ClinVar for MedGen (Select 18012) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663836	NM_032409.3(PINK1):c.943T>C (p.Phe315Leu)	PINK1, PINK1-AS (F315L)	Single nucleotide variant (missense variant)	Neuroblastoma	GUncertain significance
Select item 877032	NM_001365951.3(KIF1B):c.3849A>G (p.Thr1283=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 877031	NM_001365951.3(KIF1B):c.3740T>C (p.Met1247Thr)	KIF1B (M1201T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 876403	NM_001365951.3(KIF1B):c.*4641T>C	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 876402	NM_001365951.3(KIF1B):c.*4238G>T	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GLikely benign
Select item 876326	NM_001365951.3(KIF1B):c.*1977G>C	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 876325	NM_001365951.3(KIF1B):c.*1618C>G	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 876324	NM_001365951.3(KIF1B):c.*1566A>T	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 876278	NM_001365951.3(KIF1B):c.*187T>G	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 876277	NM_001365951.3(KIF1B):c.5409-15G>A	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 876238	NM_001365951.3(KIF1B):c.*2821C>T	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 876237	NM_001365951.3(KIF1B):c.*2732G>C	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GBenign
Select item 876185	NM_001365951.3(KIF1B):c.*1555T>C	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 876184	NM_001365951.3(KIF1B):c.*1541C>T	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 876183	NM_001365951.3(KIF1B):c.*1503C>T	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GBenign
Select item 876182	NM_001365951.3(KIF1B):c.*1238G>A	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GLikely benign
Select item 876181	NM_001365951.3(KIF1B):c.*1224C>T	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 876180	NM_001365951.3(KIF1B):c.*1195C>T	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 876140	NM_001365951.3(KIF1B):c.4967G>A (p.Arg1656Gln)	KIF1B (R1656Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 876139	NM_001365951.3(KIF1B):c.4669G>A (p.Ala1557Thr)	KIF1B (A1511T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 876138	NM_001365951.3(KIF1B):c.4642C>G (p.Gln1548Glu)	KIF1B (Q1548E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 876069	NM_001365951.3(KIF1B):c.3513+7G>T	KIF1B	Single nucleotide variant (intron variant)	KIF1B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 876068	NM_001365951.3(KIF1B):c.3141G>A (p.Ser1047=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 875997	NM_001365951.3(KIF1B):c.1941T>C (p.Thr647=)	KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma	GUncertain significance
Select item 875939	NM_001365951.3(KIF1B):c.1435-15C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign/Likely benign
Select item 875785	NM_001365951.3(KIF1B):c.1376G>A (p.Ser459Asn)	KIF1B (S459N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 875479	NM_001365951.3(KIF1B):c.706C>G (p.Leu236Val)	KIF1B (L236V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 875478	NM_001365951.3(KIF1B):c.429+7A>G	KIF1B, LOC129388447	Single nucleotide variant (intron variant)	Neuroblastoma +1 more	GLikely benign
Select item 875369	NM_001365951.3(KIF1B):c.*4179A>G	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 875368	NM_001365951.3(KIF1B):c.*4041C>G	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GLikely benign
Select item 875367	NM_001365951.3(KIF1B):c.*3921C>T	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 875321	NM_001365951.3(KIF1B):c.*3841G>A	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 875320	NM_001365951.3(KIF1B):c.*3690C>A	KIF1B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 875278	NM_001365951.3(KIF1B):c.*2435C>A	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 875277	NM_001365951.3(KIF1B):c.*2384A>G	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 875226	NM_001365951.3(KIF1B):c.*858C>G	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 875168	NM_001365951.3(KIF1B):c.4544G>A (p.Arg1515His)	KIF1B (R1469H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 875167	NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser)	KIF1B (G1382S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 875118	NM_001365951.3(KIF1B):c.2516A>G (p.Tyr839Cys)	KIF1B (Y839C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 874847	NM_001365951.3(KIF1B):c.1306A>G (p.Met436Val)	KIF1B (M390V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma +1 more	GUncertain significance
Select item 874752	NM_001365951.3(KIF1B):c.999C>T (p.Pro333=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 874751	NM_001365951.3(KIF1B):c.883-15C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 874555	NM_001365951.3(KIF1B):c.264A>G (p.Gly88=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 874554	NM_001365951.3(KIF1B):c.159C>T (p.Asp53=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 874553	NM_001365951.3(KIF1B):c.-68G>A	KIF1B	Single nucleotide variant (5 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 874452	NM_001365951.3(KIF1B):c.*4963G>A	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 874451	NM_001365951.3(KIF1B):c.*4940T>A	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 874450	NM_001365951.3(KIF1B):c.*4894T>C	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GBenign
Select item 874449	NM_001365951.3(KIF1B):c.*4648T>C	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 874412	NM_001365951.3(KIF1B):c.*3618C>G	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 874411	NM_001365951.3(KIF1B):c.*3481T>C	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 874410	NM_001365951.3(KIF1B):c.*3432A>G	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 874409	NM_001365951.3(KIF1B):c.*3355C>A	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 874408	NM_001365951.3(KIF1B):c.*3352G>C	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GLikely benign
