C3661900[trait identifier] AND "Institute for Clinical Genetics, Unive - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1319167	NM_003036.4(SKI):c.41A>C (p.His14Pro)	SKI (H14P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1319166	NM_003036.4(SKI):c.953dup (p.Arg319fs)	SKI (R319fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 377206	NM_001042681.2(RERE):c.1964C>T (p.Ala655Val)	RERE (A655V +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1319059	NM_005026.5(PIK3CD):c.1772A>G (p.His591Arg)	PIK3CD (H562R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 157531	NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)	KIF1B (K294R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1319771	NM_001365951.3(KIF1B):c.1515-18T>G	KIF1B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 838914	NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)	KIF1B (S544N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1319770	NM_001365951.3(KIF1B):c.2115+12G>C	KIF1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1319619	NM_001365951.3(KIF1B):c.2115+6313G>A	KIF1B (V792I)	Single nucleotide variant (missense variant +1 more)	KIF1B-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1319769	NM_001365951.3(KIF1B):c.2115+6376A>G	KIF1B (S813G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1284949	NM_001365951.3(KIF1B):c.2115+6581G>A	KIF1B (G881D)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 806055	NM_001365951.3(KIF1B):c.2115+6835C>T	KIF1B (P966S)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 284016	NM_001365951.3(KIF1B):c.2115+7031T>C	KIF1B (I1031T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1319768	NM_001365951.3(KIF1B):c.2115+7126C>T	KIF1B (R1063C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4660	NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)	KIF1B (T827I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 570523	NM_001365951.3(KIF1B):c.2675+3A>G	KIF1B	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1319767	NM_001365951.3(KIF1B):c.2681C>G (p.Pro894Arg)	KIF1B, LOC126805614 (P848R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1319766	NM_001365951.3(KIF1B):c.2704G>A (p.Glu902Lys)	KIF1B, LOC126805614 (E856K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 964060	NM_001365951.3(KIF1B):c.3119A>G (p.Tyr1040Cys)	KIF1B (Y994C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 1319765	NM_001365951.3(KIF1B):c.3304G>A (p.Gly1102Arg)	KIF1B (G1056R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 196788	NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 155750	NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)	KIF1B (V1358A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 291580	NM_001365951.3(KIF1B):c.4265G>A (p.Arg1422His)	KIF1B (R1376H +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma +3 more	GUncertain significance
Select item 1005538	NM_001365951.3(KIF1B):c.4444C>T (p.Arg1482Trp)	KIF1B (R1436W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 694939	NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys)	KIF1B (E1506K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046940	NM_001365951.3(KIF1B):c.5039G>A (p.Arg1680Gln)	KIF1B (R1634Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1319764	NM_001365951.3(KIF1B):c.5423G>A (p.Arg1808His)	KIF1B (R1762H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 5210	NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)	MASP2 (D120G)	Single nucleotide variant (missense variant)	MASP2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1319068	NM_004958.4(MTOR):c.6619A>G (p.Thr2207Ala)	MTOR (T1791A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430352	NM_000302.4(PLOD1):c.1780G>A (p.Glu594Lys)	PLOD1 (E594K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 416445	NM_007272.3(CTRC):c.27G>A (p.Ala9=)	CTRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 701538	NM_007272.3(CTRC):c.549C>T (p.His183=)	CTRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 618055	NM_007272.3(CTRC):c.752T>C (p.Val251Ala)	CTRC (V251A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576051	NM_033440.3(CELA2A):c.697G>A (p.Gly233Ser)	CELA2A (G233S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 459169	NM_003000.3(SDHB):c.739A>G (p.Met247Val)	SDHB (M247V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 12781	NM_003000.3(SDHB):c.725G>A (p.Arg242His)	SDHB (R242H)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 184933	NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)	SDHB (R230L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 183735	NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)	SDHB (R217C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +7 more	GConflicting classifications of pathogenicity
Select item 412492	NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)	SDHB (S152F)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 184192	NM_003000.3(SDHB):c.24C>T (p.Ser8=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +7 more	GBenign/Likely benign
Select item 871133	NM_006015.6(ARID1A):c.2718C>G (p.Asn906Lys)	ARID1A (N906K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1319854	NM_006015.6(ARID1A):c.4085A>T (p.Tyr1362Phe)	ARID1A (Y1362F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319853	NM_006015.6(ARID1A):c.6275C>A (p.Ala2092Glu)	ARID1A (A1875E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319277	NM_017837.4(PIGV):c.428A>G (p.His143Arg)	PIGV (H143R +1 more)	Single nucleotide variant (intron variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1 +1 more	GUncertain significance
