C3661900[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521213	NM_002074.5(GNB1):c.353A>G (p.Asp118Gly)	GNB1 (D118G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 812755	NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr)	GNB1 (D118Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypotonia +2 more	GPathogenic/Likely pathogenic
Select item 224715	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)	GNB1 (I80N)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +2 more	GPathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder +7 more	GPathogenic/Likely pathogenic
Select item 224714	NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	GNB1 (K78R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 296273	NM_002617.4(PEX10):c.814_815del (p.Leu272fs)	PEX10 (L272fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +4 more	GPathogenic
Select item 37134	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	NMNAT1 (E257K)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic
Select item 21481	NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)	TARDBP	Single nucleotide variant (missense variant)	TARDBP-related condition +4 more	GConflicting classifications of pathogenicity
Select item 21483	NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)	TARDBP	Single nucleotide variant (missense variant)	Motor neuron disease +3 more	GPathogenic/Likely pathogenic
Select item 21484	NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)	TARDBP (G294V)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +2 more	GPathogenic
Select item 5232	NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GPathogenic
Select item 5228	NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)	TARDBP	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 5234	NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)	TARDBP	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 21468	NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)	TARDBP	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 21474	NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)	TARDBP	Single nucleotide variant (missense variant)	TARDBP-related condition +3 more	GPathogenic/Likely pathogenic
Select item 190399	NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GConflicting classifications of pathogenicity
Select item 14364	NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)	PLOD1 (R319* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 14370	NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)	PLOD1 (Y511* +1 more)	Single nucleotide variant (nonsense)	PLOD1-related condition +4 more	GPathogenic
Select item 240763	NM_007272.3(CTRC):c.180C>A (p.Gly60=)	CTRC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 132150	NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)	CTRC	Deletion (inframe_deletion)	not specified +2 more	GPathogenic
Select item 8178	NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)	CTRC (R254W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity; association
Select item 703421	NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser)	PINK1, PINK1-AS (G411S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2415	NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter)	PINK1, PINK1-AS (Q456*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 197679	NM_000478.6(ALPL):c.455G>A (p.Arg152His)	ALPL (R152H +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +6 more	GBenign/Likely benign
Select item 13670	NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	ALPL (E191K +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +8 more	GPathogenic/Likely pathogenic
Select item 198423	NM_000478.6(ALPL):c.787T>C (p.Tyr263His)	ALPL (Y263H +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign
Select item 13673	NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	ALPL (F327L +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +5 more	GPathogenic/Likely pathogenic
Select item 13672	NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	ALPL (G334D +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +6 more	GPathogenic/Likely pathogenic
Select item 13671	NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)	ALPL (D378V +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +5 more	GPathogenic
Select item 13674	NM_000478.6(ALPL):c.1559del (p.Leu520fs)	ALPL (L443fs +2 more)	Deletion (frameshift variant)	Hypophosphatasia +3 more	GPathogenic
Select item 193996	NM_000478.6(ALPL):c.1565T>C (p.Val522Ala)	ALPL (V522A +2 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 3681	NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)	GALE (G319E)	Single nucleotide variant (missense variant)	GALE-related condition +2 more	GConflicting classifications of pathogenicity; other
Select item 3679	NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)	GALE (K257R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity; other
Select item 21171	NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)	GALE (R169W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3682	NM_001008216.2(GALE):c.280G>A (p.Val94Met)	GALE (V94M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 984932	NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)	GALE (R51W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 4496	NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	SELENON (G315S +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +5 more	GPathogenic/Likely pathogenic
Select item 133326	NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs)	AHDC1 (C791fs)	Microsatellite (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +4 more	GPathogenic
Select item 8904	NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	PPT1 (R151* +1 more)	Single nucleotide variant (nonsense)	PPT1-related condition +5 more	GPathogenic/Likely pathogenic
Select item 8899	NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)	PPT1 (R122W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 21425	NM_004700.4(KCNQ4):c.648C>T (p.Arg216=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 6242	NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)	KCNQ4 (W276S)	Single nucleotide variant (missense variant)	Rare genetic deafness	GPathogenic
Select item 6244	NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys)	KCNQ4 (G285C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 6241	NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)	KCNQ4 (G285S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 16120	NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)	SLC2A1 (R468W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198842	NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	SLC2A1 (R333W)	Single nucleotide variant (missense variant)	Dystonia 9 +8 more	GPathogenic/Likely pathogenic
Select item 207229	NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)	SLC2A1 (T295M)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome +3 more	GPathogenic
Select item 16111	NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	SLC2A1 (R126H)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 16118	NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	SLC2A1 (R126C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 4439	NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)	EIF2B3 (A87V)	Single nucleotide variant (missense variant)	EIF2B3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 254172	NM_000374.5(UROD):c.578G>C (p.Arg193Pro)	UROD (R193P)	Single nucleotide variant (missense variant +1 more)	UROD-Related Disorders +1 more	GLikely pathogenic
