Y462C[VARNAME] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1055008	NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys)	PLEKHG5 (Y462C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +1 more	GUncertain significance
Select item 1478913	NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)	MFN2 (Y462C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +4 more	GUncertain significance
Select item 1312910	NM_013386.5(SLC25A24):c.1385A>G (p.Tyr462Cys)	SLC25A24 (Y443C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3163952	NM_024330.4(SLC27A3):c.1385A>G (p.Tyr462Cys)	SLC27A3 (Y462C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592146	NM_018417.6(ADCY10):c.1385A>G (p.Tyr462Cys)	ADCY10, DCAF6 (Y370C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 210347	NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys)	ASPM (Y462C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1403455	NM_001034116.2(EIF2B4):c.1322A>G (p.Tyr441Cys)	EIF2B4, GTF3C2-AS2 (Y462C +7 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2328994	NM_003628.6(PKP4):c.1394A>G (p.Tyr465Cys)	PKP4 (Y464C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1021	NM_001077525.3(MTMR14):c.1385A>G (p.Tyr462Cys)	MTMR14 (Y462C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3151508	NM_001100427.2(RAP1GDS1):c.1658A>G (p.Tyr553Cys)	RAP1GDS1 (Y504C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137326	NM_032587.4(CARD6):c.1385A>G (p.Tyr462Cys)	CARD6 (Y462C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 630746	NM_000038.6(APC):c.1865A>G (p.Tyr622Cys)	APC (Y622C +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2158438	NM_000414.4(HSD17B4):c.1805A>G (p.Tyr602Cys)	HSD17B4 (Y462C +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome +1 more	GUncertain significance
Select item 231504	NM_005732.4(RAD50):c.1385A>G (p.Tyr462Cys)	RAD50 (Y462C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2082122	NM_012431.3(SEMA3E):c.1565A>G (p.Tyr522Cys)	SEMA3E (Y522C +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1789392	NM_021930.6(RINT1):c.2309A>G (p.Tyr770Cys)	EFCAB10, RINT1 (Y692C +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3168092	NM_172312.2(SPAG8):c.1385A>G (p.Tyr462Cys)	NPR2, SPAG8 (Y462C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 24942	NM_020975.6(RET):c.2417A>G (p.Tyr806Cys)	RET (Y806C +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2359462	NM_001077665.3(AGAP6):c.1988A>G (p.Tyr663Cys)	AGAP6, TIMM23B-AGAP6 (Y462C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 966460	NM_001384140.1(PCDH15):c.1385A>G (p.Tyr462Cys)	PCDH15 (Y425C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2589672	NM_033034.3(TRIM5):c.1385A>G (p.Tyr462Cys)	TRIM5 (Y462C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 305205	NM_000543.5(SMPD1):c.1517A>G (p.Tyr506Cys)	SMPD1 (Y506C +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A	GUncertain significance
Select item 2119342	NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys)	DHCR7 (Y462C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 2412394	NM_001714.4(BICD1):c.1385A>G (p.Tyr462Cys)	BICD1 (Y462C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126007	NM_001329214.4(MIA2):c.1385A>G (p.Tyr462Cys)	MIA2 (Y462C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1172786	NM_002582.4(PARN):c.1385A>G (p.Tyr462Cys)	PARN (Y401C +2 more)	Single nucleotide variant (missense variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 +1 more	GUncertain significance
Select item 3143263	NM_001143685.2(CES5A):c.1298A>G (p.Tyr433Cys)	CES5A (Y433C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 141014	NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)	CDH1 (Y523C +2 more)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 2322976	NM_000135.4(FANCA):c.1385A>G (p.Tyr462Cys)	FANCA (Y462C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 232629	NM_007294.4(BRCA1):c.1394A>G (p.Tyr465Cys)	BRCA1 (Y465C +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2036163	NM_015443.4(KANSL1):c.2843A>G (p.Tyr948Cys)	KANSL1 (Y462C +9 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2552759	NM_001384355.1(RAD21L1):c.1385A>G (p.Tyr462Cys)	RAD21L1 (Y304C +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1325043	NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)	SEC23B (Y444C +1 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +2 more	GConflicting classifications of pathogenicity
Select item 2598454	NM_001794.5(CDH4):c.1385A>G (p.Tyr462Cys)	CDH4 (Y462C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 466451	NM_001242896.3(DEPDC5):c.1385A>G (p.Tyr462Cys)	DEPDC5 (Y462C +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1 +2 more	GUncertain significance
Select item 985826	NM_021120.4(DLG3):c.2300A>G (p.Tyr767Cys)	DLG3 (Y316C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 10860	NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys)	OCRL (Y479C +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2	GPathogenic

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Items: 37