication (splice acceptor variant)	Pyknodysostosis	GLikely pathogenic
Select item 553900	NM_000396.4(CTSK):c.21GCT[1] (p.Leu9del)	CTSK (L9del)	Microsatellite (inframe_deletion)	Pyknodysostosis	GUncertain significance
Select item 553629	NM_000396.4(CTSK):c.263A>C (p.Gln88Pro)	CTSK (Q88P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 553560	NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)	CTSK (R46W)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 553284	NM_000396.4(CTSK):c.114CAA[1] (p.Asn39del)	CTSK (N39del)	Microsatellite (inframe_deletion)	Pyknodysostosis	GUncertain significance
Select item 551777	NM_000396.4(CTSK):c.3G>A (p.Met1Ile)	CTSK (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551507	NM_000396.4(CTSK):c.876G>A (p.Trp292Ter)	CTSK (W292*)	Single nucleotide variant (nonsense)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 551416	NM_000396.4(CTSK):c.618+1G>A	CTSK	Single nucleotide variant (splice donor variant)	Pyknodysostosis	GLikely pathogenic
Select item 551299	NM_000396.4(CTSK):c.784+1G>A	CTSK	Single nucleotide variant (splice donor variant)	Pyknodysostosis +1 more	GLikely pathogenic
Select item 551101	NM_000396.4(CTSK):c.576_577delinsG (p.Asn192fs)	CTSK (N192fs)	Indel (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 550892	NM_000396.4(CTSK):c.400-1G>C	CTSK	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 550217	NM_000396.4(CTSK):c.669del (p.Tyr224fs)	CTSK (Y224fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 550003	NM_000396.4(CTSK):c.577C>T (p.Arg193Trp)	CTSK (R193W)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GUncertain significance
Select item 522671	NM_000396.4(CTSK):c.578G>A (p.Arg193Gln)	CTSK (R193Q)	Single nucleotide variant (missense variant)	Pyknodysostosis +2 more	GUncertain significance
Select item 371513	NM_000396.4(CTSK):c.289_290del (p.Leu97fs)	CTSK (L97fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 371447	NM_000396.4(CTSK):c.120+1G>A	CTSK	Single nucleotide variant (splice donor variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 371429	NM_000396.4(CTSK):c.243+1G>A	CTSK	Single nucleotide variant (splice donor variant)	Pyknodysostosis	GLikely pathogenic
Select item 371426	NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)	CTSK (R312*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371412	NM_000396.4(CTSK):c.26T>C (p.Leu9Pro)	CTSK (L9P)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GLikely pathogenic
Select item 371328	NM_000396.4(CTSK):c.568C>T (p.Gln190Ter)	CTSK (Q190*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

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