Select item 874355	NM_001365951.3(KIF1B):c.*2128C>T	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 874354	NM_001365951.3(KIF1B):c.*2114C>G	KIF1B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874293	NM_001365951.3(KIF1B):c.*663C>T	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 874292	NM_001365951.3(KIF1B):c.*256A>G	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 874291	NM_001365951.3(KIF1B):c.*201A>G	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 874244	NM_001365951.3(KIF1B):c.4131T>C (p.Tyr1377=)	KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma	GUncertain significance
Select item 874243	NM_001365951.3(KIF1B):c.4037C>G (p.Ser1346Cys)	KIF1B (S1300C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 874242	NM_001365951.3(KIF1B):c.3953G>A (p.Arg1318His)	KIF1B (R1272H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 873556	NM_001365951.3(KIF1B):c.-80+13G>A	KIF1B	Single nucleotide variant (intron variant)	Neuroblastoma	GUncertain significance
Select item 873555	NM_001365951.3(KIF1B):c.-97G>A	KIF1B	Single nucleotide variant (5 prime UTR variant)	Neuroblastoma	GUncertain significance
Select item 801434	NM_001365951.3(KIF1B):c.5406A>G (p.Ile1802Met)	KIF1B (I1756M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 801433	NM_001365951.3(KIF1B):c.3430C>T (p.His1144Tyr)	KIF1B (H1098Y +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma	GUncertain significance
Select item 801432	NM_001365951.3(KIF1B):c.363+9C>A	KIF1B	Single nucleotide variant (intron variant)	Neuroblastoma	GLikely benign
Select item 699521	NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)	KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma +4 more	GConflicting classifications of pathogenicity
Select item 696808	NM_001365951.3(KIF1B):c.4338A>G (p.Leu1446=)	KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma +3 more	GBenign/Likely benign
Select item 642188	NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)	KIF1B (R72H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 620611	NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser)	LOC130002133, PTCH1 (G19S)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 620610	NM_001370259.2(MEN1):c.262G>T (p.Ala88Ser)	MEN1 (A88S)	Single nucleotide variant (missense variant)	Neuroblastoma	GUncertain significance
Select item 620608	NM_000368.5(TSC1):c.2488C>G (p.Gln830Glu)	TSC1 (Q830E +3 more)	Single nucleotide variant (missense variant)	Neuroblastoma	GUncertain significance
Select item 590848	NM_003072.5(SMARCA4):c.535C>T (p.Gln179Ter)	SMARCA4 (Q179*)	Single nucleotide variant (nonsense +1 more)	Neuroblastoma	GLikely pathogenic
Select item 545115	NM_004304.5(ALK):c.3512T>C (p.Ile1171Thr)	ALK (I1171T +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma	GPathogenic
Select item 545114	NM_000135.4(FANCA):c.4261-2A>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 545113	NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)	FANCA (L910F)	Single nucleotide variant (missense variant)	Neuroblastoma +1 more	GConflicting classifications of pathogenicity
Select item 543261	NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=)	KIF1B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 476791	NM_001365951.3(KIF1B):c.1014C>T (p.Tyr338=)	KIF1B	Single nucleotide variant (synonymous variant)	KIF1B-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 438793	NM_000548.5(TSC2):c.3284+1G>T	TSC2	Single nucleotide variant (splice donor variant)	Neuroblastoma	Gother
Select item 438785	NM_022768.5(RBM15):c.1912C>A (p.Gln638Lys)	LOC112577475, RBM15 (Q638K)	Single nucleotide variant (missense variant)	Neuroblastoma	Gother
Select item 438782	NM_001015877.2(PHF6):c.119C>A (p.Ala40Glu)	PHF6 (A40E)	Single nucleotide variant (missense variant)	Neuroblastoma	Gother
Select item 438780	NM_006180.6(NTRK2):c.970T>A (p.Leu324Met)	NTRK2 (L324M +2 more)	Single nucleotide variant (missense variant)	Neuroblastoma	Gother
Select item 438775	NM_000245.4(MET):c.985C>A (p.Leu329Ile)	MET (L329I)	Single nucleotide variant (missense variant +1 more)	Neuroblastoma	Gother
Select item 438771	NM_145185.4(MAP2K7):c.752T>C (p.Leu251Pro)	MAP2K7 (L251P +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma	Gother
Select item 438770	NM_003010.4(MAP2K4):c.538C>G (p.Leu180Val)	MAP2K4 (L191V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma	Gother
Select item 438762	NM_000142.5(FGFR3):c.991T>C (p.Phe331Leu)	FGFR3 (F331L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 438754	NM_000059.4(BRCA2):c.1075G>A (p.Glu359Lys)	BRCA2 (E359K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 408309	NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)	KIF1B (I523V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GUncertain significance
Select item 376713	NM_004304.5(ALK):c.3497T>G (p.Met1166Arg)	ALK (M1166R +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma	GLikely pathogenic
Select item 376712	NM_004304.5(ALK):c.3733T>C (p.Phe1245Leu)	ALK (F1245L +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma	GLikely pathogenic
Select item 376589	NM_000546.6(TP53):c.842A>C (p.Asp281Ala)	TP53 (D149A +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary	GLikely pathogenic
Select item 376588	NM_000546.6(TP53):c.841G>C (p.Asp281His)	TP53 (D149H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 376587	NM_000546.6(TP53):c.843C>G (p.Asp281Glu)	TP53 (D149E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 376586	NM_000546.6(TP53):c.841G>A (p.Asp281Asn)	TP53 (D149N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 376585	NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)	TP53 (D149Y +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 376511	NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp)	PTPN11 (A72D +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma +3 more	GLikely pathogenic
Select item 376484	NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)	PIK3CA (K111R)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +10 more	GLikely pathogenic
Select item 376483	NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn)	PIK3CA (K111N)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 376482	NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)	PIK3CA (K111E)	Single nucleotide variant (missense variant)	Cowden syndrome 5	GPathogenic

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