Select item 1319363	NM_001020658.2(PUM1):c.782T>G (p.Phe261Cys)	PUM1 (F261C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 646915	NM_003680.4(YARS1):c.178G>A (p.Ala60Thr)	YARS1 (A60T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 984614	NM_012199.5(AGO1):c.569T>C (p.Leu190Pro)	AGO1 (L115P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1319797	NM_001394062.1(MACF1):c.7194C>A (p.Ala2398=)	MACF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 374181	NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)	SLC2A1 (G134S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 207186	NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala)	SLC2A1 (E42A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 182685	NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr)	MUTYH (D530Y +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 464690	NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs)	MUTYH (Y436fs +6 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 127837	NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met)	MUTYH (T434M +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 41753	NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	MUTYH (R426C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 41752	NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)	MUTYH (L420M +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +8 more	GPathogenic/Likely pathogenic
Select item 142860	NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr)	MUTYH (P359T +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 479997	NM_001048174.2(MUTYH):c.989T>A (p.Phe330Tyr)	MUTYH (F358Y +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 183823	NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala)	MUTYH (P334A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 132703	NM_001048174.2(MUTYH):c.914-9C>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 41765	NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)	MUTYH (R309C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 233479	NM_001048174.2(MUTYH):c.652G>A (p.Val218Ile)	MUTYH (V246I +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 140877	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH (R245H +8 more)	Single nucleotide variant (missense variant +1 more)	Diffuse midline glioma, H3 K27-altered +7 more	GPathogenic/Likely pathogenic
Select item 185462	NM_001048174.2(MUTYH):c.640G>T (p.Val214Leu)	MUTYH (V242L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 229778	NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr)	MUTYH (A227T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 127847	NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)	MUTYH (I223V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1319310	NM_001048174.2(MUTYH):c.378+11G>A	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 383957	NM_001048174.2(MUTYH):c.305-6C>T	MUTYH	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 951920	NM_001048174.2(MUTYH):c.264+10C>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 183896	NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	MUTYH (R109W +6 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 135986	NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn)	MUTYH (D105N +5 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 132760	NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 481796	NM_001048174.2(MUTYH):c.142G>T (p.Val48Leu)	MUTYH (V76L +5 more)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 297472	NM_001048174.2(MUTYH):c.-6-14T>A	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1319347	NM_001048166.1(STIL):c.2218A>G (p.Ile740Val)	STIL (I693V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319803	NM_174936.4(PCSK9):c.1054G>T (p.Gly352Trp)	PCSK9 (G352W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 575758	NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys)	PCSK9 (R357C +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1319666	NM_001365792.1(DAB1):c.1310C>T (p.Thr437Ile)	DAB1 (T435I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306388	NM_001134673.4(NFIA):c.655A>C (p.Thr219Pro)	NFIA (T211P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3588	NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	ACADM (G267R +4 more)	Single nucleotide variant (missense variant)	ACADM-related condition +2 more	GPathogenic/Likely pathogenic
Select item 3586	NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	ACADM (K329E +4 more)	Single nucleotide variant (missense variant)	Abnormal circulating lipid concentration +7 more	GPathogenic/Likely pathogenic
Select item 99104	NM_000350.3(ABCA4):c.1937+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 2576023	NM_000350.3(ABCA4):c.769-5431G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576022	NM_000350.3(ABCA4):c.67-2830C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1319063	NM_001378969.1(KCND3):c.1313C>T (p.Ser438Leu)	KCND3 (S438L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319064	NM_001378969.1(KCND3):c.1063C>T (p.Pro355Ser)	KCND3 (P355S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576003	NM_015967.8(PTPN22):c.2201C>T (p.Ser734Phe)	AP4B1-AS1, PTPN22 (S679F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724290	NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val)	HSD3B2 (A167V)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 39555	NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)	ADAMTSL4-AS2, ADAMTSL4 (Q256fs)	Deletion	Ectopia lentis +3 more	GPathogenic
Select item 50932	NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	CCDST, FLG (R2447*)	Single nucleotide variant (nonsense)	FLG-related disorders +3 more	GPathogenic/Likely pathogenic
Select item 620185	NM_002016.2(FLG):c.3059C>G (p.Ser1020Ter)	CCDST, FLG (S1020*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1319702	NM_020699.4(GATAD2B):c.409C>T (p.Arg137Cys)	GATAD2B (R137C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21072	NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)	GBA1, LOC106627981 (S235P +2 more)	Single nucleotide variant (missense variant)	not specified +9 more	GPathogenic/Likely pathogenic
Select item 280768	NM_006912.6(RIT1):c.575C>T (p.Ala192Val)	RIT1 (A192V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 14498	NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	LMNA (R298C +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 546611	NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val)	ATP1A2 (A283V)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine +1 more	GConflicting classifications of pathogenicity
Select item 1319391	NM_000702.4(ATP1A2):c.2998G>A (p.Glu1000Lys)	ATP1A2 (E1000K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493432	NM_015331.3(NCSTN):c.1393G>A (p.Val465Met)	NCSTN (V327M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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