Select item 67	NM_000374.5(UROD):c.636+1G>C	UROD	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 66	NM_000374.5(UROD):c.842G>A (p.Gly281Glu)	UROD (G281E)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 127838	NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)	MUTYH (E480del +7 more)	Microsatellite (inframe_deletion +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic
Select item 5297	NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	MUTYH (E466* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic
Select item 127831	NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	MUTYH (E383fs +7 more)	Duplication (frameshift variant +1 more)	MUTYH-related condition +3 more	GPathogenic/Likely pathogenic
Select item 142604	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	MUTYH (P391L +7 more)	Single nucleotide variant (missense variant +1 more)	Gastric cancer +4 more	GPathogenic
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 134860	NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	MUTYH (A357fs +7 more)	Deletion (frameshift variant +1 more)	MUTYH-related condition +4 more	GPathogenic/Likely pathogenic
Select item 41751	NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)	MUTYH (A359V +7 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related condition +4 more	GBenign/Likely benign
Select item 182691	NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)	MUTYH (G258E +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related condition +4 more	GPathogenic/Likely pathogenic
Select item 5296	NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	MUTYH (Y90* +5 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic/Likely pathogenic
Select item 1421	NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	MMACHC (R91fs +1 more)	Duplication (frameshift variant)	MMACHC-related condition +5 more	GPathogenic
Select item 1424	NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	MMACHC (R111* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +1 more	GPathogenic
Select item 1423	NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	MMACHC (R132* +1 more)	Single nucleotide variant (nonsense)	cblC type of combined methylmalonic aciduria and homocystinuria +3 more	GPathogenic
Select item 203828	NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	MMACHC (G147A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1425	NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	MMACHC (R161Q +1 more)	Single nucleotide variant (missense variant)	MMACHC-related condition +3 more	GPathogenic
Select item 30800	NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	LOC129930446, MMACHC (W203* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 21357	NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val)	STIL (A1146V +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 21354	NM_001048166.1(STIL):c.257C>T (p.Ala86Val)	STIL (A86V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 8954	NM_000098.3(CPT2):c.149C>A (p.Pro50His)	CPT2, LOC129930561 (P50H)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +13 more	GPathogenic
Select item 8953	NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	CPT2 (S113L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +7 more	GPathogenic/Likely pathogenic
Select item 8968	NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	CPT2 (Y120C)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more	GPathogenic/Likely pathogenic
Select item 130889	NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)	CPT2 (R151Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic/Likely pathogenic
Select item 130885	NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)	CPT2	Indel (inframe_indel)	CPT2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 8964	NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)	CPT2 (P227L)	Single nucleotide variant (missense variant)	CPT2-related condition +6 more	GPathogenic/Likely pathogenic
Select item 92428	NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)	CPT2 (F352C)	Single nucleotide variant (missense variant)	CPT2-related condition +7 more	GBenign/Likely benign
Select item 92429	NM_000098.3(CPT2):c.1102G>A (p.Val368Ile)	CPT2 (V368I)	Single nucleotide variant (missense variant)	CPT2-related condition +5 more	GBenign
Select item 92430	NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)	CPT2 (K414fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic
Select item 8960	NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu)	CPT2 (F448L)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GConflicting classifications of pathogenicity; other
Select item 8959	NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)	CPT2 (R503C)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic/Likely pathogenic
Select item 130890	NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp)	CPT2 (G549D +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GConflicting classifications of pathogenicity
Select item 8952	NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)	CPT2 (R631C +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic
Select item 92433	NM_000098.3(CPT2):c.1939A>G (p.Met647Val)	CPT2 (M647V +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GBenign
Select item 201127	NM_174936.4(PCSK9):c.644G>A (p.Arg215His)	PCSK9 (R151H +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 201129	NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)	PCSK9 (R496W +6 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 1095	NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	AGL (Q6*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 195097	NM_000642.3(AGL):c.18_19del (p.Gln6fs)	AGL (Q6fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1106	NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)	AGL (R408* +3 more)	Single nucleotide variant (nonsense)	Glycogen storage disease IIIa +2 more	GPathogenic
Select item 1096	NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)	AGL (W680* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 21215	NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)	AGL (R864* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 21216	NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	AGL (R1228* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1103	NM_000642.3(AGL):c.3965del (p.Val1322fs)	AGL (V1306fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1099	NM_000642.3(AGL):c.4260-12A>G	AGL	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1098	NM_000642.3(AGL):c.4456del (p.Ser1486fs)	AGL (S1470fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 13903	NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)	NRAS (G60E)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic
Select item 222971	NM_002524.5(NRAS):c.71T>A (p.Ile24Asn)	NRAS (I24N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 41043	NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)	CASQ2 (R33*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GPathogenic/Likely pathogenic

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